Works matching IS 15524825 AND DT 2021 AND VI 185 AND IP 10

Results: 48
    1

    Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3028, doi. 10.1002/ajmg.a.62439
    By:
    • Pitsava, Georgia;
    • Feldkamp, Marcia L.;
    • Pankratz, Nathan;
    • Lane, John;
    • Kay, Denise M.;
    • Conway, Kristin M.;
    • Shaw, Gary M.;
    • Reefhuis, Jennita;
    • Jenkins, Mary M.;
    • Almli, Lynn M.;
    • Olshan, Andrew F.;
    • Pangilinan, Faith;
    • Brody, Lawrence C.;
    • Sicko, Robert J.;
    • Hobbs, Charlotte A.;
    • Bamshad, Mike;
    • McGoldrick, Daniel;
    • Nickerson, Deborah A.;
    • Finnell, Richard H.;
    • Mullikin, James
    Publication type:
    Article
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    Broadening the phenotypic spectrum of Beta3GalT6‐associated phenotypes.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3153, doi. 10.1002/ajmg.a.62399
    By:
    • Leoni, Chiara;
    • Tedesco, Marta;
    • Radio, Francesca Clementina;
    • Chillemi, Giovanni;
    • Leone, Antonio;
    • Bruselles, Alessandro;
    • Ciolfi, Andrea;
    • Stellacci, Emilia;
    • Pantaleoni, Francesca;
    • Butera, Gianfranco;
    • Rigante, Donato;
    • Onesimo, Roberta;
    • Tartaglia, Marco;
    • Zampino, Giuseppe
    Publication type:
    Article
    6

    Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3005, doi. 10.1002/ajmg.a.62398
    By:
    • Lemire, Gabrielle;
    • Zheng, Bixia;
    • Ediae, Grace U.;
    • Zou, Ruobing;
    • Bhola, Priya T.;
    • Chisholm, Caitlin;
    • de Nanassy, Joseph;
    • Lo, Bryan;
    • Wang, Chunyan;
    • Shril, Shirlee;
    • El Desoky, Sherif;
    • Shalaby, Mohammed;
    • Kari, Jameela A.;
    • Wang, Xueqi;
    • Kernohan, Kristin D.;
    • Boycott, Kym M.;
    • Hildebrandt, Friedhelm;
    • Sawyer, Sarah L.
    Publication type:
    Article
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    Further heterogeneity in Silver–Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3136, doi. 10.1002/ajmg.a.62391
    By:
    • Brereton, Rebecca E.;
    • Nickerson, Sarah L.;
    • Woodward, Karen J.;
    • Edwards, Tracey;
    • Sivamoorthy, Soruba;
    • Ramos Vasques Walters, Fabiana;
    • Chabros, Vicki;
    • Marchin, Vanessa;
    • Grumball, Tanya;
    • Kennedy, Dagmara;
    • Uzaraga, Joan;
    • Peverall, Joanne;
    • Arscott, Gillian;
    • Beilby, John;
    • Choong, Catherine S.;
    • Townshend, Sharron;
    • Azmanov, Dimitar N.
    Publication type:
    Article
    13

    Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3129, doi. 10.1002/ajmg.a.62389
    By:
    • Walker, Susan;
    • Lamoureux, Sylvia;
    • Khan, Tayyaba;
    • Joynt, Alyssa C. M.;
    • Bradley, Melissa;
    • Branson, Helen M.;
    • Carter, Melissa T.;
    • Hayeems, Robin Z.;
    • Jagiello, Lukasz;
    • Marshall, Christian R.;
    • Meyn, M. Stephen;
    • Miller, Steven P.;
    • Wilson, Diane;
    • Scherer, Stephen W.;
    • Blaser, Susan;
    • Mireskandari, Kamiar;
    • Costain, Gregory
    Publication type:
    Article
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    Expansion of the clinical phenotype of GALE deficiency.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3118, doi. 10.1002/ajmg.a.62384
    By:
    • Markovitz, Rebecca;
    • Owen, Nichole;
    • Satter, Lisa Forbes;
    • Kirk, Susan;
    • Mahoney, Donald H.;
    • Bertuch, Alison A.;
    • Scaglia, Fernando
    Publication type:
    Article
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    Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2929, doi. 10.1002/ajmg.a.62375
    By:
    • dos Santos‐Lopes, Simone Silva;
    • de Oliveira, Jessica Maria Florêncio;
    • de Queiroga Nascimento, Denise;
    • Montenegro, Yorran Hardman Araújo;
    • Leistner‐Segal, Sandra;
    • Brusius‐Facchin, Ana Carolina;
    • Eufrazino Gondim, Cátia;
    • Giugliani, Roberto;
    • de Medeiros, Paula Frassinetti Vasconcelos
    Publication type:
    Article
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    Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2941, doi. 10.1002/ajmg.a.62377
    By:
    • Stutterd, Chloe A.;
    • Kidd, Alexa;
    • Florkowski, Chris;
    • Janus, Edward;
    • Fanjul, Miriam;
    • Raizis, Anthony;
    • Wu, Teddy Y.;
    • Archer, John;
    • Leventer, Richard J.;
    • Amor, David J.;
    • Lukic, Vesna;
    • Bahlo, Melanie;
    • Gow, Paul;
    • Lockhart, Paul J.;
    • van der Knaap, Marjo S.;
    • Delatycki, Martin B.
    Publication type:
    Article
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    HECW2‐related disorder in four Japanese patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2895, doi. 10.1002/ajmg.a.62363
    By:
    • Yanagishita, Tomoe;
    • Hirade, Takuya;
    • Shimojima Yamamoto, Keiko;
    • Funatsuka, Makoto;
    • Miyamoto, Yusaku;
    • Maeda, Makiko;
    • Yanagi, Kumiko;
    • Kaname, Tadashi;
    • Nagata, Satoru;
    • Nagata, Miho;
    • Ishihara, Yasuki;
    • Miyashita, Yohei;
    • Asano, Yoshihiro;
    • Sakata, Yasushi;
    • Kosaki, Kenjiro;
    • Yamamoto, Toshiyuki
    Publication type:
    Article
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    Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3057, doi. 10.1002/ajmg.a.62361
    By:
    • Blanluet, Maud;
    • Chantot‐Bastaraud, Sandra;
    • Chambon, Pascal;
    • Cassinari, Kévin;
    • Vera, Gabriella;
    • Goldenberg, Alice;
    • Keren, Boris;
    • Le Meur, Nathalie;
    • Hannequin, Didier;
    • Mace, Bertrand;
    • Siffroi, Jean‐Pierre;
    • Frebourg, Thierry;
    • Nicolas, Gaël;
    • Joly‐Helas, Géraldine
    Publication type:
    Article
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    Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2863, doi. 10.1002/ajmg.a.62359
    By:
    • Burns, William;
    • Bird, Lynne M.;
    • Heron, Delphine;
    • Keren, Boris;
    • Ramachandra, Divya;
    • Thiffault, Isabelle;
    • Del Viso, Florencia;
    • Amudhavalli, Shivarajan;
    • Engleman, Kendra;
    • Parenti, Ilaria;
    • Kaiser, Frank J.;
    • Wierzba, Jolanta;
    • Riedhammer, Korbinian M.;
    • Liptay, Susanne;
    • Zadeh, Neda;
    • Porrmann, Joseph;
    • Fischer, Andrea;
    • Gößwein, Sophie;
    • McLaughlin, Heather M.;
    • Telegrafi, Aida
    Publication type:
    Article
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    Juvenile xanthogranuloma in Noonan syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3048, doi. 10.1002/ajmg.a.62353
    By:
    • Ali, Marwan M.;
    • Gilliam, Amy E.;
    • Ruben, Beth S.;
    • Tidyman, William E.;
    • Rauen, Katherine A.
    Publication type:
    Article
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2859, doi. 10.1002/ajmg.a.61701
    Publication type:
    Article
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    Publication schedule for 2021.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2855, doi. 10.1002/ajmg.a.61698
    Publication type:
    Article
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