Silan F - Search Results

1

CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow.

Kim AH, Sakin I, Viviano S, Tuncel G, Aguilera SM, Goles G, Jeffries L, Ji W, Lakhani SA, Kose CC, Silan F, Oner SS, Kaplan OI; MarmaRare Group; Ergoren MC, Mishra-Gorur K, Gunel M, Sag SO, Temel SG, Deniz E. Kim AH, et al. Among authors: silan f. Life Sci Alliance. 2024 Aug 21;7(10):e202402708. doi: 10.26508/lsa.202402708. Print 2024 Oct. Life Sci Alliance. 2024. PMID: 39168639 Free PMC article.

2

A case report of a patient with neurodevelopmental disorder with impaired speech and hyperkinetic movements: A biallelic variant in the ZNF142 gene.

Kaya D, Ceylan Köse C, Akcan MB, Silan F. Kaya D, et al. Among authors: silan f. Am J Med Genet A. 2024 Sep;194(9):e63636. doi: 10.1002/ajmg.a.63636. Epub 2024 Apr 24. Am J Med Genet A. 2024. PMID: 38655717

3

Exploring genetic variants in congenital monosaccharide-disaccharide metabolism: Carrier ratios and phenotypic insights.

Akcan MB, Silan F. Akcan MB, et al. Among authors: silan f. J Pediatr Gastroenterol Nutr. 2024 Jun;78(6):1251-1260. doi: 10.1002/jpn3.12223. Epub 2024 Apr 29. J Pediatr Gastroenterol Nutr. 2024. PMID: 38682389

4

Expanding the Genetic and Phenotypic Spectrum of Mowat-Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion.

Kablan A, Aru EE, Atar S, Gumus AA, İli EG, Kayhan G, Tekin K, Silan F. Kablan A, et al. Among authors: silan f. Am J Med Genet A. 2024 Nov 11:e63922. doi: 10.1002/ajmg.a.63922. Online ahead of print. Am J Med Genet A. 2024. PMID: 39526569

5

Spinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey.

Celik KM, Kose CC, Kaya D, Tekin K, Silan F. Celik KM, et al. Among authors: silan f. J Community Genet. 2024 Oct 11. doi: 10.1007/s12687-024-00737-4. Online ahead of print. J Community Genet. 2024. PMID: 39392569

6

Intramuscular hemangioma of the infraspinatus muscle: a rare presentation.

Silan F, Ortega Fernandez L, Parcet Riu J, Alvarez Alonso S, Montes Moreno S. Silan F, et al. Case Reports Plast Surg Hand Surg. 2024 Aug 20;11(1):2393819. doi: 10.1080/23320885.2024.2393819. eCollection 2024. Case Reports Plast Surg Hand Surg. 2024. PMID: 39170854 Free PMC article.

7

Evaluation of Smooth Muscle Myosin Heavy Chain Isoform Expressions in a Buried Penis.

Kurtuluş Ş, Süzen A, Sılan F, Öztopuz RÖ. Kurtuluş Ş, et al. Among authors: silan f. J Pediatr Surg. 2024 Aug;59(8):1526-1530. doi: 10.1016/j.jpedsurg.2024.03.036. Epub 2024 Mar 20. J Pediatr Surg. 2024. PMID: 38631998

8

Genetic influence on urinary vitamin D binding protein excretion and serum levels: a focus on rs4588 C>A polymorphism in the GC gene.

Doğan D, Özcan EG, Çakır DÜ, Sılan F. Doğan D, et al. Among authors: silan f. Front Endocrinol (Lausanne). 2023 Dec 7;14:1281112. doi: 10.3389/fendo.2023.1281112. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 38144557 Free PMC article.

9

Anemia and thrombocytopenia due to a novel BRPF1 variant in a family from Çanakkale with intellectual disability and dysmorphic facies: Case report and review of the literature.

Kose CC, Kaya D, Akcan MB, Silan F. Kose CC, et al. Among authors: silan f. Am J Med Genet A. 2023 Aug;191(8):2209-2214. doi: 10.1002/ajmg.a.63244. Epub 2023 May 15. Am J Med Genet A. 2023. PMID: 37190896 Review.

10

Re-evaluation of Genetic Variants in Parkinson's Disease Using Targeted Panel and Next-Generation Sequencing.

Kablan A, Silan F, Ozdemir O. Kablan A, et al. Among authors: silan f. Twin Res Hum Genet. 2023 Apr;26(2):164-170. doi: 10.1017/thg.2023.14. Epub 2023 May 4. Twin Res Hum Genet. 2023. PMID: 37139776

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