Works matching IS 15524825 AND DT 2020 AND VI 182 AND IP 5

Results: 44
    1

    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 952, doi. 10.1002/ajmg.a.61564
    Publication type:
    Article
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    GARS‐related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1167, doi. 10.1002/ajmg.a.61544
    By:
    • Markovitz, Rebecca;
    • Ghosh, Rajarshi;
    • Kuo, Molly E.;
    • Hong, William;
    • Lim, Jaehyung;
    • Bernes, Saunder;
    • Manberg, Stephanie;
    • Crosby, Kathleen;
    • Tanpaiboon, Pranoot;
    • Bharucha‐Goebel, Diana;
    • Bonnemann, Carsten;
    • Mohila, Carrie A.;
    • Mizerik, Elizabeth;
    • Woodbury, Suzanne;
    • Bi, Weimin;
    • Lotze, Timothy;
    • Antonellis, Anthony;
    • Xiao, Rui;
    • Potocki, Lorraine
    Publication type:
    Article
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    A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1278, doi. 10.1002/ajmg.a.61542
    By:
    • Burke, Elizabeth A.;
    • Reichard, Kyle E.;
    • Wolfe, Lynne A.;
    • Brooks, Brian P.;
    • DiGiovanna, John J.;
    • Hadley, Donald W.;
    • Lehky, Tanya J.;
    • Gropman, Andrea L.;
    • Tifft, Cynthia J.;
    • Gahl, William A.;
    • Toro, Camilo;
    • Adams, David
    Publication type:
    Article
    10

    Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1‐related syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1273, doi. 10.1002/ajmg.a.61541
    By:
    • Arts, Peer;
    • Garland, Jessica;
    • Byrne, Alicia B.;
    • Hardy, Tristan S.E.;
    • Babic, Milena;
    • Feng, Jinghua;
    • Wang, Paul;
    • Ha, Thuong;
    • King‐Smith, Sarah L.;
    • Schreiber, Andreas W.;
    • Crawford, April;
    • Manton, Nick;
    • Moore, Lynette;
    • Barnett, Christopher P.;
    • Scott, Hamish S.
    Publication type:
    Article
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    Expansion of the phenotype of lateral meningocele syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1259, doi. 10.1002/ajmg.a.61536
    By:
    • Cappuccio, Gerarda;
    • Apuzzo, Diletta;
    • Alagia, Marianna;
    • Torella, Annalaura;
    • Pinelli, Michele;
    • Franco, Brunella;
    • Corrado, Bruno;
    • Giudice, Ennio;
    • D'Amico, Alessandra;
    • Nigro, Vincenzo;
    • Brunetti‐Pierri, Nicola
    Publication type:
    Article
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    Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 994, doi. 10.1002/ajmg.a.61523
    By:
    • Ayoub, Sandy;
    • Ghali, Neeti;
    • Angwin, Chloe;
    • Baker, Duncan;
    • Baffini, Stella;
    • Brady, Angela F.;
    • Giovannucci Uzielli, Maria Luisa;
    • Giunta, Cecilia;
    • Johnson, Diana S.;
    • Kosho, Tomoki;
    • Neas, Katherine;
    • Pope, F. Michael;
    • Rutsch, Frank;
    • Scarselli, Gloria;
    • Sobey, Glenda;
    • Vandersteen, Anthony;
    • Dijk, Fleur S.
    Publication type:
    Article
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    KBG syndrome: Common and uncommon clinical features based on 31 new patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1073, doi. 10.1002/ajmg.a.61524
    By:
    • Gnazzo, Maria;
    • Lepri, Francesca R;
    • Dentici, Maria Lisa;
    • Capolino, Rossella;
    • Pisaneschi, Elisa;
    • Agolini, Emanuele;
    • Rinelli, Martina;
    • Alesi, Viola;
    • Versacci, Paolo;
    • Genovese, Silvia;
    • Cesario, Claudia;
    • Sinibaldi, Lorenzo;
    • Baban, Anwar;
    • Bartuli, Andrea;
    • Marino, Bruno;
    • Cappa, Marco;
    • Dallapiccola, Bruno;
    • Novelli, Antonio;
    • Digilio, Maria Cristina
    Publication type:
    Article
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    Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1236, doi. 10.1002/ajmg.a.61520
    By:
    • Le Van Quyen, Pauline;
    • Calmels, Nadège;
    • Bonnière, Maryse;
    • Chartier, Suzanne;
    • Razavi, Féréchté;
    • Chelly, Jamel;
    • El Chehadeh, Salima;
    • Baer, Sarah;
    • Boutaud, Lucile;
    • Bacrot, Séverine;
    • Obringer, Cathy;
    • Favre, Romain;
    • Attié‐Bitach, Tania;
    • Laugel, Vincent;
    • Antal, Maria C.
    Publication type:
    Article
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    Expanding the spectrum of CEP55‐associated disease to viable phenotypes.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1201, doi. 10.1002/ajmg.a.61512
    By:
    • Barrie, Elizabeth S.;
    • Overwater, Eline;
    • Haelst, Mieke M.;
    • Motazacker, M. Mahdi;
    • Truxal, Kristen V.;
    • Crist, Erin;
    • Mostafavi, Roya;
    • Pivnick, Eniko K.;
    • Choudhri, Asim F.;
    • Narumanchi, TaraChandra;
    • Castelluccio, Valerie;
    • Walsh, Laurence E.;
    • Garganta, Cheryl;
    • Gastier‐Foster, Julie M.
    Publication type:
    Article
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    Nine newly identified individuals refine the phenotype associated with MYT1L mutations.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1021, doi. 10.1002/ajmg.a.61515
    By:
    • Windheuser, Isabelle C.;
    • Becker, Jessica;
    • Cremer, Kirsten;
    • Hundertmark, Hela;
    • Yates, Laura M.;
    • Mangold, Elisabeth;
    • Peters, Sophia;
    • Degenhardt, Franziska;
    • Ludwig, Kerstin U.;
    • Zink, Alexander M.;
    • Lessel, Davor;
    • Bierhals, Tatjana;
    • Herget, Theresia;
    • Johannsen, Jessika;
    • Denecke, Jonas;
    • Wohlleber, Eva;
    • Strom, Tim M.;
    • Wieczorek, Dagmar;
    • Bertoli, Marta;
    • Colombo, Roberto
    Publication type:
    Article
    34

    SCN8A heterozygous variants are associated with anoxic‐epileptic seizures.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1209, doi. 10.1002/ajmg.a.61513
    By:
    • Ranza, Emmanuelle;
    • Z'Graggen, Werner;
    • Lidgren, Mathias;
    • Beghetti, Maurice;
    • Guipponi, Michel;
    • Antonarakis, Stylianos E.;
    • Absoud, Michael;
    • Goyal, Sushma;
    • Pal, Deb K.;
    • Korff, Christian M.
    Publication type:
    Article
    35

    Phenotypic expansion of KMT2D‐related disorder: Beyond Kabuki syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1053, doi. 10.1002/ajmg.a.61518
    By:
    • Baldridge, Dustin;
    • Spillmann, Rebecca C.;
    • Wegner, Daniel J.;
    • Wambach, Jennifer A.;
    • White, Frances V.;
    • Sisco, Kathleen;
    • Toler, Tomi L.;
    • Dickson, Patricia I.;
    • Cole, F. Sessions;
    • Shashi, Vandana;
    • Grange, Dorothy K.
    Publication type:
    Article
    36

    Three‐dimensional facial morphology in Cantú syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1041, doi. 10.1002/ajmg.a.61517
    By:
    • Roessler, Helen I.;
    • Shields, Kathleen;
    • Grange, Dorothy K.;
    • Knoers, Nine V.A.M.;
    • Haaften, Gijs;
    • Hammond, Peter;
    • Haelst, Mieke M.
    Publication type:
    Article
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    Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1223, doi. 10.1002/ajmg.a.61506
    By:
    • Acosta‐Fernández, Elizabeth;
    • Zenteno, Juan C.;
    • Chacón‐Camacho, Oscar F.;
    • Peña‐Padilla, Christian;
    • Bobadilla‐Morales, Lucina;
    • Corona‐Rivera, Alfredo;
    • Romo‐Huerta, Carmen O.;
    • Zepeda‐Romero, Luz C.;
    • López‐Marure, Eloy;
    • Acosta‐León, Jorge;
    • García‐Cruz, Diana;
    • Maciel‐Cruz, Eric Jonathan;
    • Corona‐Rivera, Jorge Román
    Publication type:
    Article
    40

    De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 962, doi. 10.1002/ajmg.a.61505
    By:
    • Chilton, Ilana;
    • Okur, Volkan;
    • Vitiello, Giuseppina;
    • Selicorni, Angelo;
    • Mariani, Milena;
    • Goldenberg, Alice;
    • Husson, Thomas;
    • Campion, Dominique;
    • Lichtenbelt, Klaske D.;
    • Gassen, Koen;
    • Steinraths, Michelle;
    • Rice, Jennifer;
    • Roeder, Elizabeth R.;
    • Littlejohn, Rebecca O.;
    • Srour, Myriam;
    • Sebire, Guillaume;
    • Accogli, Andrea;
    • Héron, Delphine;
    • Heide, Solveig;
    • Nava, Caroline
    Publication type:
    Article
    41

    A founder truncating variant in GDF1 causes autosomal‐recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 987, doi. 10.1002/ajmg.a.61509
    By:
    • Marek‐Yagel, Dina;
    • Bolkier, Yoav;
    • Barel, Ortal;
    • Vardi, Amir;
    • Mishali, David;
    • Katz, Uriel;
    • Salem, Yishay;
    • Abudi, Shachar;
    • Nayshool, Omri;
    • Kol, Nitzan;
    • Raas‐Rothschild, Annick;
    • Rechavi, Gideon;
    • Anikster, Yair;
    • Pode‐Shakked, Ben
    Publication type:
    Article
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    Publication schedule for 2020.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 948, doi. 10.1002/ajmg.a.61231
    Publication type:
    Article
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