Works matching IS 15524825 AND DT 2020 AND VI 182 AND IP 1

Results: 43
    1

    Corrigendum.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 269, doi. 10.1002/ajmg.a.61418
    Publication type:
    Article
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 10, doi. 10.1002/ajmg.a.61421
    Publication type:
    Article
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    Agenesis of the corpus callosum and hepatoblastoma.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 224, doi. 10.1002/ajmg.a.61417
    By:
    • Luckie, Taylor M.;
    • Potter, Samara L.;
    • Bacino, Carlos A.;
    • Shah, Rachana;
    • Heczey, Andras;
    • Venkatramani, Rajkumar
    Publication type:
    Article
    7

    Alu‐mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 219, doi. 10.1002/ajmg.a.61416
    By:
    • Majer, Filip;
    • Kousal, Bohdan;
    • Dusek, Petr;
    • Piherova, Lenka;
    • Reboun, Martin;
    • Mihalova, Romana;
    • Gurka, Jiri;
    • Krebsova, Alice;
    • Vlaskova, Hana;
    • Dvorakova, Lenka;
    • Krihova, Jana;
    • Liskova, Petra;
    • Kmoch, Stanislav;
    • Kalina, Tomas;
    • Kubanek, Milos;
    • Sikora, Jakub
    Publication type:
    Article
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    International meeting on Wolf‐Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 257, doi. 10.1002/ajmg.a.61406
    By:
    • Nevado, Julián;
    • Ho, Karen S.;
    • Zollino, Marcella;
    • Blanco, Raquel;
    • Cobaleda, César;
    • Golzio, Christelle;
    • Beaudry‐Bellefeuille, Isabelle;
    • Berrocoso, Sarah;
    • Limeres, Jacobo;
    • Barrúz, Pilar;
    • Serrano‐Martín, Candela;
    • Cafiero, Concetta;
    • Málaga, Ignacio;
    • Marangi, Giuseppe;
    • Campos‐Sánchez, Elena;
    • Moriyón‐Iglesias, Tania;
    • Márquez, Sorangui;
    • Markham, Leah;
    • Twede, Hope;
    • Lortz, Amanda
    Publication type:
    Article
    14

    Weight gain velocity in infants with achondroplasia.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 146, doi. 10.1002/ajmg.a.61400
    By:
    • Buratti, Madeleine E.;
    • Eickhoff, Jens;
    • Modaff, Peggy;
    • Pauli, Richard M.;
    • Legare, Janet M.
    Publication type:
    Article
    15
    16

    Growth hormone deficiency in megalencephaly‐capillary malformation syndrome: An association with activating mutations in PIK3CA.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 162, doi. 10.1002/ajmg.a.61403
    By:
    • Davis, Shanlee;
    • Ware, Meredith A.;
    • Zeiger, Jordan;
    • Deardorff, Matthew A.;
    • Grand, Katheryn;
    • Grimberg, Adda;
    • Hsu, Stephanie;
    • Kelsey, Megan;
    • Majidi, Shideh;
    • Matthew, Revi P.;
    • Napier, Melanie;
    • Nokoff, Natalie;
    • Prasad, Chitra;
    • Riggs, Andrew C.;
    • McKinnon, Margaret L.;
    • Mirzaa, Ghayda
    Publication type:
    Article
    17

    Blood pressure in adults with short stature skeletal dysplasias.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 150, doi. 10.1002/ajmg.a.61402
    By:
    • Hoover‐Fong, Julie;
    • Alade, Adekemi Yewande;
    • Ain, Michael;
    • Berkowitz, Ivor;
    • Bober, Michael;
    • Carter, Erin;
    • Hecht, Jacqueline;
    • Hoerschemeyer, Dan;
    • Krakow, Debra;
    • MacCarrick, Gretchen;
    • Mackenzie, William G.;
    • Mendoza, Roberto;
    • Okenfuss, Ericka;
    • Popplewell, Deirdre;
    • Raggio, Cathleen;
    • Schulze, Kerry;
    • McGready, John
    Publication type:
    Article
    18

    IRF2BPL gene variants: One new case.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 255, doi. 10.1002/ajmg.a.61401
    By:
    • Spagnoli, Carlotta;
    • Rizzi, Susanna;
    • Salerno, Grazia G.;
    • Frattini, Daniele;
    • Fusco, Carlo
    Publication type:
    Article
    19

    Okur‐Chung neurodevelopmental syndrome in a patient from Spain.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 20, doi. 10.1002/ajmg.a.61405
    By:
    • Martinez‐Monseny, Antonio F.;
    • Casas‐Alba, Dídac;
    • Arjona, César;
    • Bolasell, Mercè;
    • Casano, Paula;
    • Muchart, Jordi;
    • Ramos, Federico;
    • Martorell, Loreto;
    • Palau, Francesc;
    • García‐Alix, Alfredo;
    • Serrano, Mercedes
    Publication type:
    Article
    20

    Healthcare recommendations for Joubert syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 229, doi. 10.1002/ajmg.a.61399
    By:
    • Bachmann‐Gagescu, Ruxandra;
    • Dempsey, Jennifer C.;
    • Bulgheroni, Sara;
    • Chen, Maida L.;
    • D'Arrigo, Stefano;
    • Glass, Ian A.;
    • Heller, Theo;
    • Héon, Elise;
    • Hildebrandt, Friedhelm;
    • Joshi, Nirmal;
    • Knutzen, Dana;
    • Kroes, Hester Y.;
    • Mack, Stephen H.;
    • Nuovo, Sara;
    • Parisi, Melissa A.;
    • Snow, Joseph;
    • Summers, Angela C.;
    • Symons, Jordan M.;
    • Zein, Wadih M.;
    • Boltshauser, Eugen
    Publication type:
    Article
    21

    CHARGE syndrome in nine patients from China.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 15, doi. 10.1002/ajmg.a.61398
    By:
    • Cheng, Shirley S. W.;
    • Luk, Ho‐Ming;
    • Chan, David K. H.;
    • Lo, Ivan F. M.
    Publication type:
    Article
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    Sleep‐disordered breathing in children with pycnodysostosis.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 122, doi. 10.1002/ajmg.a.61393
    By:
    • Khirani, Sonia;
    • Amaddeo, Alessandro;
    • Baujat, Geneviève;
    • Michot, Caroline;
    • Couloigner, Vincent;
    • Pinto, Graziella;
    • Arnaud, Eric;
    • Picard, Arnaud;
    • Cormier‐Daire, Valérie;
    • Fauroux, Brigitte
    Publication type:
    Article
    27

    Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 189, doi. 10.1002/ajmg.a.61392
    By:
    • Boone, Philip M.;
    • Paterson, Scott;
    • Mohajeri, Kiana;
    • Zhu, Wenmiao;
    • Genetti, Casie A.;
    • Tai, Derek J. C.;
    • Nori, Neeharika;
    • Agrawal, Pankaj B.;
    • Bacino, Carlos A.;
    • Bi, Weimin;
    • Talkowski, Michael E.;
    • Hogan, Benjamin M.;
    • Rodan, Lance H.
    Publication type:
    Article
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    Brain white matter abnormalities associated with copy number variants.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 93, doi. 10.1002/ajmg.a.61389
    By:
    • Vigdorovich, Nitzan;
    • Ben‐Sira, Liat;
    • Blumkin, Lubov;
    • Precel, Ronit;
    • Nezer, Ifat;
    • Yosovich, Keren;
    • Cross, Zachary;
    • Vanderver, Adeline;
    • Lev, Dorit;
    • Lerman‐Sagie, Tally;
    • Zerem, Ayelet
    Publication type:
    Article
    31
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    Prenatal and perinatal history in Kabuki Syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 85, doi. 10.1002/ajmg.a.61387
    By:
    • Rosenberg, Chen E.;
    • Daly, Tara;
    • Hung, Christina;
    • Hsueh, Irene;
    • Lindsley, Andrew W.;
    • Bodamer, Olaf
    Publication type:
    Article
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    Delayed appearance of 3‐methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 64, doi. 10.1002/ajmg.a.61383
    By:
    • Baban, Anwar;
    • Adorisio, Rachele;
    • Corica, Bernadette;
    • Rizzo, Cristiano;
    • Calì, Federica;
    • Semeraro, Michela;
    • Taurisano, Roberta;
    • Magliozzi, Monia;
    • Carrozzo, Rosalba;
    • Parisi, Francesco;
    • Dallapiccola, Bruno;
    • Vaz, Frédéric M.;
    • Drago, Fabrizio;
    • Dionisi‐Vici, Carlo
    Publication type:
    Article
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    Phenotypic expansion of POGZ‐related intellectual disability syndrome (White‐Sutton syndrome).

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 38, doi. 10.1002/ajmg.a.61380
    By:
    • Assia Batzir, Nurit;
    • Posey, Jennifer E.;
    • Song, Xiaofei;
    • Akdemir, Zeynep Coban;
    • Rosenfeld, Jill A.;
    • Brown, Chester W.;
    • Chen, Emily;
    • Holtrop, Shannon G.;
    • Mizerik, Elizabeth;
    • Nieto Moreno, Margarita;
    • Payne, Katelyn;
    • Raas‐Rothschild, Annick;
    • Scott, Richard;
    • Vernon, Hilary J.;
    • Zadeh, Neda;
    • Lupski, James R.;
    • Sutton, V. Reid
    Publication type:
    Article
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    Publication schedule for 2020.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 6, doi. 10.1002/ajmg.a.61219
    Publication type:
    Article
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