Works matching IS 15524868 AND DT 2021 AND VI 187 AND IP 3

Results: 15

    • Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals.

      Published in:
      American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 3, p. 357, doi. 10.1002/ajmg.c.31931
      By:
      • Naslavsky, Michel S.;
      • Scliar, Marília O.;
      • Nunes, Kelly;
      • Wang, Jaqueline Y. T.;
      • Yamamoto, Guilherme L.;
      • Guio, Heinner;
      • Tarazona‐Santos, Eduardo;
      • Duarte, Yeda A. O.;
      • Passos‐Bueno, Maria Rita;
      • Meyer, Diogo;
      • Zatz, Mayana
      Publication type:
      Article

    • Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.

      Published in:
      American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 3, p. 349, doi. 10.1002/ajmg.c.31915
      By:
      • Josahkian, Juliana Alves;
      • Brusius‐Facchin, Ana Carolina;
      • Netto, Alice Brinckmann Oliveira;
      • Leistner‐Segal, Sandra;
      • Málaga, Diana Rojas;
      • Burin, Maira Graeff;
      • Michelin‐Tirelli, Kristiane;
      • Trapp, Franciele Barbosa;
      • Cardoso‐dos‐Santos, Augusto César;
      • Ribeiro, Erlane Marques;
      • Kim, Chong Ae;
      • de Siqueira, Ana Cecília Menezes;
      • Santos, Mara Lucia;
      • do Valle, Daniel Almeida;
      • da Silva, Raquel Tavares Boy;
      • Horovitz, Dafne Dain Gandelman;
      • de Medeiros, Paula Frassinetti Vasconcelos;
      • de Souza, Carolina Fischinger Moura;
      • Giuliani, Liane de Rosso;
      • Miguel, Diego Santana Chaves Geraldo
      Publication type:
      Article

    • Clinical trials for genetic diseases in Latin America.

      Published in:
      American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 3, p. 381, doi. 10.1002/ajmg.c.31934
      By:
      • Poswar, Fabiano de Oliveira;
      • da Silva, Larissa Pozzebon;
      • Zambrano, Marina Bauer;
      • Pedrini, Diane Bressan;
      • Saute, Jonas Alex Morales;
      • Giugliani, Roberto
      Publication type:
      Article

    • Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile.

      Published in:
      American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 3, p. 373, doi. 10.1002/ajmg.c.31933
      By:
      • Medina, María Fernanda;
      • Castro, Gabriela;
      • Falcon, Felipe;
      • Cabello, Juan Francisco;
      • Faundes, Víctor;
      • Ruffato, Diana;
      • Salazar, María Florencia;
      • Arias, Carolina;
      • Peñaloza, Felipe;
      • De La Parra, Alicia;
      • Cornejo, Verónica
      Publication type:
      Article

    • Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients.

      Published in:
      American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 3, p. 364, doi. 10.1002/ajmg.c.31932
      By:
      • Quaio, Caio Robledo D'Angioli Costa;
      • Chung, Christine Hsiaoyun;
      • Perazzio, Sandro Felix;
      • Dutra, Aurelio Pimenta;
      • Moreira, Caroline Monaco;
      • Filho, Gil Monteiro Novo;
      • Sacramento‐Bobotis, Patricia Rossi;
      • Penna, Michele Groenner;
      • de Souza, Rafaela Rogerio Floriano;
      • Cintra, Vivian Pedigone;
      • Carnavalli, Juliana Emilia Prior;
      • da Silva, Rafael Alves;
      • Paixão, Daniele;
      • Baratela, Wagner Antonio da Rosa;
      • Olivati, Caroline;
      • Spolador, Gustavo Marquezani;
      • Santos, Monize Nakamoto Provisor;
      • Pintao, Maria Carolina;
      • Fornari, Alexandre Ricardo dos Santos;
      • Burger, Matheus
      Publication type:
      Article

    • Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias.

      Published in:
      American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 3, p. 396, doi. 10.1002/ajmg.c.31937
      By:
      • Silveira, Karina C.;
      • Kanazawa, Thatiane Y.;
      • Silveira, Cynthia;
      • Lacarrubba‐Flores, Maria D. J.;
      • Carvalho, Benilton S.;
      • Cavalcanti, Denise P.
      Publication type:
      Article

    • Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia.

      Published in:
      American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 3, p. 388, doi. 10.1002/ajmg.c.31936
      By:
      • Pachajoa, Harry;
      • Acosta, Maria Amparo;
      • Alméciga‐Díaz, Carlos J.;
      • Ariza, Yoseth;
      • Diaz‐Ordoñez, Lorena;
      • Caicedo‐Herrera, Gabriela;
      • Cuartas, Daniel;
      • Nastasi‐Catanese, Jose Antonio;
      • Ramírez‐Montaño, Diana;
      • Silva, Yiseth Katherine;
      • Moreno, Lina;
      • Satizabal, Jose;
      • Garcia, Natalia;
      • Montoya, Jorge;
      • Prada, Carlos;
      • Porras, Gloria;
      • Velasco, Harvy;
      • Candelo, Estephania
      Publication type:
      Article

    • Genetic testing to restore the human right to identity in post‐dictatorship Argentina: Ethical, legal, and social issues.

      Published in:
      American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 3, p. 329, doi. 10.1002/ajmg.c.31905
      Publication type:
      Article

    • Network‐based analysis using chromosomal microdeletion syndromes as a model.

      Published in:
      American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 3, p. 337, doi. 10.1002/ajmg.c.31900
      By:
      • Corrêa, Thiago;
      • Feltes, Bruno César;
      • Schinzel, Albert;
      • Riegel, Mariluce
      Publication type:
      Article

    • Newborn screening in Latin America: A brief overview of the state of the art.

      Published in:
      American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 3, p. 322, doi. 10.1002/ajmg.c.31899
      Publication type:
      Article

    • SARS‐CoV‐2 pandemic in the Brazilian community of rare diseases: A patient reported survey.

      Published in:
      American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 3, p. 301, doi. 10.1002/ajmg.c.31883
      By:
      • Schwartz, Ida Vanessa Doederlein;
      • Randon, Dévora Natalia;
      • Monsores, Natan;
      • Moura de Souza, Carolina Fischinger;
      • Horovitz, Dafne Dain Gandelman;
      • Wilke, Matheus Vernet Machado Bressan;
      • Brunoni, Decio
      Publication type:
      Article

    • Description and results of birth defects surveillance and follow‐up programs in Bogotá and Cali, Colombia, 2002–2019.

      Published in:
      American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 3, p. 312, doi. 10.1002/ajmg.c.31880
      By:
      • Zarante, Ignacio;
      • Carreño‐Martinez, Angie Carolina;
      • Ibañez, Lina Maria;
      • Gracia, Gloria;
      • Blandón, Esperanza;
      • Perez, Gladys;
      • Holguín, Jorge;
      • Hurtado‐Villa, Paula
      Publication type:
      Article

    • Cover Image, Volume 187C, Number 3, September 2021.

      Published in:
      American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 3, p. i, doi. 10.1002/ajmg.c.31817
      Publication type:
      Article

    • Publication schedule for 2021.

      Published in:
      American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 3, p. 299, doi. 10.1002/ajmg.c.31816
      Publication type:
      Article

    • Table of Contents, Volume 187C, Number 3, September 2021.

      Published in:
      American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 3, p. 297, doi. 10.1002/ajmg.c.31815
      Publication type:
      Article