Autosomal recessive nonsyndromic deafness genes: a review

著者: Duman, Duygu, Tekin, Mustafa
出版事項 2012

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

著者: Ocak, Emre, Duman, Duygu, Tekin, Mustafa
出版年 Balkan Med J (2019)

EVIDENCE FOR GENOTYPE-PHENOTYPE CORRELATION FOR OTOFMUTATIONS

著者: Yildirim-Baylan, Muzeyyen, Bademci, Guney, Duman, Duygu, Ozturkmen-Akay, Hatice, Tokgoz-Yilmaz, Suna, Tekin, Mustafa
出版事項 2014

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

著者: Yariz, Kemal O., Walsh, Tom, Akay, Hatice, Duman, Duygu, Akkaynak, Adil Cinar, King, Mary-Claire, Tekin, Mustafa
出版事項 2011

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

著者: Yariz, Kemal O., Walsh, Tom, Uzak, Asli, Spiliopoulos, Michail, Duman, Duygu, Onalan, Gogsen, King, Mary-Claire, Tekin, Mustafa
出版事項 2011

Research of genetic bases of hereditary non-syndromic hearing loss

著者: Subaşıoğlu, Aslı, Duman, Duygu, Sırmacı, Aslı, Bademci, Güney, Carkıt, Fehime, Somdaş, Mehmet Akif, Erkan, Mustafa, Tekin, Mustafa, Dündar, Munis
出版年 Turk Pediatri Ars (2017)

A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss

著者: Sineni, Claire J., Yildirim-Baylan, Muzeyyen, Guo, Shengru, Camarena, Vladimir, Wang, Gaofeng, Tokgoz-Yilmaz, Suna, Duman, Duygu, Bademci, Guney, Tekin, Mustafa
出版年 Hum Genet (2019)

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

著者: Bademci, Guney, Diaz-Horta, Oscar, Guo, Shengru, Duman, Duygu, Van Booven, Derek, Foster II, Joseph, Cengiz, Filiz Basak, Blanton, Susan, Tekin, Mustafa
出版事項 2014

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

著者: Sirmaci, Asli, Walsh, Tom, Akay, Hatice, Spiliopoulos, Michail, Şakalar, Yıldırım Bayezit, Hasanefendioğlu-Bayrak, Aylin, Duman, Duygu, Farooq, Amjad, King, Mary-Claire, Tekin, Mustafa
出版事項 2010

Variants in CIB2 cause DFNB48 and not USH1J

著者: Booth, Kevin T, Kahrizi, Kimia, Babanejad, Mojgan, Daghagh, Hossein, Bademci, Guney, Arzhangi, Sanaz, Zareabdollahi, Davood, Duman, Duygu, El-Amraoui, Aziz, Tekin, Mustafa, Najmabadi, Hossein, Azaiez, Hela, Smith, Richard J
出版年 Clin Genet (2018)

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

著者: McSherry, Megan, Masih, Katherine E., Elcioglu, Nursel H., Celik, Pelin, Balci, Ozge, Cengiz, Filiz Basak, Nunez, Daniella, Sineni, Claire J., Seyhan, Serhat, Kocaoglu, Defne, Guo, Shengru, Duman, Duygu, Bademci, Guney, Tekin, Mustafa
出版年 PLoS One (2018)

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

著者: 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
出版事項 2011

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

著者: 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
出版事項 2012

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

著者: 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
出版事項 2013

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

著者: 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
出版年 Mol Genet Genomics (2015)

Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss

著者: Li, Chong, Bademci, Guney, Subasioglu, Asli, Diaz-Horta, Oscar, Zhu, Yi, Liu, Jiaqi, Mitchell, Timothy Gavin, Abad, Clemer, Seyhan, Serhat, Duman, Duygu, Cengiz, Filiz Basak, Tokgoz-Yilmaz, Suna, Blanton, Susan H., Farooq, Amjad, Walz, Katherina, Zhai, R. Grace, Tekin, Mustafa
出版年 Proc Natl Acad Sci U S A (2019)

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

著者: 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
出版事項 2014

Novel EYA1 Variants Causing Branchio-Oto-Renal Syndrome

著者: Klingbeil, Kyle D., Greenland, Christopher M., Arslan, Selcuk, Paneque, Arianne Llamos, Gurkan, Hakan, Ulusal, Selma Demir, Maroofian, Reza, Carrera-Gonzalez, Andrea, Montufar-Armendariz, Stefany, Paredes, Rosario, Elcioglu, Nursel, Menendez, Ibis, Behnam, Mahdiyeh, Foster, Joseph, Guo, Shengru, Escarfuller, Sebastian, Cengiz, Filiz Basak, Duman, Duygu, Bademci, Guney, Tekin, Mustafa
出版年 Int J Pediatr Otorhinolaryngol (2017)

Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development

著者: Bademci, Guney, Abad, Clemer, Cengiz, Filiz B., Seyhan, Serhat, Incesulu, Armagan, Guo, Shengru, Fitoz, Suat, Atli, Emine Ikbal, Gosstola, Nicholas C., Demir, Selma, Colbert, Brett M., Seyhan, Gozde Cosar, Sineni, Claire J., Duman, Duygu, Gurkan, Hakan, Morton, Cynthia C., Dykxhoorn, Derek M., Walz, Katherina, Tekin, Mustafa
出版年 J Clin Invest (2020)

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

著者: 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
出版年 Proc Natl Acad Sci U S A (2016)