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Cover Image, Volume 184, Number 4, December 2020.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. i, doi. 10.1002/ajmg.c.31877
Publication type:
Article
Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 1030, doi. 10.1002/ajmg.c.31871
By:
- Sobering, Andrew K.;
- Li, Dong;
- Beighley, Jennifer S.;
- Carey, John C.;
- Donald, Tyhiesia;
- Elsea, Sarah H.;
- Figueroa, Karla P.;
- Gerdts, Jennifer;
- Hamlet, Andre;
- Mirzaa, Ghayda M.;
- Nelson, Beverly;
- Pulst, Stefan M.;
- Smith, Janice L.;
- Tassone, Flora;
- Toriello, Helga V.;
- Walker, Ruth H.;
- Yearwood, Katherine R.;
- Bhoj, Elizabeth J.
Publication type:
Article
Skeletal dysplasias in Latin America.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 986, doi. 10.1002/ajmg.c.31861
By:
- Cavalcanti, Denise P.;
- Fano, Virginia;
- Mellado, Cecilia;
- Lacarrubba‐Flores, Maria Dora J.;
- Silveira, Cynthia;
- Silveira, Karina C.;
- Pino, Mariana;
- Moresco, Angelica;
- Caino, Silvia;
- Ramos Mejía, Rosario;
- García, Cristián J.;
- Lay‐Son, Guillermo;
- Ferreira, Carlos R.
Publication type:
Article
Table of Contents, Volume 184, Number 4, December 2020.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 869, doi. 10.1002/ajmg.c.31714
Publication type:
Article
Introduction to the special issue on Clinical Genetics in Latin America.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 873, doi. 10.1002/ajmg.c.31875
By:
- Prada, Carlos E.;
- Cavalcanti, Denise;
- Schwartz, Ida Vanessa Doederlein;
- Zarate, Yuri A.
Publication type:
Article
The Latin American network for congenital malformation surveillance: ReLAMC.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 1078, doi. 10.1002/ajmg.c.31872
By:
- Orioli, Iêda Maria;
- Dolk, Helen;
- Lopez‐Camelo, Jorge;
- Groisman, Boris;
- Benavides‐Lara, Adriana;
- Gimenez, Lucas Gabriel;
- Correa, Daniel Mattos;
- Ascurra, Marta;
- Bonilha, Eliana;
- Canessa‐Tapia, Maria Aurora;
- França, Giovanny Vinícius Araújo;
- Hurtado‐Villa, Paula;
- Ibarra‐Ramírez, Marisol;
- Pardo, Rosa;
- Pastora, Dania Maria;
- Zarante, Ignacio;
- Soares, Flávia Schneider;
- Carvalho, Flávia Martinez;
- Piola, Mariana
Publication type:
Article
Adaptation and co‐adaptation of skin pigmentation and vitamin D genes in native Americans.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 1060, doi. 10.1002/ajmg.c.31873
By:
- Missaggia, Bruna Oliveira;
- Reales, Guillermo;
- Cybis, Gabriela B.;
- Hünemeier, Tábita;
- Bortolini, Maria Cátira
Publication type:
Article
Generalized hypertrichosis syndromes in Mexico.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 1014, doi. 10.1002/ajmg.c.31864
By:
- Aguayo‐Orozco, Thania Alejandra;
- Ríos‐González, Blanca Estela;
- Castro‐Martínez, Anna Gabriela;
- Ruiz‐Ramírez, Andrea Virginia;
- Figuera, Luis E.
Publication type:
Article
Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 1052, doi. 10.1002/ajmg.c.31870
By:
- Abell, Katherine;
- Chadwell, Sarah E.;
- Burrow, Thomas Andrew;
- Becker, Ana Paula Pizzio;
- Bailey, Laurie;
- Steele, Paul;
- Zhang, Xue;
- Islas‐Ohlmayer, Miguel;
- Bittencourt, Rosane;
- Schwartz, Ida Vanessa Doederlein;
- Prada, Carlos E.
Publication type:
Article
Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 1042, doi. 10.1002/ajmg.c.31869
By:
- Lores, Juliana;
- Prada, Carlos E.;
- Ramírez‐Montaño, Diana;
- Nastasi‐Catanese, José A.;
- Pachajoa, Harry
Publication type:
Article
Autosomal dominant early onset Alzheimer's disease in the Mexican state of Jalisco: High frequency of the mutation PSEN1 c.1292C>A and phenotypic profile of patients.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 1023, doi. 10.1002/ajmg.c.31865
By:
- Dumois‐Petersen, Sofia;
- Gallegos‐Arreola, Martha P.;
- Magaña‐Torres, María T.;
- Perea‐Díaz, Francisco J.;
- Ringman, John M.;
- Figuera, Luis E.
Publication type:
Article
Case report: Maternal tyrosinemia type 1a under NTBC treatment with tyrosine‐ and phenylalanine restricted diet in Chile.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 1009, doi. 10.1002/ajmg.c.31863
By:
- Medina, María F;
- Arias, Carolina;
- Cabello, Juan F;
- De la Parra, Alicia;
- Valiente, Alf;
- Castro, Gabriela;
- Fuenzalida, Karen;
- Cornejo, Verónica
Publication type:
Article
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 955, doi. 10.1002/ajmg.c.31860
By:
- Quaio, Caio Robledo D'Angioli Costa;
- Moreira, Caroline Monaco;
- Novo‐Filho, Gil Monteiro;
- Sacramento‐Bobotis, Patricia Rossi;
- Groenner Penna, Michele;
- Perazzio, Sandro Felix;
- Dutra, Aurelio Pimenta;
- Silva, Rafael Alves;
- Santos, Monize Nakamoto Provisor;
- Arruda, Vanessa Yurie Nozaki;
- Freitas, Vanessa Galdeno;
- Pereira, Vinícius Ceola;
- Pintao, Maria Carolina;
- Fornari, Alexandre Ricardo dos Santos;
- Buzolin, Ana Lígia;
- Oku, Andre Yuji;
- Burger, Matheus;
- Ramalho, Rodrigo Fernandes;
- Marco Antonio, David Santos;
- Ferreira, Elisa Napolitano
Publication type:
Article
An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 996, doi. 10.1002/ajmg.c.31859
By:
- Mena, Rafael;
- Mendoza, Esperanza;
- Gomez Peña, Maria;
- Valencia, C. Alexander;
- Ullah, Ehsan;
- Hufnagel, Robert B.;
- Prada, Carlos E.
Publication type:
Article
Down syndrome on a small Caribbean island: an uphill battle to obtain services and care for affected individuals.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 965, doi. 10.1002/ajmg.c.31858
By:
- Nelson, Beverly;
- Lanza‐Perea, Marta;
- Brathwaite, Jozan;
- Hyacinth, Tonya;
- Audain‐Miller, Allison;
- Pierre, Anne;
- Sobering, Andrew K.
Publication type:
Article
Genomic imbalances in craniofacial microsomia.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 970, doi. 10.1002/ajmg.c.31857
By:
- Spineli‐Silva, Samira;
- Sgardioli, Ilária C.;
- Santos, Ana P.;
- Bergamini, Luna L.;
- Monlleó, Isabella L.;
- Fontes, Marshall I. B.;
- Félix, Têmis M.;
- Ribeiro, Erlane M.;
- Xavier, Ana C.;
- Lustosa‐Mendes, Elaine;
- Gil‐da‐Silva‐Lopes, Vera L.;
- Vieira, Tarsis P.
Publication type:
Article
Genetic analysis for carrier diagnosis in hemophilia A and B in the Mexican population: 25 years of experience.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 939, doi. 10.1002/ajmg.c.31854
By:
- González‐Ramos, Isaura‐Araceli;
- Mantilla‐Capacho, Johanna‐Milena;
- Luna‐Záizar, Hilda;
- Mundo‐Ayala, Jessica‐Noemi;
- Lara‐Navarro, Irving‐Jair;
- Ornelas‐Ricardo, Diana;
- González Alcázar, José‐Ángel;
- Evangelista‐Castro, Natalia;
- Jaloma‐Cruz, Ana Rebeca
Publication type:
Article
Genetic admixture in Brazil.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 928, doi. 10.1002/ajmg.c.31853
By:
- Pena, Sergio D. J.;
- Santos, Fabrício R.;
- Tarazona‐Santos, Eduardo
Publication type:
Article
Phenotype–genotype analysis of 242 individuals with RASopathies: 18‐year experience of a tertiary center in Brazil.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 896, doi. 10.1002/ajmg.c.31851
By:
- Bertola, Débora R.;
- Castro, Matheus A. A.;
- Yamamoto, Guilherme L.;
- Honjo, Rachel S.;
- Ceroni, José Ricardo;
- Buscarilli, Michele M.;
- Freitas, Amanda B.;
- Malaquias, Alexsandra C.;
- Pereira, Alexandre C.;
- Jorge, Alexander A. L.;
- Passos‐Bueno, Maria Rita;
- Kim, Chong A.
Publication type:
Article
Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 912, doi. 10.1002/ajmg.c.31852
By:
- Gil‐da‐Silva‐Lopes, Vera Lúcia;
- Tacla, Milena Atique;
- Sgardioli, Ilária Cristina;
- Vieira, Társis Paiva;
- Monlleó, Isabella Lopes
Publication type:
Article
Human recombinant lysosomal β‐Hexosaminidases produced in Pichia pastoris efficiently reduced lipid accumulation in Tay‐Sachs fibroblasts.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 885, doi. 10.1002/ajmg.c.31849
By:
- Espejo‐Mojica, Angela J.;
- Rodríguez‐López, Alexander;
- Li, Rong;
- Zheng, Wei;
- Alméciga‐Díaz, Carlos J.;
- Dulcey‐Sepúlveda, Cindy;
- Combariza, Germán;
- Barrera, Luis A.
Publication type:
Article
The odyssey of complex neurogenetic disorders: From undetermined to positive.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 876, doi. 10.1002/ajmg.c.31848
By:
- Salinas, Valeria;
- Vega, Patricia;
- Marsili, Luca;
- Pérez‐Maturo, Josefina;
- Martínez, Nerina;
- Zavala, Lucia;
- González‐Morón, Dolores;
- Medina, Nancy;
- Rodriguez‐Quiroga, Sergio A.;
- Amartino, Hernán;
- Maxit, Clarisa;
- Sturchio, Andrea;
- Grimberg, Barbara;
- Duque, Kevin;
- Comas, Betiana;
- Silva, Walter;
- Consalvo, Damián;
- Sfaello, Ignacio;
- Espay, Alberto J.;
- Kauffman, Marcelo A.
Publication type:
Article
Publication schedule for 2020.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 872, doi. 10.1002/ajmg.c.31715
Publication type:
Article

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