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

Results: 15

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

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

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

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

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