Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Filiz Basak Cengiz"'
Autor:
Meng Su, Paul J. Benke, Guney Bademci, Filiz Basak Cengiz, Xiaomei Ouyang, Jinghong Peng, Carmen E. Casas, Mustafa Tekin, Yao-Shan Fan
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-6 (2018)
Abstract Background Partial monosomy 21 is a rare finding with variable sizes and deletion breakpoints, presenting with a broad spectrum of phenotypes. Case presentation We report a 10-month-old boy with short stature, minor anomalies and mild motor
Externí odkaz:
https://doaj.org/article/8e6841c5b5664d6aa6c6723ff7be68d2
Autor:
Megan McSherry, Katherine E Masih, Nursel H Elcioglu, Pelin Celik, Ozge Balci, Filiz Basak Cengiz, Daniella Nunez, Claire J Sineni, Serhat Seyhan, Defne Kocaoglu, Shengru Guo, Duygu Duman, Guney Bademci, Mustafa Tekin
Publikováno v:
PLoS ONE, Vol 13, Iss 11, p e0208324 (2018)
The etiology of intellectual disability (ID) is heterogeneous including a variety of genetic and environmental causes. Historically, most research has not focused on autosomal recessive ID (ARID), which is a significant cause of ID, particularly in a
Externí odkaz:
https://doaj.org/article/2b4a57a74b444ecdad297240d83a1197
Autor:
Çisem Yıldız, Deniz Gezgin Yıldırım, Asli Inci, Leyla Tümer, Filiz Basak Cengiz Ergin, Emine Nur Sunar Sunar Yayla, Pelin Esmeray Şenol, Nihal Karaçayır, Ödül Eğritaş Gürkan, Ilyas Okur, Fatih S. Ezgü, Sevcan A. Bakkaloğlu
© 2022Background: Mevalonate kinase (MVK) plays a role in cholesterol and non-sterol isoprenoid biosynthesis and its deficiency-related diseases are caused by bi-allelic pathogenic mutations in the MVK gene, (MVK), which leads to rare hereditary aut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2de151649ca0c605e9d9723df4c65406
https://avesis.gazi.edu.tr/publication/details/2ecba8fa-27bd-4777-baa6-0b06ee25f697/oai
https://avesis.gazi.edu.tr/publication/details/2ecba8fa-27bd-4777-baa6-0b06ee25f697/oai
Akademický článek
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Autor:
Patricia Blackwelder, Clemer Abad, Guney Bademci, Oscar Diaz-Horta, Filiz Basak Cengiz, Katherina Walz, Mustafa Tekin
Publikováno v:
Journal of Molecular Medicine. 96:1227-1238
RIPOR2 (previously known as FAM65B) localizes to stereocilia of auditory hair cells and causes deafness when its function is disturbed by mutations. Here, we demonstrate that during the morphogenesis of the hair cell bundle, absence of Ripor2 affects
Autor:
Ta C. Chang, Serhat Seyhan, Guney Bademci, William K. Scott, Alana L. Grajewski, Dayna Morel Swols, Saradadevi Thanikachalam, Shengru Guo, Filiz Basak Cengiz, Mohammad F. Zafeer, Elizabeth Hodapp, Mustafa Tekin
Publikováno v:
Genes, Vol 11, Iss 4, p 350 (2020)
Genes
Volume 11
Issue 4
Genes
Volume 11
Issue 4
Anterior segment dysgenesis (ASD) comprises a wide spectrum of developmental conditions affecting the cornea, iris, and lens, which may be associated with abnormalities of other organs. To identify disease-causing variants, we performed exome sequenc
Autor:
Cynthia C. Morton, Mustafa Tekin, Emine Ikbal Atli, Shengru Guo, Hakan Gurkan, Suat Fitoz, Clemer Abad, Claire J. Sineni, Selma Demir, Brett Colbert, Gozde Cosar Seyhan, Duygu Duman, Nicholas C. Gosstola, Derek M. Dykxhoorn, Serhat Seyhan, Guney Bademci, Filiz Basak Cengiz, Katherina Walz, Armagan Incesulu
Publikováno v:
J Clin Invest
Bademci, G, Abad, C, Cengiz, F B, Seyhan, S, Incesulu, A, Guo, S, Fitoz, S, Atli, E I, Gosstola, N C, Demir, S, Colbert, B M, Seyhan, G C, Sineni, C J, Duman, D, Gurkan, H, Morton, C C, Dykxhoorn, D M, Walz, K & Tekin, M 2020, ' Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development ', Journal of Clinical Investigation . https://doi.org/10.1172/JCI136951
Bademci, G, Abad, C, Cengiz, F B, Seyhan, S, Incesulu, A, Guo, S, Fitoz, S, Atli, E I, Gosstola, N C, Demir, S, Colbert, B M, Seyhan, G C, Sineni, C J, Duman, D, Gurkan, H, Morton, C C, Dykxhoorn, D M, Walz, K & Tekin, M 2020, ' Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development ', Journal of Clinical Investigation . https://doi.org/10.1172/JCI136951
Molecular mechanisms governing the development of the mammalian cochlea, the hearing organ, remain largely unknown. Through genome sequencing in 3 subjects from 2 families with nonsyndromic cochlear aplasia, we identified homozygous 221-kb and 338-kb
Autor:
Filiz Basak Cengiz, Alana L. Grajewski, Serhat Seyhan, William K. Scott, Dayna Morel Swols, Saradadevi Thanikachalam, Mustafa Tekin, Chang Tc, Guney Bademci, Elizabeth Hodapp, Zafeer Mf, Shengru Guo
Background Anterior segment dysgenesis (ASD) comprises a wide spectrum of developmental conditions affecting the cornea, iris, and lens, which may be associated with abnormalities of other organs. Mutations in over 20 genes have been shown to cause A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dda160e755e22c1e3ede793a30a3ce16
https://doi.org/10.21203/rs.2.20988/v1
https://doi.org/10.21203/rs.2.20988/v1
Akademický článek
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Akademický článek
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