Bilguvar K - Search Results

1

A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group.

Bayrakli F, Guney I, Bayri Y, Ercan-Sencicek AG, Ceyhan D, Cankaya T, Mason C, Bilguvar K, Bayrakli S, Mane SM, State MW, Gunel M. Bayrakli F, et al. Among authors: bilguvar k. J Clin Neurosci. 2009 Dec;16(12):1610-4. doi: 10.1016/j.jocn.2009.03.022. Epub 2009 Sep 29. J Clin Neurosci. 2009. PMID: 19793656

2

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.

Almousa H, Lewis SA, Bakhtiari S, Nordlie SH, Pagnozzi A, Magee H, Efthymiou S, Heim JA, Cornejo P, Zaki MS, Anwar N, Maqbool S, Rahman F, Neilson DE, Vemuri A, Jin SC, Yang XR, Heidari A, van Gassen K, Trimouille A, Thauvin-Robinet C, Liu J, Bruel AL, Tomoum H, Shata MO, Hashem MO, Toosi MB, Karimiani EG, Yeşil G, Lingappa L, Baruah D, Ebrahimzadeh F, Van-Gils J, Faivre L, Zamani M, Galehdari H, Sadeghian S, Shariati G, Mohammad R, van der Smagt J, Qari A, Vincent JB, Innes AM, Dursun A, Özgül RK, Akar HT, Bilguvar K, Mignot C, Keren B, Raveli C, Burglen L, Afenjar A, Kaat LD, van Slegtenhorst M, Alkuraya F, Houlden H, Padilla-Lopez S, Maroofian R, Sacher M, Kruer MC. Almousa H, et al. Among authors: bilguvar k. Brain. 2024 Jan 4;147(1):311-324. doi: 10.1093/brain/awad301. Brain. 2024. PMID: 37713627 Free PMC article.

3

Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes.

Tuysuz B, Uludag Alkaya D, Geyik F, Alaylıoğlu M, Kasap B, Kurugoğlu S, Akman YE, Vural M, Bilguvar K. Tuysuz B, et al. Among authors: bilguvar k. J Med Genet. 2023 Aug;60(8):819-826. doi: 10.1136/jmg-2022-108763. Epub 2022 Dec 21. J Med Genet. 2023. PMID: 36543534

4

Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3.

Guclu B, Ozturk AK, Pricola KL, Bilguvar K, Shin D, O'Roak BJ, Gunel M. Guclu B, et al. Among authors: bilguvar k. Neurosurgery. 2005 Nov;57(5):1008-13. doi: 10.1227/01.neu.0000180811.56157.e1. Neurosurgery. 2005. PMID: 16284570

5

Molecular genetic analysis of two large kindreds with intracranial aneurysms demonstrates linkage to 11q24-25 and 14q23-31.

Ozturk AK, Nahed BV, Bydon M, Bilguvar K, Goksu E, Bademci G, Guclu B, Johnson MH, Amar A, Lifton RP, Gunel M. Ozturk AK, et al. Among authors: bilguvar k. Stroke. 2006 Apr;37(4):1021-7. doi: 10.1161/01.STR.0000206153.92675.b9. Epub 2006 Feb 23. Stroke. 2006. PMID: 16497978

6

Genetics of intracranial aneurysms.

Nahed BV, Bydon M, Ozturk AK, Bilguvar K, Bayrakli F, Gunel M. Nahed BV, et al. Among authors: bilguvar k. Neurosurgery. 2007 Feb;60(2):213-25; discussion 225-6. doi: 10.1227/01.NEU.0000249270.18698.BB. Neurosurgery. 2007. PMID: 17290171 Review.

7

Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts.

Guzel A, Tatli M, Bilguvar K, Diluna ML, Bakkaloglu B, Ozturk AK, Bayrakli F, Gunel M. Guzel A, et al. Among authors: bilguvar k. Am J Med Genet A. 2007 Apr 1;143A(7):672-7. doi: 10.1002/ajmg.a.31640. Am J Med Genet A. 2007. PMID: 17343267

8

Rapid identification of disease-causing mutations using copy number analysis within linkage intervals.

Bayrakli F, Bilguvar K, Mason CE, DiLuna ML, Bayri Y, Gungor L, Terzi M, Mane SM, Lifton RP, State MW, Gunel M. Bayrakli F, et al. Among authors: bilguvar k. Hum Mutat. 2007 Dec;28(12):1236-40. doi: 10.1002/humu.20592. Hum Mutat. 2007. PMID: 17676595

9

A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation.

Bilguvar K, Bydon M, Bayrakli F, Ercan-Sencicek AG, Bayri Y, Mason C, DiLuna ML, Seashore M, Bronen R, Lifton RP, State M, Gunel M. Bilguvar K, et al. J Neurosurg. 2007 Dec;107(6 Suppl):495-9. doi: 10.3171/PED-07/12/495. J Neurosurg. 2007. PMID: 18154020

10

Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population.

Tüysüz B, Bayrakli F, DiLuna ML, Bilguvar K, Bayri Y, Yalcinkaya C, Bursali A, Ozdamar E, Korkmaz B, Mason CE, Ozturk AK, Lifton RP, State MW, Gunel M. Tüysüz B, et al. Among authors: bilguvar k. Neurogenetics. 2008 May;9(2):119-25. doi: 10.1007/s10048-008-0121-9. Epub 2008 Mar 6. Neurogenetics. 2008. PMID: 18322713

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