Works matching IS 03406717 AND DT 2023 AND VI 142 AND IP 1

Results: 12
    1
    2

    PMEL is mutated in oculocutaneous albinism.

    Published in:
    Human Genetics, 2023, v. 142, n. 1, p. 139, doi. 10.1007/s00439-022-02489-y
    By:
    • AlAbdi, Lama;
    • Alshammari, Muneera;
    • Helaby, Rana;
    • Khan, Arif O.;
    • Alkuraya, Fowzan S.
    Publication type:
    Article
    3

    Truncation mutations in MYRF underlie primary angle closure glaucoma.

    Published in:
    Human Genetics, 2023, v. 142, n. 1, p. 103, doi. 10.1007/s00439-022-02487-0
    By:
    • Ouyang, Jiamin;
    • Sun, Wenmin;
    • Shen, Huangxuan;
    • Liu, Xing;
    • Wu, Yingchen;
    • Jiang, Hongmei;
    • Li, Xueqing;
    • Wang, Yingwei;
    • Jiang, Yi;
    • Li, Shiqiang;
    • Xiao, Xueshan;
    • Hejtmancik, J. Fielding;
    • Tan, Zhiqun;
    • Zhang, Qingjiong
    Publication type:
    Article
    4

    RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy.

    Published in:
    Human Genetics, 2023, v. 142, n. 1, p. 59, doi. 10.1007/s00439-022-02485-2
    By:
    • Okubo, Mariko;
    • Noguchi, Satoru;
    • Awaya, Tomonari;
    • Hosokawa, Motoyasu;
    • Tsukui, Nobue;
    • Ogawa, Megumu;
    • Hayashi, Shinichiro;
    • Komaki, Hirofumi;
    • Mori-Yoshimura, Madoka;
    • Oya, Yasushi;
    • Takahashi, Yuji;
    • Fukuyama, Tetsuhiro;
    • Funato, Michinori;
    • Hosokawa, Yousuke;
    • Kinoshita, Satoru;
    • Matsumura, Tsuyoshi;
    • Nakamura, Sadao;
    • Oshiro, Azusa;
    • Terashima, Hiroshi;
    • Nagasawa, Tetsuro
    Publication type:
    Article
    5
    6

    Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes–Brocks syndrome 2.

    Published in:
    Human Genetics, 2023, v. 142, n. 1, p. 73, doi. 10.1007/s00439-022-02481-6
    By:
    • Christians, Anne;
    • Kesdiren, Esra;
    • Hennies, Imke;
    • Hofmann, Alejandro;
    • Trowe, Mark-Oliver;
    • Brand, Frank;
    • Martens, Helge;
    • Gjerstad, Ann Christin;
    • Gucev, Zoran;
    • Zirngibl, Matthias;
    • Geffers, Robert;
    • Seeman, Tomáš;
    • Billing, Heiko;
    • Bjerre, Anna;
    • Tasic, Velibor;
    • Kispert, Andreas;
    • Ure, Benno;
    • Haffner, Dieter;
    • Dingemann, Jens;
    • Weber, Ruthild G.
    Publication type:
    Article
    7
    8
    9

    De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.

    Published in:
    Human Genetics, 2023, v. 142, n. 1, p. 21, doi. 10.1007/s00439-022-02477-2
    By:
    • Timberlake, Andrew T.;
    • Kiziltug, Emre;
    • Jin, Sheng Chih;
    • Nelson-Williams, Carol;
    • Loring, Erin;
    • Allocco, August;
    • Marlier, Arnaud;
    • Banka, Siddharth;
    • Stuart, Helen;
    • Passos-Buenos, Maria Rita;
    • Rosa, Rafael;
    • Rogatto, Silvia R.;
    • Tonne, Elin;
    • Stiegler, Amy L.;
    • Boggon, Titus J.;
    • Alperovich, Michael;
    • Steinbacher, Derek;
    • Staffenberg, David A.;
    • Flores, Roberto L.;
    • Persing, John A.
    Publication type:
    Article
    10

    Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1.

    Published in:
    Human Genetics, 2023, v. 142, n. 1, p. 1, doi. 10.1007/s00439-022-02476-3
    By:
    • Pacot, Laurence;
    • Pelletier, Valerie;
    • Chansavang, Albain;
    • Briand-Suleau, Audrey;
    • Burin des Roziers, Cyril;
    • Coustier, Audrey;
    • Maillard, Theodora;
    • Vaucouleur, Nicolas;
    • Orhant, Lucie;
    • Barbance, Cécile;
    • Lermine, Alban;
    • Hamzaoui, Nadim;
    • Hadjadj, Djihad;
    • Laurendeau, Ingrid;
    • El Khattabi, Laïla;
    • Nectoux, Juliette;
    • Vidaud, Michel;
    • Parfait, Béatrice;
    • Dollfus, Hélène;
    • Pasmant, Eric
    Publication type:
    Article
    11

    Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.

    Published in:
    Human Genetics, 2023, v. 142, n. 1, p. 125, doi. 10.1007/s00439-022-02473-6
    By:
    • Vezain, Myriam;
    • Thauvin-Robinet, Christel;
    • Vial, Yoann;
    • Coutant, Sophie;
    • Drunat, Séverine;
    • Urtizberea, Jon Andoni;
    • Rolland, Anne;
    • Jacquin-Piques, Agnès;
    • Fehrenbach, Séverine;
    • Nicolas, Gaël;
    • Lecoquierre, François;
    • Saugier-Veber, Pascale
    Publication type:
    Article
    12