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Refinado por: autor: Passos-Bueno, M remover
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1
Schinzel–Giedion syndrome in two Brazilian patients report of a novel mutation in SETBP1 and literature review of the clinical features
Schinzel–Giedion syndrome in two Brazilian patients report of a novel mutation in SETBP1 and literature review of the clinical features
Material Type:
Artigo 		Adicionar ao Meu Espaço

Schinzel–Giedion syndrome in two Brazilian patients report of a novel mutation in SETBP1 and literature review of the clinical features

Ellaine Carvalho Rachel Honjo; Monize Magalhães; Guilherme Yamamoto; Katia Rocha; Michel Naslavsky; Mayana Zatz; Maria Rita Passos-Bueno; Chong Kim

American Journal of Medical Genetics New York p. on-line., 2015

New York 2015

Item não circula. Consulte sua biblioteca.(Acessar)

2
Pathogenic loss of function in genes associated to monogenic pediatric disorders in healthy elderly Brazilians improves molecular diagnosis interpretation
Pathogenic loss of function in genes associated to monogenic pediatric disorders in healthy elderly Brazilians improves molecular diagnosis interpretation
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Pathogenic loss of function in genes associated to monogenic pediatric disorders in healthy elderly Brazilians improves molecular diagnosis interpretation

Michel Naslavsky Guilherme Lopes Yamamoto; M. O Scliar; J Wang; Yeda Aparecida de Oliveira Duarte; Maria Rita Passos-Bueno; Mayana Zatz; ASHG Annual Meeting 2019 Houston

ASHG 2019 Annual Meeting Abstracts Houston, 2019

Houston 2019

Acesso online

3
Cancer mutations in healthy admixed elderly can we improve pathogenicity interpretation?
Cancer mutations in healthy admixed elderly can we improve pathogenicity interpretation?
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Cancer mutations in healthy admixed elderly can we improve pathogenicity interpretation?

Michel Naslavsky Guilherme Lopes Yamamoto; Suzana Ezquina; Yeda Aparecida de Oliveira Duarte; Maria Rita Passos-Bueno; Mayana Zatz; ASHI Annual Meeting Oct. 2018 Baltimore, Maryland 44

ASHI 44th Annual Meeting (2018) Abstracts Baltimore, Maryland, 2018

Baltimore 2018

Item não circula. Consulte sua biblioteca.(Acessar)

4
Rare variants in the epithelial cadherin gene underlying the genetic etiology of nonsyndromic cleft lip with or without cleft palat
Rare variants in the epithelial cadherin gene underlying the genetic etiology of nonsyndromic cleft lip with or without cleft palat
Material Type:
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Rare variants in the epithelial cadherin gene underlying the genetic etiology of nonsyndromic cleft lip with or without cleft palat

Luciano Abreu Brito Guilherme Lopes Yamamoto; Soraia Melo; Carolina Malcher; Simone Gomes Ferreira; Joana Figueiredo; Lucas Alvizi; Gerson Shigeru Kobayashi; Michel Naslavsky; Nivaldo Alonso; Temis Maria Felix; Mayana Zatz; Raquel Seruca; Maria Rita Passos-Bueno

Human Mutation Hoboken p. on-line, 2015

Hoboken 2015

Localização: FM - Fac. Medicina    (BCSEP 470 2015 )(Acessar)

5
Structural variation of the malaria-associated human glycophorin A-B-E region
Structural variation of the malaria-associated human glycophorin A-B-E region
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Structural variation of the malaria-associated human glycophorin A-B-E region

Sandra Louzada Walid Algady; Eleanor Weyell; Luciana W Zuccherato; Paulina Brajer; Faisal Almalki; Marilia O Scliar; Michel Naslavsky; Guilherme L Yamamoto; Yeda Aparecida de Oliveira Duarte; Maria Rita Passos-Bueno; Mayana Zatz; Fengtang Yang; Edward J Hollox

BMC Genomics London v. 21, artigo n. 446, 2020

London 2020

Item não circula. Consulte sua biblioteca.(Acessar)

6
TCF7L2 rs7903146 polymorphism association with diabetes and obesity in an elderly cohort from Brazil
TCF7L2 rs7903146 polymorphism association with diabetes and obesity in an elderly cohort from Brazil
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TCF7L2 rs7903146 polymorphism association with diabetes and obesity in an elderly cohort from Brazil

Lais Bride Michel Naslavsky; Guilherme Lopes Yamamoto; Marilia Scliar; Lucia H. S Pimassoni; Paola Sossai Aguiar; Flavia de Paula; Jaqueline Wang; Yeda Aparecida de Oliveira Duarte; Maria Rita Passos-Bueno; Mayana Zatz; Flávia Imbroisi Valle Errera

PeerJ London v. 9, e11349, 2021

London 2021

Item não circula. Consulte sua biblioteca.(Acessar)

7
Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals
Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals
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Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals

Michel Naslavsky Marília O Scliar; Kelly Nunes; Jaqueline Y. T Wang; Guilherme L Yamamoto; Heinner Guio; Eduardo Tarazona-Santos; Yeda Aparecida de Oliveira Duarte; Maria Rita Passos-Bueno; Diogo Meyer; Mayana Zatz

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics Hoboken on-line

Hoboken 2021

Item não circula. Consulte sua biblioteca.(Acessar)

8
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

Localização: EE - Escola de Enfermagem    (DUARTE, Y. A. de O. doc 192e ) e outros locais(Acessar)

9
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
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Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome

Guilherme Lopes Yamamoto Meire Aguena; Monika Gos; Christina Hung; Jacek Pilch; Somayyeh Fahiminiya; Anna Abramowicz; Ingrid Cristian; Michelle Buscarilli; Michel Naslavsky; Alexsandra C Malaquias; Mayana Zatz; Olaf Bodamer; Jacek Majewski; Alexander A. L Jorge; Alexandre C Pereira; Chong Ae Kim; Maria Rita Passos-Bueno; Débora Romeo Bertola

Journal of Medical Genetics London v. 52, n. 6, p. 413-421, 2015

London 2015

Acesso online. A biblioteca também possui exemplares impressos.

10
Tracking major histocompatibility complex mapping and genotyping errors when using conventional read aligners
Tracking major histocompatibility complex mapping and genotyping errors when using conventional read aligners
Material Type:
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Tracking major histocompatibility complex mapping and genotyping errors when using conventional read aligners

Andréia da Silva Souza Thálitta Hetamaro Ayala Lima; Heloisa de Souza Andrade; Emiliana Weiss; Nayane dos Santos Brito Silva; Marília Rodrigues Silva Passos; Camila Ferreira Bannwart Castro; Jaqueline Wang; Marilia O Scliar; Guilherme Lopes Yamamoto; Yeda Aparecida de Oliveira Duarte; Mayana Zatz; Michel Naslavsky; Maria Rita Passos-Bueno; Diogo Meyer; Celso Teixeira Mendes Júnior; Erick C Castelli; Brazilian Congress of Genetics (65. 2019 Águas de Lindóia)

Resumos Águas de Lindóia : Sociedade Brasileira de Genética, 2019

Águas de Lindóia Sociedade Brasileira de Genética 2019

Acesso online. A biblioteca também possui exemplares impressos.

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Deste Autor:

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

Neste Assunto:

  1. Idosos
  2. Sequenciamento Genético
  3. Covid-19
  4. Infecções Por Coronavirus
  5. Gêmeos

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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