Autosomal recessive nonsyndromic deafness genes: a review

Por Duman, Duygu, Tekin, Mustafa
Publicado em 2012

EVIDENCE FOR GENOTYPE-PHENOTYPE CORRELATION FOR OTOFMUTATIONS

Por Yildirim-Baylan, Muzeyyen, Bademci, Guney, Duman, Duygu, Ozturkmen-Akay, Hatice, Tokgoz-Yilmaz, Suna, Tekin, Mustafa
Publicado em 2014

A truncating mutation in GPSM2 is associated with recessive nonsyndromic hearing loss

Por Yariz, Kemal O., Walsh, Tom, Akay, Hatice, Duman, Duygu, Akkaynak, Adil Cinar, King, Mary-Claire, Tekin, Mustafa
Publicado em 2011

Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome

Por Yariz, Kemal O., Walsh, Tom, Uzak, Asli, Spiliopoulos, Michail, Duman, Duygu, Onalan, Gogsen, King, Mary-Claire, Tekin, Mustafa
Publicado em 2011

Identification of Copy Number Variants Through Whole-Exome Sequencing in Autosomal Recessive Nonsyndromic Hearing Loss

Por Bademci, Guney, Diaz-Horta, Oscar, Guo, Shengru, Duman, Duygu, Van Booven, Derek, Foster II, Joseph, Cengiz, Filiz Basak, Blanton, Susan, Tekin, Mustafa
Publicado em 2014

MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes

Por Sirmaci, Asli, Walsh, Tom, Akay, Hatice, Spiliopoulos, Michail, Şakalar, Yıldırım Bayezit, Hasanefendioğlu-Bayrak, Aylin, Duman, Duygu, Farooq, Amjad, King, Mary-Claire, Tekin, Mustafa
Publicado em 2010

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

Por Sirmaci, Asli, Spiliopoulos, Michail, Brancati, Francesco, Powell, Eric, Duman, Duygu, Abrams, Alex, Bademci, Guney, Agolini, Emanuele, Guo, Shengru, Konuk, Berrin, Kavaz, Asli, Blanton, Susan, Digilio, Maria Christina, Dallapiccola, Bruno, Young, Juan, Zuchner, Stephan, Tekin, Mustafa
Publicado em 2011

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

Por Diaz-Horta, Oscar, Duman, Duygu, Foster, Joseph, Sırmacı, Aslı, Gonzalez, Michael, Mahdieh, Nejat, Fotouhi, Nikou, Bonyadi, Mortaza, Cengiz, Filiz Başak, Menendez, Ibis, Ulloa, Rick H., Edwards, Yvonne J. K., Züchner, Stephan, Blanton, Susan, Tekin, Mustafa
Publicado em 2012

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

Por Diaz-Horta, Oscar, Duman, Duygu, Foster, Joseph, Sırmacı, Aslı, Gonzalez, Michael, Mahdieh, Nejat, Fotouhi, Nikou, Bonyadi, Mortaza, Cengiz, Filiz Başak, Menendez, Ibis, Ulloa, Rick H., Edwards, Yvonne J. K., Züchner, Stephan, Blanton, Susan, Tekin, Mustafa
Publicado em 2013

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53

Por Chakchouk, Imen, Grati, M’hamed, Bademci, Guney, Bensaid, Mariem, Ma, Qi, Chakroun, Amine, Foster, Joseph, Yan, Denise, Duman, Duygu, Diaz-Horta, Oscar, Ghorbel, Abdelmonem, Mittal, Rahul, Farooq, Amjad, Tekin, Mustafa, Masmoudi, Saber, Liu, Xue Zhong
Publicado no Mol Genet Genomics (2015)

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing

Por Diaz-Horta, Oscar, Subasioglu-Uzak, Asli, Grati, M’hamed, DeSmidt, Alexandra, Foster, Joseph, Cao, Lei, Bademci, Guney, Tokgoz-Yilmaz, Suna, Duman, Duygu, Cengiz, F. Basak, Abad, Clemer, Mittal, Rahul, Blanton, Susan, Liu, Xue Z., Farooq, Amjad, Walz, Katherina, Lu, Zhongmin, Tekin, Mustafa
Publicado em 2014

ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice

Por Diaz-Horta, Oscar, Abad, Clemer, Sennaroglu, Levent, Foster, Joseph, DeSmidt, Alexandra, Bademci, Guney, Tokgoz-Yilmaz, Suna, Duman, Duygu, Cengiz, F. Basak, Grati, M’hamed, Fitoz, Suat, Liu, Xue Z., Farooq, Amjad, Imtiaz, Faiqa, Currall, Benjamin B., Morton, Cynthia Casson, Nishita, Michiru, Minami, Yasuhiro, Lu, Zhongmin, Walz, Katherina, Tekin, Mustafa
Publicado no Proc Natl Acad Sci U S A (2016)

A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss

Por Sırmacı, Aslı, Erbek, Seyra, Price, Justin, Huang, Mingqian, Duman, Duygu, Cengiz, F. Başak, Bademci, Güney, Tokgöz-Yılmaz, Suna, Hişmi, Burcu, Özdağ, Hilal, Öztürk, Banu, Kulaksızoğlu, Sevsen, Yıldırım, Erkan, Kokotas, Haris, Grigoriadou, Maria, Petersen, Michael B., Shahin, Hashem, Kanaan, Moien, King, Mary-Claire, Chen, Zheng-Yi, Blanton, Susan H., Liu, Xue Z., Zuchner, Stephan, Akar, Nejat, Tekin, Mustafa
Publicado em 2010

SLITRK6 mutations cause myopia and deafness in humans and mice

Por Tekin, Mustafa, Chioza, Barry A., Matsumoto, Yoshifumi, Diaz-Horta, Oscar, Cross, Harold E., Duman, Duygu, Kokotas, Haris, Moore-Barton, Heather L., Sakoori, Kazuto, Ota, Maya, Odaka, Yuri S., Foster, Joseph, Cengiz, F. Basak, Tokgoz-Yilmaz, Suna, Tekeli, Oya, Grigoriadou, Maria, Petersen, Michael B., Sreekantan-Nair, Ajith, Gurtz, Kay, Xia, Xia-Juan, Pandya, Arti, Patton, Michael A., Young, Juan I., Aruga, Jun, Crosby, Andrew H.
Publicado em 2013

Mutations in OTOGL, Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss

Por Yariz, Kemal O., Duman, Duygu, Seco, Celia Zazo, Dallman, Julia, Huang, Mingqian, Peters, Theo A., Sirmaci, Asli, Lu, Na, Schraders, Margit, Skromne, Isaac, Oostrik, Jaap, Diaz-Horta, Oscar, Young, Juan I., Tokgoz-Yilmaz, Suna, Konukseven, Ozlem, Shahin, Hashem, Hetterschijt, Lisette, Kanaan, Moien, Oonk, Anne M.M., Edwards, Yvonne J.K., Li, Huawei, Atalay, Semra, Blanton, Susan, DeSmidt, Alexandra A., Liu, Xue-Zhong, Pennings, Ronald J.E., Lu, Zhongmin, Chen, Zheng-Yi, Kremer, Hannie, Tekin, Mustafa
Publicado em 2012

Comprehensive Analysis via Exome Sequencing Uncovers Genetic Etiology in Autosomal Recessive Non-Syndromic Deafness in a Large Multiethnic Cohort

Por Bademci, Guney, Foster, Joseph, Mahdieh, Nejat, Bonyadi, Mortaza, Duman, Duygu, Cengiz, F.Basak, Menendez, Ibis, Horta, Oscar Diaz, Shirkavand, Atefeh, Zeinali, Sirous, Subasioglu, Asli, Tokgoz-Yilmaz, Suna, Hernandez, Fabiola Huesca, de la Luz Arenas Sordo, Maria, Dominguez-Aburto, Juan, Hernandez-Zamora, Edgar, Montenegro, Paola, Paredes, Rosario, Moreta, Germania, Vinueza, Rodrigo, Villegas, Franklin, Mendoza Benitez, Santiago, Guo, Shengru, Bozan, Nazim, Tos, Tulay, Incesulu, Armagan, Sennaroglu, Gonca, Blanton, Susan H., Ozturkmen Akay, Hatice, Yildirim-Baylan, Muzeyyen, Tekin, Mustafa
Publicado no Genet Med (2015)