Ceylaner S - Search Results

1

Vici syndrome in siblings born to consanguineous parents.

Tasdemir S, Sahin I, Cayır A, Yuce I, Ceylaner S, Tatar A. Tasdemir S, et al. Among authors: ceylaner s. Am J Med Genet A. 2016 Jan;170A(1):220-5. doi: 10.1002/ajmg.a.37398. Epub 2015 Sep 23. Am J Med Genet A. 2016. PMID: 26395118 Review.

2

A rare mutation in the EPG5 gene causes Vici syndrome.

Demiral E, Sen A, Esener Z, Ceylaner S, Tekedereli I. Demiral E, et al. Among authors: ceylaner s. Clin Dysmorphol. 2018 Oct;27(4):145-147. doi: 10.1097/MCD.0000000000000233. Clin Dysmorphol. 2018. PMID: 29944490 No abstract available.

3

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. Chawner SJRA, et al. Eur J Med Genet. 2020 Dec;63(12):104093. doi: 10.1016/j.ejmg.2020.104093. Epub 2020 Nov 5. Eur J Med Genet. 2020. PMID: 33160096 Free article.

4

Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).

Gökpınar İli E, Taşdelen E, Durmaz CD, Altıner Ş, Tuncalı T, Martinez-Glez V, Karabulut HG, Vural S, Ceylaner S, Acar MO, Ilgın Ruhi H. Gökpınar İli E, et al. Among authors: ceylaner s. Am J Med Genet A. 2022 Jun;188(6):1792-1800. doi: 10.1002/ajmg.a.62709. Epub 2022 Mar 2. Am J Med Genet A. 2022. PMID: 35238469

5

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. Sayli BS, et al. Among authors: ceylaner s. J Med Genet. 1995 Jun;32(6):421-34. doi: 10.1136/jmg.32.6.421. J Med Genet. 1995. PMID: 7666393 Free PMC article.

6

Prenatal diagnosis of a Turkish Bartsocas-Papas syndrome case with upper limb pterigia.

Ceylaner G, Güven MA, Ceylaner S, Uzel M, Müftüoğlu K. Ceylaner G, et al. Among authors: ceylaner s. Prenat Diagn. 2007 Jun;27(6):563-5. doi: 10.1002/pd.1723. Prenat Diagn. 2007. PMID: 17457955

7

A Feingold syndrome case with previously undescribed features and a new mutation.

Koçak H, Ozaydin E, Köse G, Marcelis CL, Kamsteeg EJ, Ceylaner S. Koçak H, et al. Among authors: ceylaner s. Genet Couns. 2009;20(3):261-7. Genet Couns. 2009. PMID: 19852433

8

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. Karcaaltincaba D, et al. Among authors: ceylaner s, ceylaner g. Genet Couns. 2010;21(1):19-24. Genet Couns. 2010. PMID: 20420025

9

Lumbocostovertebral syndrome in an infant of a diabetic mother.

Okumus N, Bas AY, Demirel N, Zenciroglu A, Surmeli S, Ceylaner S. Okumus N, et al. Among authors: ceylaner s. Am J Med Genet A. 2010 Jun;152A(6):1374-7. doi: 10.1002/ajmg.a.33465. Am J Med Genet A. 2010. PMID: 20503310

10

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. Taskin BD, et al. Among authors: ceylaner s. J Child Neurol. 2016 Jun;31(7):938-41. doi: 10.1177/0883073816630087. Epub 2016 Feb 18. J Child Neurol. 2016. PMID: 26893310 Free PMC article.

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