Works matching IS 15524825 AND DT 2021 AND VI 185 AND IP 12

Results: 58
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    Neuroimaging in Kabuki syndrome and another KMT2D‐related disorder.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3770, doi. 10.1002/ajmg.a.62450
    By:
    • Stadelmaier, Rachel T.;
    • Kenna, Margaret A.;
    • Barrett, Devon;
    • Mullen, Thomas E.;
    • Bodamer, Olaf;
    • Agrawal, Pankaj B.;
    • Robson, Caroline D.;
    • Wojcik, Monica H.
    Publication type:
    Article
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    Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3784, doi. 10.1002/ajmg.a.62447
    By:
    • Kolvenbach, Caroline M.;
    • van der Ven, Amelie T.;
    • Kause, Franziska;
    • Shril, Shirlee;
    • Scala, Marcello;
    • Connaughton, Dervla M.;
    • Mann, Nina;
    • Nakayama, Makiko;
    • Dai, Rufeng;
    • Kitzler, Thomas M.;
    • Schneider, Ronen;
    • Schierbaum, Luca;
    • Schneider, Sophia;
    • Accogli, Andrea;
    • Torella, Annalaura;
    • Piatelli, Gianluca;
    • Nigro, Vincenzo;
    • Capra, Valeria;
    • Hoppe, Bernd;
    • Märzheuser, Stefanie
    Publication type:
    Article
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    ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3740, doi. 10.1002/ajmg.a.62445
    By:
    • Kushary, Sulagna Tina;
    • Revah‐Politi, Anya;
    • Barua, Subit;
    • Ganapathi, Mythily;
    • Accogli, Andrea;
    • Aggarwal, Vimla;
    • Brunetti‐Pierri, Nicola;
    • Cappuccio, Gerarda;
    • Capra, Valeria;
    • Fagerberg, Christina R.;
    • Gazdagh, Gabriella;
    • Guzman, Edwin;
    • Hadonou, Medard;
    • Harrison, Victoria;
    • Havelund, Kathrine;
    • Iancu, Daniela;
    • Kraus, Alison;
    • Lippa, Natalie C.;
    • Mansukhani, Mahesh;
    • McBrian, Danielle
    Publication type:
    Article
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    Psychiatric disorders in individuals with neurofibromatosis 1 in Denmark: A nationwide register‐based cohort study.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3706, doi. 10.1002/ajmg.a.62436
    By:
    • Kenborg, Line;
    • Andersen, Elisabeth W.;
    • Duun‐Henriksen, Anne Katrine;
    • Jepsen, Jens R. M.;
    • Doser, Karoline;
    • Dalton, Susanne O.;
    • Bidstrup, Pernille E.;
    • Krøyer, Anja;
    • Frederiksen, Line E.;
    • Johansen, Christoffer;
    • Østergaard, John R.;
    • Hove, Hanne;
    • Sørensen, Sven Asger;
    • Riccardi, Vincent M.;
    • Mulvihill, John J.;
    • Winther, Jeanette F.
    Publication type:
    Article
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    Auditory and olfactory findings in patients with USH2A‐related retinal degeneration—Findings at baseline from the rate of progression in USH2A‐related retinal degeneration natural history study (RUSH2A).

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3717, doi. 10.1002/ajmg.a.62437
    By:
    • Iannaccone, Alessandro;
    • Brewer, Carmen C.;
    • Cheng, Peiyao;
    • Duncan, Jacque L.;
    • Maguire, Maureen G.;
    • Audo, Isabelle;
    • Ayala, Allison R.;
    • Bernstein, Paul S.;
    • Bidelman, Gavin M.;
    • Cheetham, Janet K.;
    • Doty, Richard L.;
    • Durham, Todd A.;
    • Hufnagel, Robert B.;
    • Myers, Mark H.;
    • Stingl, Katarina;
    • Zein, Wadih M.
    Publication type:
    Article
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    Expanding the KIF4A‐associated phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3728, doi. 10.1002/ajmg.a.62443
    By:
    • Kalantari, Silvia;
    • Carlston, Colleen;
    • Alsaleh, Norah;
    • Abdel‐Salam, Ghada M. H.;
    • Alkuraya, Fowzan;
    • Kato, Mitsuhiro;
    • Matsumoto, Naomichi;
    • Miyatake, Satoko;
    • Yamamoto, Tatsuya;
    • Fares‐Taie, Lucas;
    • Rozet, Jean‐Michel;
    • Chassaing, Nicolas;
    • Vincent‐Delorme, Catherine;
    • Kang‐Bellin, Anjeung;
    • McWalter, Kirsty;
    • Bupp, Caleb;
    • Palen, Emily;
    • Wagner, Monisa D.;
    • Niceta, Marcello;
    • Cesario, Claudia
    Publication type:
    Article
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    Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3694, doi. 10.1002/ajmg.a.62430
    By:
    • Wenger, Tara L.;
    • Perkins, Jonathan;
    • Parish‐Morris, Julia;
    • Hing, Anne V.;
    • Chen, Maida L.;
    • Cielo, Christopher M.;
    • Li, Dong;
    • Bhoj, Elizabeth J.;
    • Hakonarson, Hakon;
    • Zackai, Elaine;
    • McDonald‐McGinn, Donna M.;
    • Taylor, Jesse A.;
    • Jackson, Oksana;
    • Sie, Kathleen;
    • Bly, Randall;
    • Dahl, John;
    • Evans, Kelly N.
    Publication type:
    Article
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    Corrigendum to "HECW2‐related disorder in four Japanese patients. Am J Med Genet Part A. First published: 28 May 2021 https://doi.org/10.1002/ajmg.a.62363".

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3926, doi. 10.1002/ajmg.a.62414
    By:
    • Yanagishita, Tomoe;
    • Hirade, Takuya;
    • Yamamoto, Keiko Shimojima;
    • 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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    Samia Temtamy.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3613, doi. 10.1002/ajmg.a.62409
    By:
    • S. Aglan, Mona;
    • S. Zaki, Maha
    Publication type:
    Article
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    Craniofacial phenotypes associated with Robinow syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3606, doi. 10.1002/ajmg.a.61986
    By:
    • Conlon, Christopher J.;
    • Abu‐Ghname, Amjed;
    • Raghuram, Anjali C.;
    • Davis, Matthew J.;
    • Guillen, Diana E.;
    • Sutton, V. Reid;
    • Carvalho, Claudia M. B.;
    • Maricevich, Renata S.
    Publication type:
    Article
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    Extremity anomalies associated with Robinow syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3584, doi. 10.1002/ajmg.a.61884
    By:
    • Abu‐Ghname, Amjed;
    • Trost, Jeffrey;
    • Davis, Matthew J.;
    • Sutton, V. Reid;
    • Zhang, Chaofan;
    • Guillen, Diana E.;
    • Carvalho, Claudia M. B.;
    • Maricevich, Renata S.
    Publication type:
    Article
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    Speech and language development in children with 49,XXXXY syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3567, doi. 10.1002/ajmg.a.61767
    By:
    • Samango‐Sprouse, Carole A.;
    • Lasutschinkow, Patricia C.;
    • McLeod, Michael;
    • Porter, Grace F.;
    • Powell, Sherida;
    • St. Laurent, Jillyan;
    • Sadeghin, Teresa;
    • Gropman, Andrea L.
    Publication type:
    Article
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    Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3593, doi. 10.1002/ajmg.a.61908
    By:
    • Zhang, Chaofan;
    • Mazzeu, Juliana F.;
    • Eisfeldt, Jesper;
    • Grochowski, Christopher M.;
    • White, Janson;
    • Akdemir, Zeynep C.;
    • Jhangiani, Shalini N.;
    • Muzny, Donna M.;
    • Gibbs, Richard A.;
    • Lindstrand, Anna;
    • Lupski, James R.;
    • Sutton, V. Reid;
    • Carvalho, Claudia M. B.
    Publication type:
    Article
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