Prof. Dr. Serdar CEYLANER Ve Doç. Dr. Gülay CEYLANER’in Yazarları Arasında Olduğu
Makaleler;
1- Postmortem evaluation of 220 prenatally diagnosed fetuses with neural tube defects: detection of associated anomalies in a Turkish population.
Ceylaner S, Ceylaner G, Günyeli I, Ekici E, Tuğ M, Taner D, Ekerbicer H, Mollamahmutoğlu L, Danişman N.Prenat Diagn. 2006 Feb;26(2):147-53. doi: 10.1002/pd.1378.PMID: 16470735
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/16470735/
2- Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen storage-associated mitochondriopathy.
Wong HH, Seet SH, Maier M, Gurel A, Traspas RM, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, Teoh TS, Sng D, Rensvold J, Unal S, Shishkova E, Cepni E, Nathan FM, Sirota FL, Liang C, Yarali N, Simsek-Kiper PO, Mitani T, Ceylaner S, Arman-Bilir O, Mbarek H, Gumruk F, Efthymiou S, Uğurlu Çi Men D, Georgiadou D, Sotiropoulou K, Houlden H, Paul F, Pehlivan D, Lainé C, Chai G, Ali NA, Choo SC, Keng SS, Boisson B, Yılmaz E, Xue S, Coon JJ, Ly TTN, Gilani N, Hasbini D, Kayserili H, Zaki M, Isfort RJ, Ordonez N, Tripolszki K, Bauer P, Rezaei N, Seyedpour S, Khotaei GT, Bascom CC, Maroofian R, Chaabouni M, Alsubhi A, Eyaid W, Işıkay S, Gleeson JG, Lupski JR, Casanova JL, Pagliarini DJ, Akarsu NA, Maurer-Stroh S, Cetinkaya A, Bertoli-Avella A, Mathuru AS, Ho L, Bard FA, Reversade B.Am J Hum Genet. 2021 May 21:S0002-9297(21)00187-7. doi: 10.1016/j.ajhg.2021.05.003. Online ahead of print.PMID: 34038740
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/34038740/
3- Central Precocious Puberty in an Infant with Sotos Syndrome and Response to Treatment.
Kontbay T, Şıklar Z, Ceylaner S, Berberoğlu M.J Clin Res Pediatr Endocrinol. 2021 May 20. doi: 10.4274/jcrpe.galenos.2021.2020.0273. Online ahead of print.PMID: 34013836 Free article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/34013836/
4- Is Bioavailable Vitamin D Better Than Total Vitamin D to Evaluate Vitamin D Status in Obese Children?
Karacan Küçükali G, Gülbahar Ö, Özalkak Ş, Dağlı H, Ceylaner S, Aycan Z, Savaş Erdeve Ş.J Clin Res Pediatr Endocrinol. 2021 May 20. doi: 10.4274/jcrpe.galenos.2021.2020.0230. Online ahead of print.PMID: 34013709 Free article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/34013709/
5- Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Resembling Juvenile Idiopathic Arthritis: A Single-Center Experience from Southern Turkey.
Kisla Ekinci RM, Balci S, Dogan H, Ceylaner S, Varan C, Erdem S, Coban F, Bisgin A.Mol Syndromol. 2021 Apr;12(2):112-117. doi: 10.1159/000513111. Epub 2021 Feb 1.PMID: 34012381
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/34012381/
6- Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report.
P.Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2021 May 18. doi: 10.5507/bp.2021.027. Online ahead of print.PMID: 34012148
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/34012148/
7- Isolated congenital diaphragm hernia associated with homozygous SLIT3 gene variant in dizygous twins.
Kaya TB, Aydemir O, Ceylaner S, Ceylaner G, Tekin AN.Eur J Med Genet. 2021 Apr 30;64(7):104215. doi: 10.1016/j.ejmg.2021.104215. Online ahead of print.PMID: 33933663
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/33933663/
8- Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders.
Yılmaz BŞ, Ceylaner S, Mungan NÖ.Turk J Pediatr. 2021;63(2):314-318. doi: 10.24953/turkjped.2021.02.016.PMID: 33929122 Free article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/33929122/
9- Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.
Bayrak H, Yıldız Y, Olgaç A, Kasapkara ÇS, Küçükcongar A, Zenciroğlu A, Yüksel D, Ceylaner S, Kılıç M.Metab Brain Dis. 2021 Apr 1. doi: 10.1007/s11011-021-00718-3. Online ahead of print.PMID: 33791923
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/33791923/
10- Antioxidant Therapy in a Patient with Hyperprolinemia Type 1 Presenting with Mild Neuromotor Retardation and Speech Disturbance.
Ersoy M, Yılmaz S, Ceylaner S.Indian J Pediatr. 2021 Jun;88(6):601. doi: 10.1007/s12098-021-03744-2. Epub 2021 Mar 27.PMID: 33772430 No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/33772430/
11- More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.
Dhooge T, Van Damme T, Syx D, Mosquera LM, Nampoothiri S, Radhakrishnan A, Simsek-Kiper PO, Utine GE, Bonduelle M, Migeotte I, Essawi O, Ceylaner S, Al Kindy A, Tinkle B, Symoens S, Malfait F.Hum Mutat. 2021 Jun;42(6):711-730. doi: 10.1002/humu.24199. Epub 2021 Apr 6.PMID: 33739556
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/33739556/
12- A Novel mRNA Modification Mutation in a Patient With Ligneous Conjunctivitis Coexisting With Heterozygous Familial Mediterranean Fever Mutation.
Koseoglu ND, Ceylaner S, Yildirim N.Cornea. 2021 Jun 1;40(6):764-768. doi: 10.1097/ICO.0000000000002702.PMID: 33734159
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/33734159/
13- Hypomyelination and Congenital Cataract: Three Siblings Presentation.
Karalok ZS, Gurkasb E, Aydinc K, Ceylaner S.J Pediatr Neurosci. 2020 Jul-Sep;15(3):270-273. doi: 10.4103/jpn.JPN_161_18. Epub 2020 Nov 6.PMID: 33531944
Makaleyi okumak için;
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7847105/
14- Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP syndrome) caused by a novel mutation in ADPRHL2 (AHR3).
Durmus H, Mertoğlu E, Sticht H, Ceylaner S, Kulaksızoğlu IB, Hashemolhosseini S, Uçar EÖ, Parman Y.Neurol Sci. 2021 Feb 2. doi: 10.1007/s10072-021-05100-w. Online ahead of print.PMID: 33528672
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/33528672/
15- A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencing.
Cakmak Celik F, Ozlu MM, Ceylaner S.Clin Neurol Neurosurg. 2021 Mar;202:106506. doi: 10.1016/j.clineuro.2021.106506. Epub 2021 Jan 19.PMID: 33497949 No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/33497949/
16- Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia.
Şeker Yilmaz B, KÖr D, Bulut FD, Kilavuz S, Ceylaner S, Önenlİ Mungan HN.Turk J Med Sci. 2021 Jan 17. doi: 10.3906/sag-2001-72. Online ahead of print.PMID: 33453710 Free article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/33453710/
17- Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family.
Gun Bilgic D, Gerik Celebi HB, Aydin Gumus A, Bilgic A, Yazici H, Ceylaner S, Yilmaz C, Polat M, Akbal Sahin M, Dereli F, Cam FS.J Clin Neurosci. 2020 Dec;82(Pt B):214-218. doi: 10.1016/j.jocn.2020.11.007. Epub 2020 Nov 24.PMID: 33246910
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/33246910/
18- Pan-european landscape of research into neurodevelopmental copy number variants: A survey by the MINDDS consortium.
Chawner SJRA, Mihaljevic M, Morrison S, Eser HY, Maillard AM, Nowakowska B; MINDDS Consortium, van den Bree MBM, Swillen A.Eur J Med Genet. 2020 Dec;63(12):104093. doi: 10.1016/j.ejmg.2020.104093. Epub 2020 Nov 5.PMID: 33160096 Free article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/33160096/
19- LRBA deficiency: a rare cause of type 1 diabetes, colitis, and severe immunodeficiency.
Kardelen AD, Kara M, Güller D, Ozturan EK, Abalı ZY, Ceylaner S, Kıykım A, Cantez S, Torun SH, Poyrazoglu S, Bas F, Darendelıler F.Hormones (Athens). 2021 Jun;20(2):389-394. doi: 10.1007/s42000-020-00257-z. Epub 2020 Nov 5.PMID: 33155142 Review.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/33155142/
20- Cytochrome P450 oxidoreductase deficiency caused by a novel mutation in the POR gene in two siblings: case report and literature review.
Unal E, Demiral M, Yıldırım R, Taş FF, Ceylaner S, Özbek MN.Hormones (Athens). 2021 Jun;20(2):293-298. doi: 10.1007/s42000-020-00249-z. Epub 2020 Oct 29.PMID: 33123976 Review.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/33123976/
21- Rare slow channel congenital myasthenic syndromes without repetitive compound muscle action potential and dramatic response to low dose fluoxetine.
Durmus H, Sticht H, Ceylaner S, Hashemolhosseini S, Deymeer F.Acta Neurol Belg. 2020 Oct 8. doi: 10.1007/s13760-020-01505-0. Online ahead of print.PMID: 33030681
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/33030681/
22- Aceruloplasminemia Presenting with Asymmetric Chorea Due to a Novel Frameshift Mutation.
Aydemir ST, Bulut O, Ceylaner S, Akbostancı MC.Mov Disord Clin Pract. 2020 Sep 29;7(Suppl 3):S67-S70. doi: 10.1002/mdc3.13062. eCollection 2020 Sep.PMID: 33015227 No abstract available.
Makaleyi okumak için;
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7525192/
23- Clinical Features and Outcomes of 23 Patients with Wiskott-Aldrich Syndrome: A Single-Center Experience.
Haskoloğlu Ş, Öztürk A, Öztürk G, Kostel Bal S, İslamoğlu C, Baskın K, Ceylaner S, Tufan Satıroğlu L, Doğu F, İkincioğulları A.Turk J Haematol. 2020 Nov 19;37(4):271-281. doi: 10.4274/tjh.galenos.2020.2020.0334. Epub 2020 Aug 19.PMID: 32812413 Free PMC article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/32812413/
24- Mild lamellar ichthyosis with a truncated homozygous TGM1 mutation in a pediatric patient from Turkey.
İmren IG, Tanacan E, Ceylaner S, Sumer G, Eksioglu M.Dermatol Ther. 2020 Nov;33(6):e14152. doi: 10.1111/dth.14152. Epub 2020 Sep 6.PMID: 32767474 No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/32767474/
25- Two Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome.
Dagdeviren Cakir A, Saidov S, Turan H, Ceylaner S, Özer Y, Kutlu T, Ercan O, Evliyaoglu O.Mol Syndromol. 2020 Jun;11(2):90-96. doi: 10.1159/000506722. Epub 2020 Mar 18.PMID: 32655340 Free article.
Makaleyi okumak için;
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7325121/
26- Genetic Management Algorithm in High-Risk Fabry Disease Cases; Especially in Female Indexes with Mutations.
Sezer O, Ceylaner S.Endocr Metab Immune Disord Drug Targets. 2021;21(2):324-337. doi: 10.2174/1871530320666200708135826.PMID: 32640971
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/32640971/
27- Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.
Ghosh S, Köstel Bal S, Edwards ESJ, Pillay B, Jiménez Heredia R, Erol Cipe F, Rao G, Salzer E, Zoghi S, Abolhassani H, Momen T, Gostick E, Price DA, Zhang Y, Oler AJ, Gonzaga-Jauregui C, Erman B, Metin A, Ilhan I, Haskologlu S, Islamoglu C, Baskin K, Ceylaner S, Yilmaz E, Unal E, Karakukcu M, Berghuis D, Cole T, Gupta AK, Hauck F, Kogler H, Hoepelman AIM, Baris S, Karakoc-Aydiner E, Ozen A, Kager L, Holzinger D, Paulussen M, Krüger R, Meisel R, Oommen PT, Morris E, Neven B, Worth A, van Montfrans J, Fraaij PLA, Choo S, Dogu F, Davies EG, Burns S, Dückers G, Becker RP, von Bernuth H, Latour S, Faraci M, Gattorno M, Su HC, Pan-Hammarström Q, Hammarström L, Lenardo MJ, Ma CS, Niehues T, Aghamohammadi A, Rezaei N, Ikinciogullari A, Tangye SG, Lankester AC, Boztug K.Blood. 2020 Dec 3;136(23):2638-2655. doi: 10.1182/blood.2020006738.PMID: 32603431 Clinical Trial.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/32603431/
28- Clinical and genetic characteristics of patients with corticosterone methyloxidase deficiency type 2: Novel mutations in CYP11B2.
Turan H, Dağdeviren Çakır A, Özer Y, Tarçın G, Özcabi B, Ceylaner S, Ercan O, Evliyaoğlu SO.J Clin Res Pediatr Endocrinol. 2020 Jun 16. doi: 10.4274/jcrpe.galenos.2020.2019.0216. Online ahead of print.PMID: 32539318 Free article.
Makaleyi okumak için;
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8186340/
29- A Rare Cause of Adrenal Insufficiency - Isolated ACTH Deficiency Due to TBX19 Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature.
Kardelen Al AD, Poyrazoğlu Ş, Aslanger A, Yeşil G, Ceylaner S, Baş F, Darendeliler F.Horm Res Paediatr. 2019;92(6):395-403. doi: 10.1159/000506740. Epub 2020 Apr 28.PMID: 32344415 Free article. Review.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/32344415/
30- Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel Mutation.
Yücel H, Genç Sel Ç, Kasapkara ÇS, Karacan Küçükali G, Savas Erdeve S, Öztoprak Ü, Ceylaner S, Şenel S, Akçaboy M.J Clin Res Pediatr Endocrinol. 2021 Feb 26;13(1):114-118. doi: 10.4274/jcrpe.galenos.2020.2020.0004. Epub 2020 Apr 17.PMID: 32302086 Free PMC article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/32302086/
31- Importance of DNA Sequencing for Abnormal Hemoglobins Detected by HPLC Screening.
Canatan D, Çim A, Delibaş S, Altunsoy E, Ceylaner S.Turk J Haematol. 2020 May 6;37(2):134-135. doi: 10.4274/tjh.galenos.2020.2019.0470. Epub 2020 Mar 4.PMID: 32126744 Free PMC article. No abstract available.
Makaleyi okumak için;
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7236411/
32- Clinical, immunological features and follow up of 20 patients with dedicator of cytokinesis 8 (DOCK8) deficiency.
Haskologlu S, Kostel Bal S, Islamoglu C, Aytekin C, Guner S, Sevinc S, Keles S, Kendirli T, Ceylaner S, Dogu F, Ikinciogullari A.Pediatr Allergy Immunol. 2020 Jul;31(5):515-527. doi: 10.1111/pai.13236. Epub 2020 Mar 11.PMID: 32108967 Free PMC article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/32108967/
33- Ataxia, tremor, intellectual disability: a case of STXBP1 encephalopathy with a new mutation.
Değerliyurt A, Kesen GG, Ceylaner S.Turk J Pediatr. 2019;61(5):757-759. doi: 10.24953/turkjped.2019.05.015.PMID: 32105008 Free article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/32105008/
34- A novel mutation which causes a frameshift in the PHOX2B gene causes Haddad syndrome.
Guzoglu N, Aslan MK, Gunay YD, Atasoy P, Ceylaner S, Aliefendioglu D.Clin Dysmorphol. 2020 Jul;29(3):152-154. doi: 10.1097/MCD.0000000000000317.PMID: 32073407 No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/32073407/
35- Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe.
Yıldız Y, Arslan M, Çelik G, Kasapkara ÇS, Ceylaner S, Dursun A, Sivri HS, Coşkun T, Tokatlı A.Am J Med Genet A. 2020 Apr;182(4):705-712. doi: 10.1002/ajmg.a.61488. Epub 2020 Jan 25.PMID: 31981409
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/31981409/
36- Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis.
Değerliyurt A, Gündüz M, Ceylaner S, Ünal Ö, Ünal S.Turk J Pediatr. 2019;61(2):261-266. doi: 10.24953/turkjped.2019.02.016.PMID: 31951338 Free article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/31951338/
37- Cardiac Tamponade in Gorham-Stout Syndrome Associated with GATA2 Mutation.
Oguz MM, Oguz B, Dogan V, Aydin B, Eyuboglu TS, Yesil S, Ceylaner S, Senel S.Indian J Pediatr. 2020 Mar;87(3):239-240. doi: 10.1007/s12098-019-03174-1. Epub 2020 Jan 14.PMID: 31933136 No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/31933136/
38- Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations.
Kör D, Şeker-Yılmaz B, Bulut FD, Kılavuz S, Öktem M, Ceylaner S, Yıldızdaş D, Önenli-Mungan N.Turk J Pediatr. 2019;61(3):330-336. doi: 10.24953/turkjped.2019.03.003.PMID: 31916709 Free article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/31916709/
39- A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 α-hydroxylase deficiency due to a novel variant in CYP17A1 gene.
Unal E, Yıldırım R, Taş FF, Tekin S, Ceylaner S, Haspolat YK.Gynecol Endocrinol. 2020 Aug;36(8):739-742. doi: 10.1080/09513590.2019.1707798. Epub 2019 Dec 30.PMID: 31885295
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/31885295/
40- A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation.
Olgac A, Öztoprak Ü, Kasapkara ÇS, Kılıç M, Yüksel D, Derinkuyu EB, Taşçı Yıldız Y, Ceylaner S, Ezgu FS.J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):165-170. doi: 10.1515/jpem-2019-0245.PMID: 31821167
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/31821167/
41- Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13.
Köse MD, Kagnici M, Özdemir TR, Erdur CB, Erdemir G, Karakoyun M, Guzin Y, Ceylaner S, Genel F.J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):157-163. doi: 10.1515/jpem-2019-0377.PMID: 31809266
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/31809266/
42- A novel mutation in the GP1BA gene in Bernard-Soulier syndrome.
Özdemir ZC, Düzenli Kar Y, Ceylaner S, Bör Ö.Blood Coagul Fibrinolysis. 2020 Jan;31(1):83-86. doi: 10.1097/MBC.0000000000000868.PMID: 31789661
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/31789661/
43- Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 Gene.
Demiral M, Demirbilek H, Unal E, Durmaz CD, Ceylaner S, Özbek MN.J Clin Res Pediatr Endocrinol. 2020 Sep 2;12(3):319-328. doi: 10.4274/jcrpe.galenos.2019.2019.0142. Epub 2019 Nov 29.PMID: 31782289 Free PMC article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/31782289/
44- Congenital myasthenic syndrome in Turkey: clinical and genetic features in the long-term follow-up of patients.
Gül Mert G, Özcan N, Hergüner Ö, Altunbaşak Ş, Incecik F, Bişgin A, Ceylaner S.Acta Neurol Belg. 2021 Apr;121(2):529-534. doi: 10.1007/s13760-019-01246-9. Epub 2019 Nov 26.PMID: 31773638
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/31773638/
45- Early-onset progressive encephalopathy associated with NAXE gene variants: a case report of a Turkish child.
Incecık F, Ceylaner S.Acta Neurol Belg. 2020 Jun;120(3):733-735. doi: 10.1007/s13760-019-01242-z. Epub 2019 Nov 22.PMID: 31758406 No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/31758406/
46- Hypokalemia and hearing loss in a 3-year-old boy: Answers.
Aksoy OY, Cayci FS, Ceylaner S, Tokgoz SA, Kaplan G, Bayrakci US.Pediatr Nephrol. 2020 Apr;35(4):617-618. doi: 10.1007/s00467-019-04383-8. Epub 2019 Oct 30.PMID: 31667619 No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/31667618/
47- Hypokalemia and hearing loss in a 3-year-old boy: Questions.
Aksoy OY, Cayci FS, Ceylaner S, Tokgoz SA, Kaplan G, Bayrakci US.Pediatr Nephrol. 2020Apr;35(4):615. doi: 10.1007/s00467-019-04379-4. Epub 2019 Oct 30.PMID: 31667618
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/31667618/
48- The Prevalence of Fabry Disease Among Turkish Patients with Non-Obstructive Hypertrophic Cardiomyopathy: Insights from a Screening Study.
Barman HA, İkitimur B, Kılıçkıran Avcı B, Durmaz E, Atıcı A, Aslan S, Ceylaner S, Karpuz H.Balkan Med J. 2019 Oct 28;36(6):354-358. doi: 10.4274/balkanmedj.galenos.2019.2019.5.125. Epub 2019 Aug 26.PMID: 31446751 Free PMC article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/31446751/
49- Prenatal Diagnosis of Osteogenesis Imperfecta Type III.
Canda MT, Ceylaner S, Doganay Caglayan L, Demir AB, Demir N.J Obstet Gynaecol India. 2019 Aug;69(4):374-376. doi: 10.1007/s13224-019-01230-6. Epub 2019 Apr 22.PMID: 31391747 Free PMC article. No abstract available.
Makaleyi okumak için;
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661042/
50- Importance of pedigree in patients with familial epilepsy and intellectual disability.
Çaksen H, Aktar F, Yıldırım G, Ceylaner S.Sudan J Paediatr. 2019;19(1):52-56. doi: 10.24911/SJP.106-1536222362.PMID: 31384089 Free PMC article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/31384089/
51- Analysis of TP53 gene in uterine myomas: No mutations but P72R polymorphism is associated with myoma development.
Altinkaya SO, Avcioglu SN, Sezer SD, Ceylaner S.J Obstet Gynaecol Res. 2019 Oct;45(10):2088-2094. doi: 10.1111/jog.14071. Epub 2019 Jul 29.PMID: 31357239
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/31357239/
52- A rare structural myopathy: Nemaline myopathy.
Yeşilbaş O, Şevketoğlu E, Kıhtır HS, Ersoy M, Petmezci MT, Akkuş CH, Şahin Ö, Ceylaner S.Turk Pediatri Ars. 2019 Mar 1;54(1):49-52. doi: 10.5152/TurkPediatriArs.2018.4402. eCollection 2019.PMID: 31217710 Free PMC article.
Makaleyi okumak için;
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6559969/
53- A rare case of prolidase deficiency with situs inversus totalis, identified by a novel mutation in the PEPD gene.
Kiratli Nalbant E, Karaosmanoglu N, Kutlu O, Ceylaner S, Eksioglu HM.JAAD Case Rep. 2019 May 7;5(5):436-438. doi: 10.1016/j.jdcr.2019.03.008. eCollection 2019 May.PMID: 31192996 Free PMC article. No abstract available.
Makaleyi okumak için;
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6510937/
54- Mild hypotonia and recurrent seizures in an 8-month-old boy: Answers.
Özlü SG, Kasapkara CS, Ceylaner S, Erat Nergız M, Alan B, Yılmaz S, Çıtak Kurt AN.Pediatr Nephrol. 2019 Oct;34(10):1729-1731. doi: 10.1007/s00467-019-04236-4. Epub 2019 Mar 22.PMID: 30903374 No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/30903374/
55- Mild hypotonia and recurrent seizures in an 8-month-old boy: Questions.
Özlü SG, Kasapkara CS, Ceylaner S, Nergız ME, Alan B, Yılmaz S, Kurt ANÇ.Pediatr Nephrol. 2019 Oct;34(10):1727-1728. doi: 10.1007/s00467-019-04231-9. Epub 2019 Mar 22.PMID: 30903373
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/30903374/
56- Clinical, Histochemical, and Molecular Study of Three Turkish Siblings Diagnosed with H Syndrome, and Literature Review.
Simsek E, Simsek T, Eren M, Yilmaz E, Arik D, Cilingir O, Ceylaner S, Harmancı K.Horm Res Paediatr. 2019;91(5):346-355. doi: 10.1159/000495190. Epub 2019 Jan 9.PMID: 30625464 Review.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/30625464/
57- Novel mutation in MASP1 gene in a new family with 3MC syndrome.
Basdemirci M, Sen A, Ceylaner S.Clin Dysmorphol. 2019 Apr;28(2):91-93. doi: 10.1097/MCD.0000000000000256.PMID: 30601195 No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/30601195/
58- Association of vitamin D receptor gene polymorphisms with osteosarcoma risk and prognosis.
Kurucu N, Şahin G, Sarı N, Ceylaner S, İlhan İE.J Bone Oncol. 2018 Nov 30;14:100208. doi: 10.1016/j.jbo.2018.100208. eCollection 2019 Feb.PMID: 30568875 Free PMC article.
Makaleyi okumak için;
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289937/
59- A Very Rare Etiology of Hypotonia and Seizures: Congenital Glutamine Synthetase Deficiency.
Ünal Ö, Ceylaner S, Akın R.Neuropediatrics. 2019 Feb;50(1):51-53. doi: 10.1055/s-0038-1675637. Epub 2018 Nov 15.PMID: 30440076
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/30440076/
60- A rare cause of fever of unknown origin: hypohidrotic ectodermal dysplasia with a splice site mutation.
Oguz MM, Akcaboy M, Gurkan A, Altinel Acoglu E, Zorlu P, Ceylaner S, Senel S.Minerva Pediatr. 2018 Oct;70(5):493-495. doi: 10.23736/S0026-4946.17.04817-4.PMID: 30302989 No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/30302989/
61- Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I.
Karalok ZS, Megaro A, Cenciarini M, Guven A, Hasan SM, Taskin BD, Imbrici P, Ceylaner S, Pessia M, D'Adamo MC.Front Neurol. 2018 Jul 25;9:587. doi: 10.3389/fneur.2018.00587. eCollection 2018.PMID: 30140249 Free PMC article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/30140249/
62- A Case of Shwachman-Diamond Syndrome who Presented with Hypotonia.
Barış Z, Özçay F, Olcay L, Ceylaner S, Sezer T.J Pediatr Genet. 2018 Sep;7(3):117-121. doi: 10.1055/s-0038-1636997. Epub 2018 Mar 7.PMID: 30105119 Free PMC article.
Makaleyi okumak için;
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6087479/
63- A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation.
Dursun F, Ceylaner S.J Clin Res Pediatr Endocrinol. 2019 May 28;11(2):196-201. doi: 10.4274/jcrpe.galenos.2018.2018.0140. Epub 2018 Aug 3.PMID: 30074481 Free PMC article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/30074481/
64- The Second Case of Saposin A Deficiency and Altered Autophagy.
Kose M, Demir SA, Akinci G, Eraslan C, Yilmaz U, Ceylaner S, Yildirim ES, Seyrantepe V.JIMD Rep. 2019;44:43-54. doi: 10.1007/8904_2018_114. Epub 2018 Jul 12.PMID: 29995202 Free PMC article.
Makaleyi okumak için;
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323030/
65- Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia.
Yucel H, Kasapkara ÇS, Akcaboy M, Aksoy E, Sahin GE, Derinkuyu BE, Senel S, Ceylaner S.Metab Brain Dis. 2018 Oct;33(5):1775-1778. doi: 10.1007/s11011-018-0281-8. Epub 2018 Jun 30.PMID: 29961243
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/29961243/
66- A rare mutation in the EPG5 gene causes Vici syndrome.
Demiral E, Sen A, Esener Z, Ceylaner S, Tekedereli I.Clin Dysmorphol. 2018 Oct;27(4):145-147. doi: 10.1097/MCD.0000000000000233.PMID: 29944490 No abstract available.
Makaleyi okumak için;
67- Nonketotic hyperglycinemia: Clinical range and outcome of a rare neurometabolic disease in a single-center.
Genç Sel Ç, Kılıç M, Yüksel D, Aksoy A, Kasapkara ÇS, Ceylaner S, Oğuz KK.Brain Dev. 2018 Nov;40(10):865-875. doi: 10.1016/j.braindev.2018.06.007. Epub 2018 Jun 19.PMID: 29929752
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/29929752/
68- Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey.
Bulut FD, Kör D, Şeker-Yılmaz B, Hergüner Ö, Ceylaner S, Özkınay F, Kılavuz S, Önenli-Mungan N.Metab Brain Dis. 2018 Aug;33(4):1223-1227. doi: 10.1007/s11011-018-0236-0. Epub 2018 Apr 14.PMID: 29656334
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/29656334/
69- MaFOS-GDM trial: Maternal fish oil supplementation in women with gestational diabetes and cord blood DNA methylation at insulin like growth factor-1 (IGF-1) gene.
Dilli D, Doğan NN, İpek MŞ, Çavuş Y, Ceylaner S, Doğan H, Dursun A, Küçüközkan T, Zenciroğlu A.Clin Nutr ESPEN. 2018 Feb;23:73-78. doi: 10.1016/j.clnesp.2017.12.006. Epub 2017 Dec 30.PMID: 29460817 Clinical Trial.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/29460817/
70- An infant with glutaric aciduria type IIc diagnosed with a novel mutation.
Işıkay S, Yaman A, Ceylaner S.Turk J Pediatr. 2017;59(3):315-317. doi: 10.24953/turkjped.2017.03.013.PMID: 29376578 Free article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/29376578/
71- p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency.
Şeker-Yılmaz B, Kör D, Tümgör G, Ceylaner S, Önenli-Mungan N.Turk J Pediatr. 2017;59(3):311-314. doi: 10.24953/turkjped.2017.03.012.PMID: 29376577 Free article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/29376577/
72- Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey.
Seker Yilmaz B, Mungan NO, Kor D, Bulut D, Seydaoglu G, Öktem M, Ceylaner S.J Pediatr Endocrinol Metab. 2018 Mar 28;31(3):339-343. doi: 10.1515/jpem-2017-0406.PMID: 29353266
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/29353266/
73- A novel mutation in the desmoplakin gene in two female siblings with a rare form of dilated cardiomyopathy: Carvajal syndrome.
Ramoğlu MG, Uçar T, Ceylaner S, Atalay S, Tutar E.Anatol J Cardiol. 2017 Dec;18(6):435-436. doi: 10.14744/AnatolJCardiol.2017.7867.PMID: 29256881 Free PMC article. No abstract available.
Makaleyi okumak için;
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282890/
74- A case of Riley Ruvalcaba syndrome with a novel PTEN mutation accompanied by diffuse testicular microlithiasis and precocious puberty.
Ozsu E, Sen A, Ceylaner S.J Pediatr Endocrinol Metab. 2018 Jan 26;31(1):95-99. doi: 10.1515/jpem-2017-0250.PMID: 29194042
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/29194042/
75- Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes.
Şıklar Z, de Franco E, Johnson MB, Flanagan SE, Ellard S, Ceylaner S, Boztuğ K, Doğu F, İkincioğulları A, Kuloğlu Z, Kansu A, Berberoğlu M.Exp Clin Endocrinol Diabetes. 2018 Nov;126(10):612-618. doi: 10.1055/s-0043-120571. Epub 2017 Nov 28.PMID: 29183106
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/29183106/
76- Early-onset severe obesity due to complete deletion of the leptin gene in a boy.
Ozsu E, Ceylaner S, Onay H.J Pediatr Endocrinol Metab. 2017 Oct 26;30(11):1227-1230. doi: 10.1515/jpem-2017-0063.PMID: 29040067
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/29040067/
77- A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed case.
Ersoy M, Akyol MB, Ceylaner S, Çakır Biçer N.Clin Case Rep. 2017 Jun 28;5(8):1284-1288. doi: 10.1002/ccr3.1013. eCollection 2017 Aug.PMID: 28781843 Free PMC article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/28781843/
78- Lethal neonatal rigidity and multifocal seizure syndrome with a new mutation in BRAT1.
Celik Y, Okuyaz C, Arslankoylu AE, Ceylaner S.Epilepsy Behav Case Rep. 2017 May 25;8:31-32. doi: 10.1016/j.ebcr.2017.05.003. eCollection 2017.PMID: 28752061 Free PMC article.
Makaleyi okumak için;
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5516089/
79- Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation.
Muratoğlu Şahin N, Bilici ME, Kurnaz E, Pala Akdoğan M, Ceylaner S, Aycan Z.J Pediatr Endocrinol Metab. 2017 Aug 28;30(8):889-892. doi: 10.1515/jpem-2016-0315.PMID: 28742517
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/28742517/
80- A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans.
Tuhan H, Ceylaner S, Nalbantoğlu Ö, Acar S, Abacı A, Böber E, Demir K.J Clin Res Pediatr Endocrinol. 2017 Dec 15;9(4):371-374. doi: 10.4274/jcrpe.4577. Epub 2017 Jun 30.PMID: 28663160 Free PMC article.
Makaleyi okumak için;
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785646/
81- Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose.
Kör D, Yılmaz BŞ, Bulut FD, Ceylaner S, Mungan NÖ.J Pediatr Endocrinol Metab. 2017 Jul 26;30(7):713-718. doi: 10.1515/jpem-2016-0461.PMID: 28593914 Clinical Trial.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/28593914/
82- The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency.
Kasapkara ÇS, Aycan Z, Açoğlu E, Senel S, Oguz MM, Ceylaner S.J Pediatr Endocrinol Metab. 2017 Apr 1;30(4):459-462. doi: 10.1515/jpem-2016-0317.PMID: 28245189
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/28245189/
83- Unexplained cyanosis caused by hepatopulmonary syndrome in a girl with APECED syndrome.
Celmeli F, Kocabas A, Isik IA, Parlak M, Kisand K, Ceylaner S, Turkkahraman D.J Pediatr Endocrinol Metab. 2017 Mar 1;30(3):365-369. doi: 10.1515/jpem-2016-0276.PMID: 28222032
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/28222032/
84- Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency.
Kılıç M, Şenel S, Karaer K, Ceylaner S.Turk J Pediatr. 2017;59(6):708-710. doi: 10.24953/turkjped.2017.06.016.PMID: 30035407 Free article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/30035407/
85- Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis.
Kılıç-Yıldırım G, Durmuş-Aydoğdu S, Ceylaner S, Sass JO.Turk J Pediatr. 2017;59(4):471-474. doi: 10.24953/turkjped.2017.04.016.PMID: 29624230 Free article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/29624230/
86- Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign.
Çamtosun E, Şıklar Z, Ceylaner S, Kocaay P, Berberoğlu M.J Clin Res Pediatr Endocrinol. 2017 Jun 1;9(2):163-167. doi: 10.4274/jcrpe.3839. Epub 2016 Dec 23.PMID: 28008861 Free PMC article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/28008861/
87- Pyruvate dehydrogenase-E1α deficiency presenting as recurrent acute proximal muscle weakness of upper and lower extremities in an 8-year-old boy.
Kara B, Genç HM, Uyur-Yalçın E, Sakarya-Güneş A, Topçu U, Mülayim S, Ceylaner S.Neuromuscul Disord. 2017 Jan;27(1):94-97. doi: 10.1016/j.nmd.2016.11.001. Epub 2016 Nov 9.PMID: 27894792
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/27894792/
88- Mitochondrial membrane protein-associated neurodegeneration in a Turkish patient.
Incecik F, Hergüner OM, Besen S, Ceylaner S.J Pediatr Neurosci. 2016 Jul-Sep;11(3):288-289. doi: 10.4103/1817-1745.193381.PMID: 27857812 Free PMC article. No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/27857812/
89- Two Frameshift Mutations in MKRN3 in Turkish Patients with Familial Central Precocious Puberty.
Simsek E, Demiral M, Ceylaner S, Kırel B.Horm Res Paediatr. 2017;87(6):405-411. doi: 10.1159/000450923. Epub 2016 Nov 1.PMID: 27798941 Clinical Trial.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/27798941/
90- Congenital Glucose-Galactose Malabsorption in a Turkish Newborn: A Novel Mutation of Na+/Glucose Cotransporter Gene.
Atay FY, Derme T, Uras N, Ceylaner G, Ceylaner S, Sari FN, Oguz SS.Dig Dis Sci. 2017 Jan;62(1):280-281. doi: 10.1007/s10620-016-4348-2. Epub 2016 Oct 25.PMID: 27783308 No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/27783308/
91- A novel homozygous HOXB1 mutation in a Turkish family with hereditary congenital facial paresis.
Sahin Y, Güngör O, Ayaz A, Güngör G, Sahin B, Yaykasli K, Ceylaner S.Brain Dev. 2017 Feb;39(2):166-170. doi: 10.1016/j.braindev.2016.09.002. Epub 2016 Sep 15.PMID: 27640920
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/27640920/
92- Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia.
Ural UM, Ceylaner S.Taiwan J Obstet Gynecol. 2016 Aug;55(4):613-5. doi: 10.1016/j.tjog.2016.06.011.PMID: 27590395 Free article. No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/27590395/
93- A Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population.
Özcabı B, Tahmiscioğlu Bucak F, Jaferova S, Oruç Ç, Adrovic A, Ceylaner S, Ercan O, Evliyaoğlu O.J Clin Res Pediatr Endocrinol. 2016 Dec 1;8(4):484-489. doi: 10.4274/jcrpe.3128. Epub 2016 Jun 29.PMID: 27353739 Free PMC article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/27353739/
94- GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation.
Diniz G, Secil Y, Ceylaner S, Tokucoglu F, Türe S, Celebisoy M, İncesu TK, Akhan G.Case Rep Neurol Med. 2016;2016:8647645. doi: 10.1155/2016/8647645. Epub 2016 May 19.PMID: 27298745 Free PMC article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/27298745/
95- Excellent response to deep brain stimulation in a young girl with GNAO1-related progressive choreoathetosis.
Yilmaz S, Turhan T, Ceylaner S, Gökben S, Tekgul H, Serdaroglu G.Childs Nerv Syst. 2016 Sep;32(9):1567-8. doi: 10.1007/s00381-016-3139-6. Epub 2016 Jun 9.PMID: 27278281 Review. No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/27278281/
96- Cystinosis in Eastern Turkey.
Doğan M, Bulan K, Kaba S, Cesur Y, Ceylaner S, Ustyol L.J Pediatr Endocrinol Metab. 2016 Aug 1;29(8):965-9. doi: 10.1515/jpem-2014-0477.PMID: 27269891
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/27269891/
97- Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature.
Gül-Mert G, İncecik F, Hergüner MÖ, Ceylaner S, Altunbaşak Ş.Turk J Pediatr. 2015 Jul-Aug;57(4):394-397.PMID: 27186704 Review.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/27186704/
98- Crouzonodermoskeletal Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis.
Gürbüz F, Ceylaner S, Topaloğlu AK, Yüksel B.J Clin Res Pediatr Endocrinol. 2016 Sep 1;8(3):373-4. doi: 10.4274/jcrpe.3343. Epub 2016 May 16.PMID: 27181494 Free PMC article. No abstract available.
Makaleyi okumak için;
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5096508/
99- Sertoli cell only syndrome with ambiguous genitalia.
Gurbuz F, Ceylaner S, Erdogan S, Topaloglu AK, Yuksel B.J Pediatr Endocrinol Metab. 2016 Jul 1;29(7):849-52. doi: 10.1515/jpem-2015-0458.PMID: 27124672
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/27124672/
100- Merosin-negative congenital muscular dystrophy: Report of five cases.
Incecik F, Herguner OM, Ceylaner S, Altunbasak S.J Pediatr Neurosci. 2015 Oct-Dec;10(4):346-9. doi: 10.4103/1817-1745.174432.PMID: 26962340 Free PMC article.
Makaleyi okumak için;
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4770646/
101- Combination of two different homozygote mutations in Pompe disease.
Arslan A, Poyrazoğlu HG, Kiraz A, Özcan A, Işık H, Ergul AB, Mungan NÖ, Streubel B, Ceylaner S, Altuner Torun Y.Pediatr Int. 2016 Mar;58(3):241-3. doi: 10.1111/ped.12873.PMID: 26946079
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/26946079/
102- Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation.
Taskin BD, Karalok ZS, Gurkas E, Aydin K, Aydogmus U, Ceylaner S, Karaer K, Yilmaz C, Pearl PL.J Child Neurol. 2016 Jun;31(7):938-41. doi: 10.1177/0883073816630087. Epub 2016 Feb 18.PMID: 26893310 Free PMC article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/26893310/
103- Reversible clinical and magnetic resonance imaging findings ın late-onset cobalamin c defect.
Gurkas E, Kartal A, Aydin K, Kucukçongar A, Dilber C, Ceylaner S.Genet Couns. 2015;26(4):425-30.PMID: 26852513
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/26852513/
104- Citrin deficiency: an infant incidentally detected by phenylketonuria screening with a novel mutation in slc25a13 gene.
Zeybek AC, Kiykim E, Zubarioglu T, Cansever MS, Ceylaner S, Erkan T.Genet Couns. 2015;26(4):409-13.PMID: 26852511
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/26852511/
105- Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene.
Özcabı B, Tahmiscioğlu Bucak F, Ceylaner S, Özcan R, Büyükünal C, Ercan O, Tüysüz B, Evliyaoğlu O.J Clin Res Pediatr Endocrinol. 2015 Sep;7(3):242-8. doi: 10.4274/jcrpe.2067.PMID: 26831561 Free PMC article.
Makaleyi okumak için;
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4677562/
106- Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis.
Gürbüz F, Özalp Yüreğir Ö, Ceylaner S, Topaloğlu AK, Yüksel B.J Clin Res Pediatr Endocrinol. 2016 Mar 5;8(1):105-6. doi: 10.4274/jcrpe.2686. Epub 2015 Dec 18.PMID: 26757828 Free PMC article. No abstract available.
Makaleyi okumak için;
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805041/
107- Kept in Mind Infantile Neuroaxonal Dystrophy.
Karalok ZS, Taskin BD, Aydogmus U, Ceylaner S, Karaer K, Yilmaz C.Genet Couns. 2016;27(2):279-82.PMID: 29485838 No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/29485838/
108- Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene.
Gökben S, Serdaroğlu G, Yılmaz S, Bienvenu T, Ceylaner S.Turk J Pediatr. 2015 May-Jun;57(3):272-6.PMID: 26701947
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/26701947/
109- Maturity onset diabetes of youth (MODY) in Turkish children: sequence analysis of 11 causative genes by next generation sequencing.
Ağladıoğlu SY, Aycan Z, Çetinkaya S, Baş VN, Önder A, Peltek Kendirci HN, Doğan H, Ceylaner S.J Pediatr Endocrinol Metab. 2016 Apr;29(4):487-96. doi: 10.1515/jpem-2015-0039.PMID: 26669242
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/26669242/
110- Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin.
Horoz OO, Mungan NO, Yildizdas D, Hergüner Ö, Ceylaner S, Kör D, Waterham H, Coskun T.J Pediatr Endocrinol Metab. 2016 Feb;29(2):227-31. doi: 10.1515/jpem-2015-0198.PMID: 26444347
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/26444347/
111- Vici syndrome in siblings born to consanguineous parents.
Tasdemir S, Sahin I, Cayır A, Yuce I, Ceylaner S, Tatar A.Am J Med Genet A. 2016 Jan;170A(1):220-5. doi: 10.1002/ajmg.a.37398. Epub 2015 Sep 23.PMID: 26395118 Review.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/26395118/
112- X-linked adrenoleukodystrophy in a 6-year-old boy initially presenting with psychiatric symptoms.
İncecik F, Hergüner MÖ, Mert G, Önenli-Mungan N, Ceylaner S, Kör D, Altunbaşak Ş.Turk J Pediatr. 2014 Nov-Dec;56(6):651-3.PMID: 26388597
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/26388597/
113- Unilateral Ectrodactyly in a Newborn with Trisomy 18 Syndrome: An Unusual Association.
Kislal FM, Altuntas N, Ozdemir O, Ceylaner S, Kislal MH, Andiran N.J Coll Physicians Surg Pak. 2015 Aug;25(8):619-20.PMID: 26305313
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/26305313/
114- Mitochondrial Membrane Protein-Associated Neurodegeneration.
Yilmaz S, Gokben S, Ceylaner S.Pediatr Neurol. 2015 Oct;53(4):373-4. doi: 10.1016/j.pediatrneurol.2015.06.012. Epub 2015 Jun 21.PMID: 26231266 No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/27857812/
115- Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing.
Anık A, Çatlı G, Abacı A, Sarı E, Yeşilkaya E, Korkmaz HA, Demir K, Altıncık A, Tuhan HÜ, Kızıldağ S, Özkan B, Ceylaner S, Böber E.J Pediatr Endocrinol Metab. 2015 Nov 1;28(11-12):1265-71. doi: 10.1515/jpem-2014-0430.PMID: 26226118
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/26226118/
116- A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings.
Tos T, Alp MY, Aksoy A, Ceylaner S, Hanauer A.Genet Couns. 2015;26(1):47-52.PMID: 26043507
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/26043507/
117- Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up.
Yilmaz BS, Kor D, Mungan NO, Erdem S, Ceylaner S.J Pediatr Endocrinol Metab. 2015 Sep;28(9-10):1179-81. doi: 10.1515/jpem-2014-0528.PMID: 26030785
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/26030785/
118- A rare cause of fatal pulmonary alveolar proteinosis: Niemann-Pick disease type C2 and a novel mutation.
Yaman A, Eminoğlu FT, Kendirli T, Ödek Ç, Ceylaner S, Kansu A, İnce E, Deda G.J Pediatr Endocrinol Metab. 2015 Sep;28(9-10):1163-7. doi: 10.1515/jpem-2014-0358.PMID: 26024245
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/26024245/
119- Stimulus-induced myoclonus treated effectively with clonazepam in genetically confirmed Coffin-Lowry syndrome.
Arslan EA, Ceylaner S, Turanlı G.Epilepsy Behav Case Rep. 2014 Nov 25;2:196-8. doi: 10.1016/j.ebcr.2014.09.007. eCollection 2014.PMID: 25667906 Free PMC article.
Makaleyi okumak için;
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4308038/
120- Giant axonal disease: Report of eight cases.
Incecik F, Herguner OM, Ceylaner S, Zorludemir S, Altunbasak S.Brain Dev. 2015 Sep;37(8):803-7. doi: 10.1016/j.braindev.2014.12.002. Epub 2014 Dec 19.PMID: 25533284
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/25533284/
121- Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Romani M, Mancini F, Micalizzi A, Poretti A, Miccinilli E, Accorsi P, Avola E, Bertini E, Borgatti R, Romaniello R, Ceylaner S, Coppola G, D'Arrigo S, Giordano L, Janecke AR, Lituania M, Ludwig K, Martorell L, Mazza T, Odent S, Pinelli L, Poo P, Santucci M, Signorini S, Simonati A, Spiegel R, Stanzial F, Steinlin M, Tabarki B, Wolf NI, Zibordi F, Boltshauser E, Valente EM.Hum Genet. 2015 Jan;134(1):123-6. doi: 10.1007/s00439-014-1508-3. Epub 2014 Nov 19.PMID: 25407461 Free PMC article.
Makaleyi okumak için;
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4282684/
122- Cytokine concentrations in pediatric patients with Crimean-Congo hemorrhagic fever.
Tezer H, Ozkaya-Parlakay A, Kizilgün M, Kaya A, Gulhan B, Kanik Yüksek S, Kara SS, Sonmezer MC, Ceylaner S.Pediatr Infect Dis J. 2014 Nov;33(11):1185-7. doi: 10.1097/INF.0000000000000398.PMID: 25361408
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/25361408/
123- Three cases of Wolfram syndrome with different clinical aspects.
Çamtosun E, Şıklar Z, Kocaay P, Ceylaner S, Flanagan SE, Ellard S, Berberoğlu M.J Pediatr Endocrinol Metab. 2015 Mar;28(3-4):433-8. doi: 10.1515/jpem-2014-0139.PMID: 25210753
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/25210753/
124- A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV.
Hizarcioglu-Gulsen H, Yuce A, Akcoren Z, Berberoglu-Ates B, Aydemir Y, Sag E, Ceylaner S.JIMD Rep. 2014;17:63-6. doi: 10.1007/8904_2014_335. Epub 2014 Aug 26.PMID: 25155778 Free PMC article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/25155778/
125- A novel missense mutation in HSD17B3 gene in a 46, XY adolescent presenting with primary amenorrhea and virilization at puberty.
Tuhan HU, Anik A, Catli G, Ceylaner S, Dundar B, Bober E, Abaci A.Clin Chim Acta. 2015 Jan 1;438:154-6. doi: 10.1016/j.cca.2014.07.025. Epub 2014 Jul 24.PMID: 25064799
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/25064799/
126- Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene.
Gündüz M, Ekici F, Özaydın E, Ceylaner S, Perez B.Eur J Pediatr. 2014 Dec;173(12):1707-10. doi: 10.1007/s00431-014-2330-6. Epub 2014 May 24.PMID: 24853097
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/24853097/
127- Two novel missense mutations in nonketotic hyperglycinemia.
Yilmaz BS, Kor D, Ceylaner S, Mert GG, Incecik F, Kartal E, Mungan NO.J Child Neurol. 2015 May;30(6):789-92. doi: 10.1177/0883073814535499. Epub 2014 May 16.PMID: 24838951
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/24838951/
128- Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion.
Zamani AG, Acar A, Durakbasi-Dursun G, Yildirim MS, Ceylaner S, Tuncez E.Am J Med Genet A. 2014 May;164A(5):1239-44. doi: 10.1002/ajmg.a.36410. Epub 2014 Jan 29.PMID: 24478222
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/24478222/
129- A child with L-2 hydroxyglutaric aciduria presenting with dilated cardiomyopathy: coincidence or a new syndrome?
Işıkay S, Ceylaner S, Karacan M.Anadolu Kardiyol Derg. 2014 Feb;14(1):92-3. doi: 10.5152/akd.2013.5079. Epub 2013 Dec 18.PMID: 24382499 Free article. No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/24382499/
130- Single median maxillary central incisor syndrome and its clinical importance.
Aydemir H, Aydemir S, Bezgin T, Ceylaner S, Senel S.Genet Couns. 2014;25(4):453-5.PMID: 25804027 No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/25804027/
131- Prenatal diagnosis of Goldenhar syndrome with unusual features by 3D ultrasonography.
Guzelmansur I, Ceylaner G, Ceylaner S, Ceylan N, Daplan T.Genet Couns. 2013;24(3):319-25.PMID: 24341148
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/24341148/
132- Chronic lymphocytic leukemia in a child: a challenging diagnosis in pediatric oncology practice.
Demir HA, Bayhan T, Üner A, Kurtulan O, Karakuş E, Emir S, Özyörük D, Ceylaner S.Pediatr Blood Cancer. 2014 May;61(5):933-5. doi: 10.1002/pbc.24865. Epub 2013 Nov 19.PMID: 24249660
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/24249660/
133- A novel heterozygous mutation in steroidogenic factor-1 in pubertal virilization of a 46,XY female adolescent.
Sıklar Z, Berberoğlu M, Ceylaner S, Çamtosun E, Kocaay P, Göllü G, Sertçelik A, Öcal G.J Pediatr Adolesc Gynecol. 2014 Apr;27(2):98-101. doi: 10.1016/j.jpag.2013.06.006. Epub 2013 Nov 12.PMID: 24231572
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/24231572/
134- Are low maternal estriol levels a predictor for pro-opiomelanocortin (POMC) deficiency caused by POMC mutation during pregnancy?
Aldemir O, Ozen S, Sanlialp C, Ceylaner S.Prenat Diagn. 2013 Dec;33(13):1297-8. doi: 10.1002/pd.4226. Epub 2013 Sep 12.PMID: 24027193
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/24027193/
135- Nephron-sparing surgery for renal cell carcinoma of the allograft after renal transplantation: report of two cases.
Tuzuner A, Çakir F, Akyol C, Çelebi ZK, Ceylaner S, Ceylaner G, Sengül S, Keven K.Transplant Proc. 2013 Apr;45(3):958-60. doi: 10.1016/j.transproceed.2013.02.054.PMID: 23622598
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/23622598/
136- Acromesomelic dysplasia with cardiac and neurologic abnormalities: an association by chance, new features of maroteaux type or a new syndrome?
Kurt F, Ceylaner S, Yakut HI.Genet Couns. 2013;24(1):75-80.PMID: 23610868
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/23610868/
137- Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group, Johnson C, Attié-Bitach T, Gleeson JG, Valente EM.Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6.PMID: 23386033 Free PMC article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/23386033/
138- Primary adrenal insufficiency caused by a novel mutation in DAX1 gene.
Evliyaoğlu O, Dokurel İ, Bucak F, Özcabı B, Ercan Ö, Ceylaner S.J Clin Res Pediatr Endocrinol. 2013;5(1):55-7. doi: 10.4274/Jcrpe.895.PMID: 23367499 Free PMC article.
Makaleyi okumak için;
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3628394/
139- Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome.
Hakan N, Eminoglu FT, Aydin M, Zenciroglu A, Karadag NN, Dursun A, Okumus N, Ceylaner S.Congenit Anom (Kyoto). 2012 Dec;52(4):216-8. doi: 10.1111/j.1741-4520.2012.00360.x.PMID: 23181498
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/23181498/
140- A 7q11.23 microduplication patient with cerebral palsy and facial dysmorphism.
Değerliyurt A, Ceylaner S, Ozdağ H.Genet Couns. 2012;23(2):263-7.PMID: 22876586
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/22876586/
141- A new family with autosomal dominant porencephaly with a novel Col4A1 mutation. Are arachnoid cysts related to Col4A1 mutations?
Değerliyurt A, Ceylaner G, Koçak H, Bilginer Gürbüz B, Cihan BS, Rizzu P, Ceylaner S.Genet Couns. 2012;23(2):185-93.PMID: 22876576
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/22876576/
142- The earlier described mutation (c.307c > T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype.
Simsek E, Binay C, Ceylaner S.J Pediatr Endocrinol Metab. 2012;25(5-6):543-5. doi: 10.1515/jpem-2011-0497.PMID: 22876553
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/22876553/
143-Carbamazepine use in pregnancy and coincidental thalidomide-like phocomelia in a newborn.
Dursun A, Karadağ N, Karagöl B, Kundak AA, Zenciroğlu A, Okumuş N, Ceylaner S.J Obstet Gynaecol. 2012 Jul;32(5):488-9. doi: 10.3109/01443615.2012.673037.PMID: 22663328 No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/22663328/
144- Hydranencephaly, pituitary hypoplasia, and anophthalmia in a male infant.
Köstü M, Tuncer O, Ceylaner S, Caksen H.Clin Dysmorphol. 2012 Jul;21(3):155-6. doi: 10.1097/MCD.0b013e3283548240.PMID: 22610272 No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/22610272/
145- Genetic evaluation of severe male factor infertility in Turkey: a cross-sectional study.
Cavkaytar S, Batioglu S, Gunel M, Ceylaner S, Karaer A.Hum Fertil (Camb). 2012 Jun;15(2):100-6. doi: 10.3109/14647273.2012.685923.PMID: 22524445
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/22524445/
146- High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey.
Kalb S, Caglayan AO, Degerliyurt A, Schmid S, Ceylaner S, Hatipoglu N, Hinderhofer K, Rehder H, Kurtoglu S, Ceylaner G, Zschocke J, Witsch-Baumgartner M.Clin Genet. 2012 Jun;81(6):598-601. doi: 10.1111/j.1399-0004.2011.01750.x. Epub 2011 Dec 28.PMID: 22211794 No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/22211794/
147- Ovulation induction with gonadotropins causes increased sister chromatid exchanges.
Tonguç E, Ceylaner G, Var T, Zülfkaroğlu E, Ceylaner S.Genet Couns. 2011;22(2):193-8.PMID: 21848012
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/21848012/
148- A new variant of a known mutation in two siblings with permanent neonatal diabetes mellitus.
Aycan Z, Cetinkaya S, Oğuz SS, Ceylaner S.J Pediatr Endocrinol Metab. 2011;24(5-6):373-5. doi: 10.1515/jpem.2011.187.PMID: 21823539
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/21823539/
149- Coexistence of borderline ovarian epithelial tumor, primary pelvic hydatid cyst, and lymphoepithelioma-like gastric carcinoma.
Gungor T, Altinkaya SO, Sirvan L, Lafuente RA, Ceylaner S.Taiwan J Obstet Gynecol. 2011 Jun;50(2):201-4. doi: 10.1016/j.tjog.2009.10.005.PMID: 21791308 Free article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/21791308/
150- A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome.
Senel S, Ceylaner S, Ceylaner G, Sahin AH, Andrieux J, Delaunoy JP.Genet Couns. 2011;22(1):21-4.PMID: 21614984
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/21614984/
151- A case of lower mesodermal defects sequence.
Tos T, Aktas S, Ikbal M, Avci M, Senel S, Ceylaner S.Genet Couns. 2010;21(4):381-4.PMID: 21290967
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/21290967/
152- Sporadic nonautoimmune neonatal hyperthyroidism due to A623V germline mutation in the thyrotropin receptor gene.
Aycan Z, Ağladıoğlu SY, Ceylaner S, Cetinkaya S, Baş VN, Kendirici HN.J Clin Res Pediatr Endocrinol. 2010;2(4):168-72. doi: 10.4274/jcrpe.v2i4.168. Epub 2010 Nov 7.PMID: 21274318 Free PMC article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/21274318/
153- Histopathological analysis of the placental lesions in pregnancies complicated with IUGR and stillbirths in comparison with noncomplicated pregnancies.
Günyeli I, Erdemoğlu E, Ceylaner S, Zergeroğlu S, Mungan T.J Turk Ger Gynecol Assoc. 2011 Jun 1;12(2):75-9. doi: 10.5152/jtgga.2011.19. eCollection 2011.PMID: 24591966 Free PMC article.
Makaleyi okumak için;
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3939110/
154- A case of otocephaly with anencephaly and meningomyelocele.
Tos T, Ceylaner S, Senel S, Aktas S, Alp Y.Genet Couns. 2010;21(3):325-8.PMID: 20964124
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/20964124/
155- An uncommon complementary isochromosome of 46,XY, i(9)(p10),i(9)(q10) in an infertile oligoasthenoteratozoospermic man.
Guvendag Guven ES, Dilbaz S, Ceylaner S, Acar H, Cinar O, Ozdegirmenci O, Karcaaltincaba D.Fertil Steril. 2011 Jan;95(1):290.e5-8. doi: 10.1016/j.fertnstert.2010.05.028. Epub 2010 Jun 20.PMID: 20646692
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/20646692/
156- Carmi syndrome with congenital heart defects.
Aydin M, Zenciroglu A, Yaman A, Orun UA, Arda N, Colak AG, Okumus N, Ipek MS, Ceylaner S.Am J Med Genet A. 2010 Aug;152A(8):2120-2. doi: 10.1002/ajmg.a.33520.PMID: 20635364 No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/20635364/
157- Lumbocostovertebral syndrome in an infant of a diabetic mother.
Okumus N, Bas AY, Demirel N, Zenciroglu A, Surmeli S, Ceylaner S.Am J Med Genet A. 2010 Jun;152A(6):1374-7. doi: 10.1002/ajmg.a.33465.PMID: 20503310
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/20503310/
158- Genetic abnormalities in Turkish women with premature ovarian failure.
Ceylaner G, Altinkaya SO, Mollamahmutoglu L, Ceylaner S.Int J Gynaecol Obstet. 2010 Aug;110(2):122-4. doi: 10.1016/j.ijgo.2010.03.023. Epub 2010 May 15.PMID: 20471647
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/20471647/
159- Partial trisomy due to a de novo duplication 22q11.1-22q13.1: a cat-eye syndrome variant with brain anomalies.
Karcaaltincaba D, Ceylaner S, Ceylaner G, Dalkilic S, Karli-Oguz K, Kandemir O.Genet Couns. 2010;21(1):19-24.PMID: 20420025
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/20420025/
160- Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.
Morgan NV, Morris MR, Cangul H, Gleeson D, Straatman-Iwanowska A, Davies N, Keenan S, Pasha S, Rahman F, Gentle D, Vreeswijk MP, Devilee P, Knowles MA, Ceylaner S, Trembath RC, Dalence C, Kismet E, Köseoğlu V, Rossbach HC, Gissen P, Tannahill D, Maher ER.PLoS Genet. 2010 Feb 5;6(2):e1000833. doi: 10.1371/journal.pgen.1000833.PMID: 20140240 Free PMC article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/20140240/
161- Vascular endothelial growth factor +405 C/G polymorphism is highly associated with an increased risk of endometriosis in Turkish women.
Altinkaya SO, Ugur M, Ceylaner G, Ozat M, Gungor T, Ceylaner S.Arch Gynecol Obstet. 2011 Feb;283(2):267-72. doi: 10.1007/s00404-009-1344-1. Epub 2009 Dec 30.PMID: 20041256
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/20041256/
162- A Feingold syndrome case with previously undescribed features and a new mutation.
Koçak H, Ozaydin E, Köse G, Marcelis CL, Kamsteeg EJ, Ceylaner S.Genet Couns. 2009;20(3):261-7.PMID: 19852433
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/19852433/
163- Prenatal diagnosis of a case with anencephaly-omphalocele-unilateral absent radial ray.
Ceylaner S, Ceylaner G, Altun M, Coşkun A, Danisman N.Genet Couns. 2009;20(2):189-93.PMID: 19650417
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/19650417/
164- Prenatal diagnosis of a case probably with Oral-Facial-Digital Syndrome--Gabrielli type.
Güven MA, Ceylaner G, Ceylaner S, Uzel M, Coskun A.Genet Couns. 2009;20(2):167-72.PMID: 19650414
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/19650414/
165- A boy with trisomy 13 presenting with a subtle clinical picture and metopic synostosis.
Unal S, Celik FC, Soy D, Ceylaner S, Ceylaner G.Am J Med Genet A. 2009 Jul;149A(7):1608-9. doi: 10.1002/ajmg.a.32912.PMID: 19533776 No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/19533776/
166- Hypomelanosis of Ito and Sturge-Weber syndrome without facial nevus: an association or a new syndrome?
Değerliyurt A, Kantar A, Ceylaner S, Aysun S.Pediatr Neurol. 2009 May;40(5):395-7. doi: 10.1016/j.pediatrneurol.2008.11.017.PMID: 19380080
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/19380080/
167- A prenatally diagnosed case of sirenomelia with polydactyly and vestigial tail.
Guven MA, Uzel M, Ceylaner S, Coskun A, Ceylaner G, Gungoren A.Genet Couns. 2008;19(4):419-24.PMID: 19239086
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/19239086/
168- Autosomal dominant inheritance of congenital dislocation of the hip in 16 members of a family.
Ceylaner G, Ceylaner S, Ustünkan F, Inan M.Acta Orthop Traumatol Turc. 2008 Aug-Oct;42(4):289-91. doi: 10.3944/aott.2008.289.PMID: 19060525 Free article. Turkish.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/19060525/
169- Y chromosome azoospermia factor region microdeletions and recurrent pregnancy loss.
Karaer A, Karaer K, Ozaksit G, Ceylaner S, Percin EF.Am J Obstet Gynecol. 2008 Dec;199(6):662.e1-5. doi: 10.1016/j.ajog.2008.06.013. Epub 2008 Sep 25.PMID: 18822402
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/18822402/
170- Apparent Lenz microphthalmia syndrome: a patient with unusual manifestations.
Okumus N, Zenciroglu A, Demirel N, Bas AY, Ceylaner S.Genet Couns. 2008;19(2):177-82.PMID: 18618992
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/18618992/
171-Goldenhar syndrome associated with growth hormone deficiency.
Yusufoğlu AM, Cetinkaya E, Ceylaner S, Aycan Z, Kibar E, Ekici F, Kizilgün M.Genet Couns. 2008;19(2):173-6.PMID: 18618991 Review.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/18618991/
172- GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals.
Baysal E, Bayazit YA, Ceylaner S, Alatas N, Donmez B, Ceylaner G, San I, Korkmaz B, Yilmaz A, Menevse A, Altunyay S, Gunduz B, Goksu N, Arslan A, Ekmekci A.J Genet. 2008 Apr;87(1):53-7. doi: 10.1007/s12041-008-0007-5.PMID: 18560174 Free article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/18560174/
173- Proteus syndrome in the aetiology of carpal tunnel syndrome.
Senel S, Okumus N, Ceylaner S.Acta Orthop Belg. 2007 Aug;73(4):548; author reply 548.PMID: 17939492 No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/17939492/
174- Is it a Proteus syndrome?
Senel S, Senel E, Ceylaner S.J Pediatr Orthop B. 2007 Sep;16(5):385; author reply 385. doi: 10.1097/BPB.0b013e32825ea7b8.PMID: 17762684 No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/17762684/
175- Chromosomal heteromorphisms may help for the diagnosis of uniparental disomy (UPD): a case report.
Ceylaner G, Ceylaner S, Danişman N, Ergün A, Ekici E, Schinzel A, Baumer A.Prenat Diagn. 2007 Nov;27(11):1072-4. doi: 10.1002/pd.1814.PMID: 17705156 No abstract available.
Makaleyi okumak için;
https://obgyn.onlinelibrary.wiley.com/doi/10.1002/pd.1814
176- Evaluation of 2407 fetuses in a Turkish population.
Ceylaner G, Ceylaner S, Günyeli I, Ekici E, Celasun B, Danişman N.Prenat Diagn. 2007 Sep;27(9):800-7. doi: 10.1002/pd.1762.PMID: 17582619
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/17582619/
177- Prenatal diagnosis of a Turkish Bartsocas-Papas syndrome case with upper limb pterigia.
Ceylaner G, Güven MA, Ceylaner S, Uzel M, Müftüoğlu K.Prenat Diagn. 2007 Jun;27(6):563-5. doi: 10.1002/pd.1723.PMID: 17457955
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/17457955/
178- Neu-Laxova syndrome, grossly appearing normal on 20 weeks ultrasonographic scan, that manifested late in pregnancy: a case report.
Kahyaoglu S, Turgay I, Ertas IE, Ceylaner S, Danisman N.Arch Gynecol Obstet. 2007 Oct;276(4):367-70. doi: 10.1007/s00404-007-0349-x. Epub 2007 Apr 4.PMID: 17406877
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/17406877/
179- An infant with diaphragmatic hernia, anophthalmia and cardiac defect: evaluation by magnetic resonance imaging autopsy.
Ceylaner S, Gozer HE, Ceylaner G, Ertas IE, Kizilates SU, Edguer T.Genet Couns. 2006;17(2):231-6.PMID: 16970042
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/16970042/
180- Extremely skewed X-chromosome inactivation patterns in women with recurrent spontaneous abortion.
Bagislar S, Ustuner I, Cengiz B, Soylemez F, Akyerli CB, Ceylaner S, Ceylaner G, Acar A, Ozcelik T.Aust N Z J Obstet Gynaecol. 2006 Oct;46(5):384-7. doi: 10.1111/j.1479-828X.2006.00622.x.PMID: 16953851
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/16953851/
181- Prenatal and postnatal findings in a case with the autosomal recessive type of Robinow syndrome.
Guven MA, Batukan C, Ceylaner S, Uzel M, Ozbek A, Demirpolat G.Fetal Diagn Ther. 2006;21(4):386-9. doi: 10.1159/000092471.PMID: 16757917
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/16757917/
182- Prenatal diagnosis of Meckel Gruber syndrome presenting with renal agenesis: report of a case.
Guven MA, Ceylaner S, Ceylaner G, Gul D, Ertas IE.Genet Couns. 2006;17(1):65-8.PMID: 16719279 No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/16719279/
183- A case of fetal anticonvulsant syndrome with severe bilateral upper limb defect.
Guven MA, Batukan C, Ceylaner S, Ceylaner G, Uzel M.J Matern Fetal Neonatal Med. 2006 Feb;19(2):115-7. doi: 10.1080/14767050500420665.PMID: 16676441
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/16676441/
184- Postmortem evaluation of 220 prenatally diagnosed fetuses with neural tube defects: detection of associated anomalies in a Turkish population.
Ceylaner S, Ceylaner G, Günyeli I, Ekici E, Tuğ M, Taner D, Ekerbicer H, Mollamahmutoğlu L, Danişman N.Prenat Diagn. 2006 Feb;26(2):147-53. doi: 10.1002/pd.1378.PMID: 16470735
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/16470735/
185- SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.
Kohlhase J, Chitayat D, Kotzot D, Ceylaner S, Froster UG, Fuchs S, Montgomery T, Rösler B.Hum Mutat. 2005 Sep;26(3):176-83. doi: 10.1002/humu.20215.PMID: 16086360
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/16086360/
186- A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient.
Walker LC, Overstreet MA, Siddiqui A, De Paepe A, Ceylaner G, Malfait F, Symoens S, Atsawasuwan P, Yamauchi M, Ceylaner S, Bank RA, Yeowell HN.J Invest Dermatol. 2005 May;124(5):914-8. doi: 10.1111/j.0022-202X.2005.23727.x.PMID: 15854030 Free article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/15854030/
187- Craniosynostosis and ectopia lentis in a propositus whose parents are cousins.
Güven D, Ceylaner S, Kalayci D, Ceylaner G, Hasiripi H.Am J Med Genet A. 2005 Apr 15;134A(2):231. doi: 10.1002/ajmg.a.30597.PMID: 15704181 No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/15704181/
188- Prenatal sonographic findings in a case of Varadi-Papp syndrome.
Guven MA, Ceylaner S, Prefumo F, Uzel M.Prenat Diagn. 2004 Dec 15;24(12):989-91. doi: 10.1002/pd.916.PMID: 15614844
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/15614844/
189- Three new cases of disorganizationlike syndrome: one with accessory extrophia vesicalis.
Ilkehan H, Coban YK, Guven MA, Ceylaner S.J Pediatr Surg. 2004 Sep;39(9):e6-8. doi: 10.1016/j.jpedsurg.2004.05.028.PMID: 15359417
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/15359417/
190- Empty follicle syndrome in two sisters with three cycles: case report.
Onalan G, Pabuçcu R, Onalan R, Ceylaner S, Selam B.Hum Reprod. 2003 Sep;18(9):1864-7. doi: 10.1093/humrep/deg371.PMID: 12923140
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/12923140/
191- Asymmetric crying facies associated with hemihypertrophy: report of one case.
Caksen H, Patiroğlu T, Ciftçi A, Cikrikçi V, Ceylaner S.Acta Paediatr Taiwan. 2003 Mar-Apr;44(2):98-100.PMID: 12845851
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/12845851/
192- Evaluation of segregation patterns of 21;21 Robertsonian translocation along with sex chromosomes and interchromosomal effects in sperm nuclei of carrier by FISH technique.
Acar H, Yildirim MS, Cora T, Ceylaner S.Mol Reprod Dev. 2002 Oct;63(2):232-6. doi: 10.1002/mrd.10166.PMID: 12203833
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/12203833/
193- Cutis laxa with growth and developmental delay.
Karakurt C, Sipahi T, Ceylaner S, Senocak F, Karademir S, Becer M.Clin Pediatr (Phila). 2001 Jul;40(7):422-3. doi: 10.1177/000992280104000715.PMID: 11491141 No abstract available.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/11491141/
194- A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data.
Sayli BS, Akarsu AN, Sayli U, Akhan O, Ceylaner S, Sarfarazi M.J Med Genet. 1995 Jun;32(6):421-34. doi: 10.1136/jmg.32.6.421.PMID: 7666393 Free PMC article.
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/7666393/
195- Sequence Analysis of 11 Known Causative Genes in Clinically Diagnosed Children as Maturity Onset Diabetes of Youth by Next Generation Sequencing
Sebahat Yilmaz Agladioglua, Zehra Aycana, Semra Cetinkaya, Veysel Nijat Bas, Asan Onder, Havva Nur Peltek Kendirci, Haldun Dogan & Serdar Ceylaner ESPE 2014 Dublin, Ireland 20-22 September 2014 European Society for Paediatric Endocrinology
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/26669242/
196- Case Report: Stimulus-induced myoclonus treated effectively with clonazepam in genetically confirmed Coffin–Lowry syndrome.
Arslan, Elif Acar ; Ceylaner, Serdar ; Turanlı, Güzide In Epilepsy & Behavior Case Reports 2014 2:196-198
Makaleyi okumak için;
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4308038/
197- Tip 1 Otoimmün Poliendokrinopati Sendrom’lu İki kız Kardeş. Çocuk Endokrinolojisi Olgu Sunumları
Esen, İ., Kara A., Ceylaner S. 6-. İzmir, 18–19 Nisan 2014
Makaleyi okumak için;
198- Pubertal virilisation of a 46,XY female adolescent without adrenal insufficiency due to a novel heterozygous mutation in steroidogenic factor-1
Zeynep Siklar, Gönül Öcal, Serdar Ceylaner, Emine Camtosun, Pınar Kocaay, Gülnur Göllü, Ayşe Sertçelik, Merih Berberoglu 9th Joint Meeting of Paediatric Endocrinology 2013
Makaleyi okumak için;
https://pubmed.ncbi.nlm.nih.gov/24231572/
199- A case of Hallervorden-Spatz disease initially presented with stammering and speech disorder.
Sonmez FM, Donmez A, Ceylaner S, Aydin F (Turkey) 10th European Paediatric Neurology Society Congress 2013
Makaleyi okumak için;