Works by Morimoto, Marie

Results: 12
    1

    Expression profile of NSDHL in human peripheral tissues.

    Published in:
    Journal of Molecular Histology, 2012, v. 43, n. 1, p. 95, doi. 10.1007/s10735-011-9375-x
    By:
    • Morimoto, Marie;
    • du Souich, Christèle;
    • Trinh, Joanne;
    • McLarren, Keith;
    • Boerkoel, Cornelius;
    • Hendson, Glenda
    Publication type:
    Article
    2
    3

    cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.

    Published in:
    Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1072784
    By:
    • Kuptanon, Chulaluk;
    • Morimoto, Marie;
    • Nicoli, Elena-Raluca;
    • Stephen, Joshi;
    • Yarnell, David S.;
    • Dorward, Heidi;
    • Owen, William;
    • Parikh, Suhag;
    • Ozbek, Namik Yasar;
    • Malbora, Baris;
    • Ciccone, Carla;
    • Gunay-Aygun, Meral;
    • Gahl, William A.;
    • Introne, Wendy J.;
    • Malicdan, May Christine V.
    Publication type:
    Article
    4
    5

    Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immunoosseous dysplasia?

    Published in:
    Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0519-7
    By:
    • Morimoto, Marie;
    • Myung, Clara;
    • Beirnes, Kimberly;
    • Kunho Choi;
    • Yumi Asakura;
    • Bokenkamp, Arend;
    • Bonneau, Dominique;
    • Brugnara, Milena;
    • Charrow, Joel;
    • Colin, Estelle;
    • Davis, Amira;
    • Deschenes, Georges;
    • Gentile, Mattia;
    • Giordano, Mario;
    • Gormley, Andrew K.;
    • Govender, Rajeshree;
    • Joseph, Mark;
    • Keller, Kory;
    • Lerut, Evelyne;
    • Levtchenko, Elena
    Publication type:
    Article
    6

    Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.

    Published in:
    2016
    By:
    • Maduro, Valerie;
    • Pusey, Barbara N.;
    • Cherukuri, Praveen F.;
    • Atkins, Paul;
    • du Souich, Christèle;
    • Rupps, Rosemarie;
    • Limbos, Marjolaine;
    • Adams, David R.;
    • Bhatt, Samarth S.;
    • Eydoux, Patrice;
    • Links, Amanda E.;
    • Lehman, Anna;
    • Malicdan, May C.;
    • Mason, Christopher E.;
    • Morimoto, Marie;
    • Mullikin, James C.;
    • Sear, Andrew;
    • Van Karnebeek, Clara;
    • Stankiewicz, Pawel;
    • Gahl, William A.
    Publication type:
    journal article
    7

    Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

    Published in:
    Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 70, doi. 10.1186/1750-1172-7-70
    By:
    • Morimoto, Marie;
    • Zhongxin Yu;
    • Stenzel, Peter;
    • Clewing, J. Marietta;
    • Najafian, Behzad;
    • Mayfield, Christy;
    • Hendson, Glenda;
    • Weinkauf, Justin G.;
    • Gormley, Andrew K.;
    • Parham, David M.;
    • Ponniah, Umakumaran;
    • Andr‚, Jean-Luc;
    • Yumi Asakura;
    • Basiratnia, Mitra;
    • Bogdanovic, Radovan;
    • Bokenkamp, Arend;
    • Bonneau, Dominique;
    • Buck, Anna;
    • Charrow, Joel;
    • Cochat, Pierre
    Publication type:
    Article
    8

    Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.

    Published in:
    NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-022-00343-8
    By:
    • Morimoto, Marie;
    • Bhambhani, Vikas;
    • Gazzaz, Nour;
    • Davids, Mariska;
    • Sathiyaseelan, Paalini;
    • Macnamara, Ellen F.;
    • Lange, Jennifer;
    • Lehman, Anna;
    • Zerfas, Patricia M.;
    • Murphy, Jennifer L.;
    • Acosta, Maria T.;
    • Wang, Camille;
    • Alderman, Emily;
    • Undiagnosed Diseases Network;
    • Adam, Margaret;
    • Alvarez, Raquel L.;
    • Alvey, Justin;
    • Amendola, Laura;
    • Andrews, Ashley;
    • Ashley, Euan A.
    Publication type:
    Article
    9
    10

    Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02462-8
    By:
    • Chong Li;
    • Brazill, Jennifer M.;
    • Sha Liu;
    • Bello, Christofer;
    • Yi Zhu;
    • Morimoto, Marie;
    • Cascio, Lauren;
    • Pauly, Rini;
    • Diaz-Perez, Zoraida;
    • Malicdan, May Christine V.;
    • Hongbo Wang;
    • Boccuto, Luigi;
    • Schwartz, Charles E.;
    • Gahl, William A.;
    • Boerkoel, Cornelius F.;
    • Zhai, R. Grace
    Publication type:
    Article
    11
    12

    Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 11, p. 2572, doi. 10.1093/hmg/dds083
    By:
    • Baradaran-Heravi, Alireza;
    • Cho, Kyoung Sang;
    • Tolhuis, Bas;
    • Sanyal, Mrinmoy;
    • Morozova, Olena;
    • Morimoto, Marie;
    • Elizondo, Leah I.;
    • Bridgewater, Darren;
    • Lubieniecka, Joanna;
    • Beirnes, Kimberly;
    • Myung, Clara;
    • Leung, Danny;
    • Fam, Hok Khim;
    • Choi, Kunho;
    • Huang, Yan;
    • Dionis, Kira Y.;
    • Zonana, Jonathan;
    • Keller, Kory;
    • Stenzel, Peter;
    • Mayfield, Christy
    Publication type:
    Article