Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?

por Ceroni, José RM, Yamamoto, Guilherme L, Honjo, Rachel S, Kim, Chong A, Passos-Bueno, Maria R, Bertola, Débora R
Publicado 2018

c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family

por Dantas, Vitor G.L., Lezirovitz, Karina, Yamamoto, Guilherme L., Moura de Souza, Carolina Fischinger, Ferreira, Simone Gomes, Mingroni-Netto, Regina C.
Publicado 2014

Thyroid and Breast Cancer in 2 Sisters With Monoallelic Mutations in the Ataxia Telangiectasia Mutated (ATM) Gene

por Miasaki, Fabíola Y, Saito, Kelly C, Yamamoto, Guilherme L, Boguszewski, César L, de Carvalho, Gisah A, Kimura, Edna T, Kopp, Peter A
Publicado 2022

Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report

por Cuperman, Thais, Fernandes, Stephanie A, Lourenço, Naila CV, Yamamoto, Lydia U, Silva, Helga CA, Pavanello, Rita CM, Yamamoto, Guilherme L, Zatz, Mayana, Oliveira, Acary SB, Vainzof, Mariz
Publicado 2014

Structural variation of the malaria-associated human glycophorin A-B-E region

por Louzada, Sandra, Algady, Walid, Weyell, Eleanor, Zuccherato, Luciana W., Brajer, Paulina, Almalki, Faisal, Scliar, Marilia O., Naslavsky, Michel S., Yamamoto, Guilherme L., Duarte, Yeda A. O., Passos-Bueno, Maria Rita, Zatz, Mayana, Yang, Fengtang, Hollox, Edward J.
Publicado 2020

Evidence-based Risk Stratification for Sport Medicine Procedures During the COVID-19 Pandemic

por Hinckel, Betina B., Baumann, Charles A., Ejnisman, Leandro, Cavinatto, Leonardo M., Martusiewicz, Alexander, Tanaka, Miho J., Tompkins, Marc, Sherman, Seth L., Chahla, Jorge A., Frank, Rachel, Yamamoto, Guilherme L., Bicos, James, Arendt, Liza, Fithian, Donald, Farr, Jack
Publicado 2020

Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss

por Dantas, Vitor G. L., Raval, Manmeet H., Ballesteros, Angela, Cui, Runjia, Gunther, Laura K., Yamamoto, Guilherme L., Alves, Leandro Ucela, Bueno, André Silva, Lezirovitz, Karina, Pirana, Sulene, Mendes, Beatriz C. A., Yengo, Christopher M., Kachar, Bechara, Mingroni-Netto, Regina C.
Publicado 2018

Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy

por Fernandes, Stephanie A., Almeida, Camila F., Souza, Lucas S., Lazar, Monize, Onofre-Oliveira, Paula, Yamamoto, Guilherme L., Nogueira, Letícia, Tasaki, Letícia Y., Cardoso, Rafaela R., Pavanello, Rita C. M., Silva, Helga C. A., Ferrari, Merari F. R., Bigot, Anne, Mouly, Vincent, Vainzof, Mariz
Publicado 2020

Development of a comprehensive noninvasive prenatal test

por Malcher, Carolina, Yamamoto, Guilherme L., Burnham, Philip, Ezquina, Suzana A.M., Lourenço, Naila C.V., Balkassmi, Sahilla, Antonio, David S. Marco, Hsia, Gabriella S.P., Gollop, Thomaz, Pavanello, Rita C., Lopes, Marco Antonio, Bakker, Egbert, Zatz, Mayana, Bertola, Débora, Vlaminck, Iwijn De, Passos-Bueno, Maria Rita
Publicado 2018

Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization

por Gurgel-Giannetti, Juliana, Souza, Lucas Santos, Yamamoto, Guilherme L., Belisario, Marina, Lazar, Monize, Campos, Wilson, Pavanello, Rita de Cassia M., Zatz, Mayana, Reed, Umbertina, Zanoteli, Edmar, Oliveira, Acary Bulle, Lehtokari, Vilma-Lotta, Casella, Erasmo B., Machado-Costa, Marcela C., Wallgren-Pettersson, Carina, Laing, Nigel G., Nigro, Vincenzo, Vainzof, Mariz
Publicado 2022

Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility

por Toledo, Rodrigo A, Hatakana, Roxanne, Lourenço, Delmar M, Lindsey, Susan C, Camacho, Cleber P, Almeida, Marcio, Lima, José V, Sekiya, Tomoko, Garralda, Elena, Naslavsky, Michel S, Yamamoto, Guilherme L, Lazar, Monize, Meirelles, Osorio, Sobreira, Tiago J P, Lebrao, Maria Lucia, Duarte, Yeda A O, Blangero, John, Zatz, Mayana, Cerutti, Janete M, Maciel, Rui M B, Toledo, Sergio P A
Publicado 2015

Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases

por Montenegro, Marilia M., Quaio, Caio R., Palmeira, Patricia, Gasparini, Yanca, Rangel‐Santos, Andreia, Damasceno, Julian, Novak, Estela M., Gimenez, Thamires M., Yamamoto, Guilherme L., Ronjo, Rachel S., Novo‐Filho, Gil M., Chehimi, Samar N., Zanardo, Evelin A., Dias, Alexandre T., Nascimento, Amom M., Costa, Thais V. M. M., Duarte, Alberto J. da S., Coutinho, Luiz L., Kim, Chong A., Kulikowski, Leslie D.
Publicado 2020

Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil

por Naslavsky, Michel S., Scliar, Marilia O., Yamamoto, Guilherme L., Wang, Jaqueline Yu Ting, Zverinova, Stepanka, Karp, Tatiana, Nunes, Kelly, Ceroni, José Ricardo Magliocco, de Carvalho, Diego Lima, da Silva Simões, Carlos Eduardo, Bozoklian, Daniel, Nonaka, Ricardo, dos Santos Brito Silva, Nayane, da Silva Souza, Andreia, de Souza Andrade, Heloísa, Passos, Marília Rodrigues Silva, Castro, Camila Ferreira Bannwart, Mendes-Junior, Celso T., Mercuri, Rafael L. V., Miller, Thiago L. A., Buzzo, Jose Leonel, Rego, Fernanda O., Araújo, Nathalia M., Magalhães, Wagner C. S., Mingroni-Netto, Regina Célia, Borda, Victor, Guio, Heinner, Rojas, Carlos P., Sanchez, Cesar, Caceres, Omar, Dean, Michael, Barreto, Mauricio L., Lima-Costa, Maria Fernanda, Horta, Bernardo L., Tarazona-Santos, Eduardo, Meyer, Diogo, Galante, Pedro A. F., Guryev, Victor, Castelli, Erick C., Duarte, Yeda A. O., Passos-Bueno, Maria Rita, Zatz, Mayana
Publicado 2022

Author Correction: Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil

por Naslavsky, Michel S., Scliar, Marilia O., Yamamoto, Guilherme L., Wang, Jaqueline Yu Ting, Zverinova, Stepanka, Karp, Tatiana, Nunes, Kelly, Ceroni, José Ricardo Magliocco, de Carvalho, Diego Lima, da Silva Simões, Carlos Eduardo, Bozoklian, Daniel, Nonaka, Ricardo, dos Santos Brito Silva, Nayane, da Silva Souza, Andreia, de Souza Andrade, Heloísa, Passos, Marília Rodrigues Silva, Castro, Camila Ferreira Bannwart, Mendes-Junior, Celso T., Mercuri, Rafael L. V., Miller, Thiago L. A., Buzzo, Jose Leonel, Rego, Fernanda O., Araújo, Nathalia M., Magalhães, Wagner C. S., Mingroni-Netto, Regina Célia, Borda, Victor, Guio, Heinner, Rojas, Carlos P., Sanchez, Cesar, Caceres, Omar, Dean, Michael, Barreto, Mauricio L., Lima-Costa, Maria Fernanda, Horta, Bernardo L., Tarazona-Santos, Eduardo, Meyer, Diogo, Galante, Pedro A. F., Guryev, Victor, Castelli, Erick C., Duarte, Yeda A. O., Passos-Bueno, Maria Rita, Zatz, Mayana
Publicado 2022