Výsledky vyhledávání

Akademický článek

Dispersed DNA variants underlie hearing loss in South Florida’s minority population

Autor: LéShon Peart, Joanna Gonzalez, Dayna Morel Swols, Duygu Duman, Turcin Saridogan, Memoona Ramzan, Mohammad Faraz Zafeer, Xue Zhong Liu, Adrien A. Eshraghi, Michael E. Hoffer, Simon I. Angeli, Guney Bademci, Susan Blanton, Carson Smith, Fred F. Telischi, Mustafa Tekin

Publikováno v: Human Genomics, Vol 17, Iss 1, Pp 1-10 (2023)

Abstract Background We analyzed the genetic causes of sensorineural hearing loss in racial and ethnic minorities of South Florida by reviewing demographic, phenotypic, and genetic data on 136 patients presenting to the Hereditary Hearing Loss Clinic

Externí odkaz: https://doaj.org/article/ce2d44a8f2df49bea02b040f0748896b

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Akademický článek

Novel GPR156 variants confirm its role in moderate sensorineural hearing loss

Autor: Memoona Ramzan, Nazim Bozan, Serhat Seyhan, Mohammad Faraz Zafeer, Aburrahman Ayral, Duygu Duman, Guney Bademci, Mustafa Tekin

Publikováno v: Scientific Reports, Vol 13, Iss 1, Pp 1-5 (2023)

Abstract Hereditary hearing loss (HL) is a genetically heterogeneous disorder affecting people worldwide. The implementation of advanced sequencing technologies has significantly contributed to the identification of novel genes involved in HL. In thi

Externí odkaz: https://doaj.org/article/c699bcbbf2c84a2a801a2adb56b2a9f2

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Akademický článek

Whole Mitochondrial Genome Analysis in Turkish Patients With Mitochondrial Diseases

Autor: Emine Begüm Gencer Öncül, Duygu Duman, Fatma Tuba Eminoğlu, Süleyman Aktuna, Mustafa Türker Duman

Publikováno v: Balkan Medical Journal, Vol 39, Iss 2, Pp 96-106 (2022)

Background: Mitochondrial diseases are a clinically heterogeneous group of rare hereditary disorders that are defined by a genetic defect predominantly affecting mitochondrial oxidative phosphorylation. Mitochondrial diseases are caused by mutations

Externí odkaz: https://doaj.org/article/0d0dd5946c564cf6b6b1b1bda3f6480b

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Akademický článek

Genetic Causes of Inner Ear Anomalies: a Review from the Turkish Study Group for Inner Ear Anomalies

Autor: Emre Ocak, Duygu Duman, Mustafa Tekin

Publikováno v: Balkan Medical Journal, Vol 36, Iss 4, Pp 206-211 (2019)

Inner ear anomalies diagnosed using a radiological study are detected in almost 30% of cases with congenital or prelingual-onset sensorineural hearing loss. Inner ear anomalies can be isolated or occur along with a part of a syndrome involving other

Externí odkaz: https://doaj.org/article/502168c46faa4192a4dc70451cb561db

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Akademický článek

Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability.

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

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Akademický článek

Correction: Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss.

Autor: Oscar Diaz-Horta, Duygu Duman, Joseph Foster, Aslı Sırmacı, Michael Gonzalez, Nejat Mahdieh, Nikou Fotouhi, Mortaza Bonyadi, Filiz Başak Cengiz, Ibis Menendez, Rick H. Ulloa, Yvonne J. K. Edwards, Stephan Züchner, Susan Blanton, Mustafa Tekin

Publikováno v: PLoS ONE, Vol 8, Iss 5 (2013)

Externí odkaz: https://doaj.org/article/128d5d95a0694c1186ea7514bac339b7

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Akademický článek

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

Autor: Oscar Diaz-Horta, Duygu Duman, Joseph Foster, Aslı Sırmacı, Michael Gonzalez, Nejat Mahdieh, Nikou Fotouhi, Mortaza Bonyadi, Filiz Başak Cengiz, Ibis Menendez, Rick H Ulloa, Yvonne J K Edwards, Stephan Züchner, Susan Blanton, Mustafa Tekin

Publikováno v: PLoS ONE, Vol 7, Iss 11, p e50628 (2012)

Identification of the pathogenic mutations underlying autosomal recessive nonsyndromic hearing loss (ARNSHL) is difficult, since causative mutations in 39 different genes have so far been reported. After excluding mutations in the most common ARNSHL

Externí odkaz: https://doaj.org/article/ce2ef432b8ae4255841a4ebc784abcdd

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