Works matching IS 03406717 AND DT 2022 AND VI 141 AND IP 3/4

Results: 52
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    Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.

    Published in:
    Human Genetics, 2022, v. 141, n. 3/4, p. 431, doi. 10.1007/s00439-022-02444-x
    By:
    • Pater, Justin A.;
    • Penney, Cindy;
    • O'Rielly, Darren D.;
    • Griffin, Anne;
    • Kamal, Lara;
    • Brownstein, Zippora;
    • Vona, Barbara;
    • Vinkler, Chana;
    • Shohat, Mordechai;
    • Barel, Ortal;
    • French, Curtis R.;
    • Singh, Sushma;
    • Werdyani, Salem;
    • Burt, Taylor;
    • Abdelfatah, Nelly;
    • Houston, Jim;
    • Doucette, Lance P.;
    • Squires, Jessica;
    • Glaser, Fabian;
    • Roslin, Nicole M.
    Publication type:
    Article
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    Genetic etiology of hearing loss in Iran.

    Published in:
    Human Genetics, 2022, v. 141, n. 3/4, p. 623, doi. 10.1007/s00439-021-02421-w
    By:
    • Babanejad, Mojgan;
    • Beheshtian, Maryam;
    • Jamshidi, Fereshteh;
    • Mohseni, Marzieh;
    • Booth, Kevin T.;
    • Kahrizi, Kimia;
    • Najmabadi, Hossein
    Publication type:
    Article
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    A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia.

    Published in:
    Human Genetics, 2022, v. 141, n. 3/4, p. 697, doi. 10.1007/s00439-021-02405-w
    By:
    • Solovyev, Aisen V.;
    • Kushniarevich, Alena;
    • Bliznetz, Elena;
    • Bady-Khoo, Marita;
    • Lalayants, Maria R.;
    • Markova, Tatiana G.;
    • Minárik, Gabriel;
    • Kádasi, L'udevít;
    • Metspalu, Ene;
    • Pshennikova, Vera G.;
    • Teryutin, Fedor M.;
    • Khusnutdinova, Elza K.;
    • Poliakov, Alexander;
    • Metspalu, Mait;
    • Posukh, Olga L.;
    • Barashkov, Nikolay A.;
    • Fedorova, Sardana A.
    Publication type:
    Article
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    Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.

    Published in:
    2022
    By:
    • Smits, Jeroen J.;
    • de Bruijn, Suzanne E.;
    • Lanting, Cornelis P.;
    • Oostrik, Jaap;
    • O'Gorman, Luke;
    • Mantere, Tuomo;
    • DOOFNL Consortium;
    • van Dooren, M. F.;
    • Kant, S. G.;
    • de Gier, H. H. W.;
    • Hoefsloot, E. H.;
    • van der Schroeff, M. P.;
    • Rotteveel, L. J. C.;
    • Ropers, F. G.;
    • Widdershoven, J. C. C.;
    • Hof, J. R.;
    • Vanhoutte, E. K.;
    • Feenstra, I.;
    • Kremer, H.;
    • Lanting, C. P.
    Publication type:
    Correction Notice
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    Hearing loss in Africa: current genetic profile.

    Published in:
    Human Genetics, 2022, v. 141, n. 3/4, p. 505, doi. 10.1007/s00439-021-02376-y
    By:
    • Adadey, Samuel Mawuli;
    • Wonkam-Tingang, Edmond;
    • Aboagye, Elvis Twumasi;
    • Quaye, Osbourne;
    • Awandare, Gordon A.;
    • Wonkam, Ambroise
    Publication type:
    Article
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    Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss.

    Published in:
    Human Genetics, 2022, v. 141, n. 3/4, p. 519, doi. 10.1007/s00439-021-02372-2
    By:
    • Batissoco, Ana Carla;
    • Pedroso-Campos, Vinicius;
    • Pardono, Eliete;
    • Sampaio-Silva, Juliana;
    • Sonoda, Cindy Yukimi;
    • Vieira-Silva, Gleiciele Alice;
    • da Silva de Oliveira Longati, Estefany Uchoa;
    • Mariano, Diego;
    • Hoshino, Ana Cristina Hiromi;
    • Tsuji, Robinson Koji;
    • Jesus-Santos, Rafaela;
    • Abath-Neto, Osório;
    • Bento, Ricardo Ferreira;
    • Oiticica, Jeanne;
    • Lezirovitz, Karina
    Publication type:
    Article
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    A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene.

    Published in:
    Human Genetics, 2022, v. 141, n. 3/4, p. 965, doi. 10.1007/s00439-021-02381-1
    By:
    • Abdelfatah, Nelly;
    • Mostafa, Ahmed A.;
    • French, Curtis R.;
    • Doucette, Lance P.;
    • Penney, Cindy;
    • Lucas, Matthew B.;
    • Griffin, Anne;
    • Booth, Valerie;
    • Rowley, Christopher;
    • Besaw, Jessica E.;
    • Tranebjærg, Lisbeth;
    • Rendtorff, Nanna Dahl;
    • Hodgkinson, Kathy A.;
    • Little, Leichelle A.;
    • Agrawal, Sumit;
    • Parnes, Lorne;
    • Batten, Tony;
    • Moore, Susan;
    • Hu, Pingzhao;
    • Pater, Justin A.
    Publication type:
    Article
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    The noncoding genome and hearing loss.

    Published in:
    Human Genetics, 2022, v. 141, n. 3/4, p. 323, doi. 10.1007/s00439-021-02359-z
    By:
    • Avraham, Karen B.;
    • Khalaily, Lama;
    • Noy, Yael;
    • Kamal, Lara;
    • Koffler-Brill, Tal;
    • Taiber, Shahar
    Publication type:
    Article
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    Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.

    Published in:
    Human Genetics, 2022, v. 141, n. 3/4, p. 465, doi. 10.1007/s00439-021-02336-6
    By:
    • Smits, Jeroen J.;
    • de Bruijn, Suzanne E.;
    • Lanting, Cornelis P.;
    • Oostrik, Jaap;
    • O'Gorman, Luke;
    • Mantere, Tuomo;
    • DOOFNL Consortium;
    • van Dooren, M. F.;
    • Kant, S. G.;
    • de Gier, H. H. W.;
    • Hoefsloot, E. H.;
    • van der Schroeff, M. P.;
    • Rotteveel, L. J. C.;
    • Ropers, F. G.;
    • Widdershoven, J. C. C.;
    • Hof, J. R.;
    • Vanhoutte, E. K.;
    • Feenstra, I.;
    • Kremer, H.;
    • Lanting, C. P.
    Publication type:
    Article
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    Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan.

    Published in:
    Human Genetics, 2022, v. 141, n. 3/4, p. 865, doi. 10.1007/s00439-021-02351-7
    By:
    • Iwasa, Yoh-ichiro;
    • Nishio, Shin-ya;
    • Yoshimura, Hidekane;
    • Sugaya, Akiko;
    • Kataoka, Yuko;
    • Maeda, Yukihide;
    • Kanda, Yukihiko;
    • Nagai, Kyoko;
    • Naito, Yasushi;
    • Yamazaki, Hiroshi;
    • Ikezono, Tetsuo;
    • Matsuda, Han;
    • Nakai, Masako;
    • Tona, Risa;
    • Sakurai, Yuika;
    • Motegi, Remi;
    • Takeda, Hidehiko;
    • Kobayashi, Marina;
    • Kihara, Chiharu;
    • Ishino, Takashi
    Publication type:
    Article
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