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1
Further evidence of the importance of RIT1 in Noonan syndrome
Further evidence of the importance of RIT1 in Noonan syndrome
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Further evidence of the importance of RIT1 in Noonan syndrome

Débora Romeo Bertola Guilherme L Yamamoto; Tatiana F Almeida; Michele Buscarilli; Alexander A L Jorge; Alexsandra C Malaquias; Chong A Kim; Vanessa N. V Takahashi; Maria Rita Passos-Bueno; Alexandre C Pereira

American Journal of Medical Genetics Part A Hoboken online, p. 1-6, Aug. 2014

Hoboken 2014

Available at FM - Fac. Medicina    (BCSEP 171 2014 )(GetIt)

2
Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy
Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy
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Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy

Guilherme L. Yamamoto Wagner A. R Baratela; Tatiana F Almeida; Monize Lazar; Clara L Afonso; Maria K Oyamada; Lisa Suzuki; Luiz A. N Oliveira; Ester Silveira Ramos; Chong Ae Kim; Maria Rita Passos-Bueno; Débora Romeo Bertola

American Journal of Human Genetics Cambridge v. 94, n. 1, p. 113-119, 2014

Cambridge 2014

Available at FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2466445 Estantes Deslizantes )(GetIt)

3
Manifesting carriers of X-linked myotubular myopathy Genetic modifiers modulating the phenotype
Manifesting carriers of X-linked myotubular myopathy Genetic modifiers modulating the phenotype
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Manifesting carriers of X-linked myotubular myopathy Genetic modifiers modulating the phenotype

Lucas Santos Souza Camila Freitas Almeida; Guilherme Lopes Yamamoto; Rita de Cassia Mingroni Pavanello; Juliana Gurgel-Giannetti; Silvia Souza da Costa; Isabela Pessa Anequini; Silvana Amanda do Carmo; Jaqueline Yu Ting Wang; Edmar Zanoteli

Neurology-genetics v. 6, n. 5, article ID e513, 9p, 2020

Philadelphia 2020

Online access. The library also has physical copies.

4
Exomic variants of an elderly cohort of Brazilians in the ABraOM database
Exomic variants of an elderly cohort of Brazilians in the ABraOM database
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Exomic variants of an elderly cohort of Brazilians in the ABraOM database

Michel Naslavsky Guilherme Lopes Yamamoto; Tatiana Ferreira de Almeida; Suzana A. M Ezquina; Daniele Yumi Sunaga; Nam Pho; Daniel Bozoklian; Tatiana Orli Milkewitz Sandberg; Luciano Abreu Brito; Monize Lazar; Danilo Vicensotto Bernardo; Edson Amaro Jr.; Yeda Aparecida de Oliveira Duarte; Maria Lúcia Lebrão; Maria Rita Passos-Bueno; Mayana Zatz

Human Mutation Hoboken online, p. 1-13, Apr. 2017

Hoboken 2017

Available at EE - Escola de Enfermagem    (DUARTE, Y. A. de O. doc 192e ) and other locations(GetIt)

5
Meta-analyses support previous and novel autism candidate genes outcomes of an unexplored Brazilian cohort
Meta-analyses support previous and novel autism candidate genes outcomes of an unexplored Brazilian cohort
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Meta-analyses support previous and novel autism candidate genes outcomes of an unexplored Brazilian cohort

Eduarda Morgana da Silva Montenegro Claudia Samogy Costa; Gabriele Campos; Marília Scliar; Tatiana Ferreira de Almeida; Elaine Cristina Zachi; Isabela Maya Wahys Silva; Ada J. S Chan; Mehd Zarrei; Naila C. V Lourenço; Guilherme Lopes Yamamoto; Stephen Scherer; Maria Rita Passos-Bueno

Autism Research (Online) Hoboken v. 13, n. 2, p. 199-206, Feb. 2020

Hoboken 2020

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6
Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility
Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility
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Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility

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

Endocrine - Related Cancer Woodlands v. 22, n. 2, Apri.

Woodlands 2015

Available at FM - Fac. Medicina    (BCSEP 074 2015 )(GetIt)

7
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
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
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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

Thais Cuperman Stephanie A Fernandes; Naila Cristina Vilaça Lourenço; Lydia Uraco Yamamoto; Helga Cristina Almeida da Silva; Rita de Cássia M Pavanello; Guilherme L Yamamoto; Mayana Zatz; Acary S. B Oliveira; Mariz Vainzof

BMC Research Notes London v. 7, art. 487, p. 1-5, Aug. 2014

London 2014

Online access

8
Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells
Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells
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Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells

Luiz Carlos Caires-Júnior Ernesto Goulart; Uirá Souto Melo; Bruno Silva Henrique Araujo; Lucas Alvizi; Alessandra Soares Schanoski; Danyllo Felipe de Oliveira; Gerson Shigeru Kobayashi; Karina Griesi-Oliveira; Camila Manso Musso; Murilo Sena Amaral; Lucas Ferreira da Silva; Renato Mancini Astray; Sandra Fernanda Suárez-Patiño; Daniella Cristina Ventini Monteiro; Sérgio Gomes da Silva; Guilherme Lopes Yamamoto; Suzana Ezquina; Michel Naslavsky; Kayque Telles Alves Silva; Karina Weinmann; Vanessa van der Linden; Helio Van der Linden; João Mendes Ricardo de Oliveira; Nivia Rodrigues Maria Arrais; Adriana Melo; Thalita Figueiredo; Silvana Santos; Joanna Goes Castro Meira; Saulo Duarte Passos; Roque Pacheco de Almeida; Ana Jovina Barreto Bispo; Esper Abrão Cavalheiro; Jorge Kalil; Edécio Cunha-Neto; Helder Takashi Imoto Nakaya; Robert Andreata Santos; Luís Carlos de Souza Ferreira; Sergio Verjovski-Almeida; Paulo Lee Ho; Maria Rita Passos-Bueno; Mayana Zatz

Nature Communications London v. 9, art. 475, p. 1-11, Feb. 2018

London 2018

Available at FM - Fac. Medicina    (OPI 26264 2018 ) and other locations(GetIt)

9
Publisher Correction Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells
Publisher Correction Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells
Material Type:
Article 		Add to e-Shelf

Publisher Correction Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells

Luiz Carlos Caires-Júnior Ernesto Goulart; Uirá Souto Melo; Bruno Silva Henrique Araujo; Lucas Alvizi; Alessandra Soares Schanoski; Danyllo Felipe de Oliveira; Gerson Shigeru Kobayashi; Karina Griesi-Oliveira; Camila Manso Musso; Murilo Sena Amaral; Lucas Ferreira da Silva; Renato Mancini Astray; Sandra Fernanda Suarez Patiño; Daniella Cristina Ventini Monteiro; Sérgio Gomes da Silva; Guilherme Lopes Yamamoto; Suzana Ezquina; Michel Naslavsky; Kayque Telles Alves Silva; Karina Weinmann; Vanessa van der Linden; Helio Van der Linden; João Mendes Ricardo de Oliveira; Nivia Rodrigues Maria Arrais; Adriana Melo; Thalita Figueiredo; Silvana Santos; Joanna Goes Castro Meira; Saulo Duarte Passos; Roque Pacheco de Almeida; Ana Jovina Barreto Bispo; Esper Abrão Cavalheiro; Jorge Kalil; Edécio Cunha-Neto; Helder Takashi Imoto Nakaya; Robert Andreata Santos; Luís Carlos de Souza Ferreira; Sergio Verjovski-Almeida; Paulo Lee Ho; Maria Rita Passos-Bueno; Mayana Zatz

Nature Communications London v. 9, art. 1114, p. 1-2, Mar. 2018

London 2018

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by this author/creator:

  1. Yamamoto, G
  2. Passos-Bueno, M
  3. Zatz, M
  4. Almeida, T
  5. Naslavsky, M

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