Works matching IS 15524825 AND DT 2021 AND VI 185 AND IP 7

Results: 46
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    Recurrent NFIA K125E substitution represents a loss‐of‐function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2084, doi. 10.1002/ajmg.a.62226
    By:
    • Uehara, Tomoko;
    • Sanuki, Rikako;
    • Ogura, Yurie;
    • Yokoyama, Atsushi;
    • Yoshida, Takeshi;
    • Futagawa, Hiroshi;
    • Yoshihashi, Hiroshi;
    • Yamada, Mamiko;
    • Suzuki, Hisato;
    • Takenouchi, Toshiki;
    • Matsubara, Kohei;
    • Hirata, Hiromi;
    • Kosaki, Kenjiro;
    • Takano‐Shimizu, Toshiyuki
    Publication type:
    Article
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    Sleep‐disordered breathing and its management in children with rare skeletal dysplasias.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2108, doi. 10.1002/ajmg.a.62236
    By:
    • Nguyen, Duy Bo;
    • Khirani, Sonia;
    • Griffon, Lucie;
    • Baujat, Geneviève;
    • Michot, Caroline;
    • Marzin, Pauline;
    • Rondeau, Sophie;
    • Luscan, Romain;
    • Couloigner, Vincent;
    • Pejin, Zagorka;
    • Zerah, Michel;
    • Cormier‐Daire, Valérie;
    • Fauroux, Brigitte
    Publication type:
    Article
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    Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2241, doi. 10.1002/ajmg.a.62221
    By:
    • Efthymiou, Stephanie;
    • Herman, Isabella;
    • Rahman, Fatima;
    • Anwar, Najwa;
    • Maroofian, Reza;
    • Yip, Janice;
    • Mitani, Tadahiro;
    • Calame, Daniel G.;
    • Hunter, Jill V.;
    • Sutton, V. Reid;
    • Gulec, Elif;
    • Duan, Ruizhi;
    • Fatih, Jawid M.;
    • Marafi, Dana;
    • Pehlivan, Davut;
    • Jhangiani, Shalini N.;
    • Gibbs, Richard A.;
    • Posey, Jennifer E.;
    • Maqbool, Shazia;
    • Lupski, James R.
    Publication type:
    Article
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    Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2190, doi. 10.1002/ajmg.a.62219
    By:
    • Rosano, Kristen K.;
    • Wegner, Daniel J.;
    • Shinawi, Marwan;
    • Baldridge, Dustin;
    • Bucelli, Robert C.;
    • Dahiya, Sonika;
    • White, Frances V.;
    • Willing, Marcia C.;
    • McAllister, William;
    • Taft, Ryan J.;
    • Bluske, Krista;
    • Buchanan, Amanda;
    • Cole, Francis Sessions;
    • Wambach, Jennifer A.
    Publication type:
    Article
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    Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2175, doi. 10.1002/ajmg.a.62216
    By:
    • Hanafusa, Hiroaki;
    • Hidaka, Yoshihiko;
    • Yamaguchi, Tomomi;
    • Shimojo, Hisashi;
    • Tsukahara, Takanori;
    • Murase, Tsubasa;
    • Matsuoka, Daisuke;
    • Chiba, Nao;
    • Shimada, Shun;
    • Morokawa, Hirokazu;
    • Omori, Norio;
    • Minoura, Hironori;
    • Nagano, China;
    • Takano, Kyoko;
    • Nakamura, Katsuya;
    • Wakui, Keiko;
    • Fukushima, Yoshimitsu;
    • Uehara, Takeshi;
    • Nakazawa, Yozo;
    • Iijima, Kazumoto
    Publication type:
    Article
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    A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2168, doi. 10.1002/ajmg.a.62215
    By:
    • Strong, Alanna;
    • O'Grady, Gina;
    • Shih, Evelyn;
    • Bishop, Jonathan R.;
    • Loomes, Kathleen;
    • Diamond, Tamir;
    • Hartung, Erum A.;
    • Wong, William;
    • Cuddapah, Sanmati;
    • Cahill, Anne Marie;
    • Hou, Cuiping;
    • Slater, Diana;
    • Vaccaro, Courtney;
    • Watson, Deborah;
    • Li, Dong;
    • Hakonarson, Hakon
    Publication type:
    Article
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    Choose your words carefully.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 1953, doi. 10.1002/ajmg.a.62206
    By:
    • Robin, Nathaniel H.
    Publication type:
    Article
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    Craniosynostosis is a feature of CHD7‐related CHARGE syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2160, doi. 10.1002/ajmg.a.62208
    By:
    • De Luca, Chiara;
    • Picone, Simonetta;
    • Cassina, Matteo;
    • Marziali, Simone;
    • Morlino, Silvia;
    • Camerota, Letizia;
    • Tamburrini, Gianpiero;
    • Castori, Marco;
    • Paolillo, Piermichele;
    • Salviati, Leonardo;
    • Brancati, Francesco
    Publication type:
    Article
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    A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 1972, doi. 10.1002/ajmg.a.62192
    By:
    • Duan, Ruizhi;
    • Saadi, Nebal Waill;
    • Grochowski, Christopher M.;
    • Bhadila, Ghalia;
    • Faridoun, Afnan;
    • Mitani, Tadahiro;
    • Du, Haowei;
    • Fatih, Jawid M.;
    • Jhangiani, Shalini N.;
    • Akdemir, Zeynep C.;
    • Gibbs, Richard A.;
    • Pehlivan, Davut;
    • Posey, Jennifer E.;
    • Marafi, Dana;
    • Lupski, James R.
    Publication type:
    Article
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    Heterozygous variants in SPTBN1 cause intellectual disability and autism.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2037, doi. 10.1002/ajmg.a.62201
    By:
    • Rosenfeld, Jill A.;
    • Xiao, Rui;
    • Bekheirnia, Mir Reza;
    • Kanani, Farah;
    • Parker, Michael J.;
    • Koenig, Mary K.;
    • Haeringen, Arie;
    • Ruivenkamp, Claudia;
    • Rosmaninho‐Salgado, Joana;
    • Almeida, Pedro M.;
    • Sá, Joaquim;
    • Pinto Basto, Jorge;
    • Palen, Emily;
    • Oetjens, Kathryn F.;
    • Burrage, Lindsay C.;
    • Xia, Fan;
    • Liu, Pengfei;
    • Eng, Christine M.;
    • Yang, Yaping;
    • Posey, Jennifer E.
    Publication type:
    Article
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    Feingold syndrome type 2 in a patient from China.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2262, doi. 10.1002/ajmg.a.62190
    By:
    • Lei, Jie;
    • Han, Luhao;
    • Huang, Yanke;
    • Long, Min;
    • Zhao, Gang;
    • Yan, Shida;
    • Zhang, Jing
    Publication type:
    Article
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    Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2136, doi. 10.1002/ajmg.a.62194
    By:
    • Hildebrandt, Clara C.;
    • Patel, Nisha;
    • Graham, John M.;
    • Bamshad, Michael;
    • Nickerson, Deborah A.;
    • White, Janson J.;
    • Marvin, Colby T.;
    • Miller, Danny E.;
    • Grand, Katheryn L.;
    • Sanchez‐Lara, Pedro A.;
    • Schweitzer, Daniela;
    • Al‐Zaidan, Hamad I.;
    • Al Masseri, Zainab;
    • Alkuraya, Fowzan S.;
    • Lin, Angela E.
    Publication type:
    Article
    36

    MYH1 is a candidate gene for recurrent rhabdomyolysis in humans.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2131, doi. 10.1002/ajmg.a.62188
    By:
    • Alsaif, Hessa S.;
    • Alshehri, Ali;
    • Sulaiman, Raashda A.;
    • Al‐Hindi, Hindi;
    • Guzmán‐Vega, Francisco J.;
    • Arold, Stefan T.;
    • Alkuraya, Fowzan S.
    Publication type:
    Article
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    Parental mosaicism in de novo neurodevelopmental diseases.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2119, doi. 10.1002/ajmg.a.62174
    By:
    • Shu, Li;
    • Zhang, Qianjun;
    • Tian, Qi;
    • Yang, Sai;
    • Peng, Xingwang;
    • Mao, Xiao;
    • Yang, Liming;
    • Du, Juan;
    • Wang, Hua
    Publication type:
    Article
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 1951, doi. 10.1002/ajmg.a.61683
    Publication type:
    Article
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    Publication schedule for 2021.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 1947, doi. 10.1002/ajmg.a.61680
    Publication type:
    Article
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