Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: Hearing Loss and MPZL2[original query] |
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MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss. Human genetics 2018 7 137 (6-7): 479-486. Bademci Guney, Abad Clemer, Incesulu Armagan, Rad Abolfazl, Alper Ozgul, Kolb Susanne M, Cengiz Filiz B, Diaz-Horta Oscar, Silan Fatma, Mihci Ercan, Ocak Emre, Najafi Maryam, Maroofian Reza, Yilmaz Elanur, Nur Banu G, Duman Duygu, Guo Shengru, Sant David W, Wang Gaofeng, Monje Paula V, Haaf Thomas, Blanton Susan H, Vona Barbara, Walz Katherina, Tekin Musta |
Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Mar . Kim Bong Jik, Oh Doo-Yi, Han Jin Hee, Oh Jayoung, Kim Min Young, Park Hye-Rim, Seok Jungirl, Cho Sung-Dong, Lee Sang-Yeon, Kim Yoonjoong, Carandang Marge, Kwon In Sun, Lee Seungmin, Jang Jeong Hun, Choung Yun-Hoon, Lee Sejoon, Lee Hakmin, Hwang Sang Mee, Choi Byung Yo |
A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family. International journal of pediatric otorhinolaryngology 2020 11 140 110481. Amalou Ghita, Bonnet Crystel, Riahi Zied, Bouzidi Aymane, Elrharchi Soukaina, Bousfiha Amale, Charif Majida, Kandil Mostafa, Lenaers Guy, Petit Christine, Barakat Abdelham |
MPZL2 variant analysis with whole exome sequencing in a cohort of Chinese hearing loss patients. International journal of pediatric otorhinolaryngology 2023 6 171 111635. Weitao Li, Luo Guo, Bing Chen, Yilai Shu, Huawei |
MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population. BMC medical genomics 2024 1 17 (1): 32. Lang Zhang, Jin-Yuan Yang, Qiu-Quan Wang, Xue Gao, Guo-Jian Wang, Ming-Yu Han, Dong-Yang Kang, Dong-Yi Han, Sha-Sha Huang, Yong-Yi Yu |
Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111. American journal of medical genetics. Part A 2024 1 . Emma Lo, Justin Blair, Nobuko Yamamoto, Maria Alejandra Diaz-Miranda, Emma Bedoukian, Christopher Gray, Audrey Lawrence, Kavita Dedhia, Lisa M Elden, John A Germiller, Ken Kazahaya, Steven E Sobol, Minjie Luo, Ian D Krantz, Tiffiney R Hartm |
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