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Resultados de 1 a 10 de 22  para Produção Intelectual da USP

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Refinado por: assunto: Mutação Genética remover assunto: Genética Médica remover
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1
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
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Artigo 		Adicionar ao Meu Espaço

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

Annika Keller Ana Westenberger; Maria J Sobrido; Mayana Zatz

Nature Genetics New York v. 45, n. 9, sep. p. 1077-1084, 2013. p. online

New York 2013

Item não circula. Consulte sua biblioteca.(Acessar)

2
Richieri-Costa-Pereira syndrome expanding its phenotypicand genotypic spectrum
Richieri-Costa-Pereira syndrome expanding its phenotypicand genotypic spectrum
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Artigo 		Adicionar ao Meu Espaço

Richieri-Costa-Pereira syndrome expanding its phenotypicand genotypic spectrum

D R Bertola G Hsia; L Alvizi; A Gardham; E. L Wakeling; G. L Yamamoto; R. S Honjo; L. A. N Oliveira; R. C. Di Francesco; B A Perez; C A Kim; Maria Rita Passos-Bueno

Clinical Genetics Hoboken online, p. 1-12, Feb. 2018

Hoboken 2018

Localização: FM - Fac. Medicina    (OPI 26383 2018 )(Acessar)

3
Screening of TCOF1 in patients from different populations confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]
Screening of TCOF1 in patients from different populations confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]
Material Type:
Artigo 		Adicionar ao Meu Espaço

Screening of TCOF1 in patients from different populations confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]

Alessandra Splendore E. W Jabs; Maria Rita Passos-Bueno

Journal of Medical Genetics v. 39, n. 7, p. 493-495, 2002

London 2002

Item não circula. Consulte sua biblioteca.(Acessar)

4
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)
Material Type:
Artigo 		Adicionar ao Meu Espaço

A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)

Natássia M Vieira Michel Naslavsky; Luciana Licinio; Fernando Kok; David Schlesinger; Mariz Vainzof; Nury Sanchez; João Paulo Kitajima; Lihi Gal; Natale Cavaçana; Peter R Serafini; Silvia Chuartzman; Cristina Vasquez; Adriana Mimbacas; Vincenzo Nigro; Rita C Pavanello; Maya Schuldiner; Louis M Kunkel; Mayana Zatz

Human Molecular Genetics Oxford online, p. 01-018 on-line, Mar. 2014

Oxford 2014

Localização: FM - Fac. Medicina    (BCSEP 013 2014 )(Acessar)

5
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene two novel de novo balanced translocations associated with acampomelic campomelic dysplasia
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene two novel de novo balanced translocations associated with acampomelic campomelic dysplasia
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The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene two novel de novo balanced translocations associated with acampomelic campomelic dysplasia

Ana Carolina S Fonseca Adriano Bonaldi; Débora R Bertola; Chong A Kim; Paulo A Otto; Angela M Vianna-Morgante

BMC Medical Genetics London v. 14, n. 50, p. 1-10 (on-line), May 2013

London 2013

Item não circula. Consulte sua biblioteca.(Acessar)

6
Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family
Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family
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Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family

Thalita Figueiredo Uirá Souto Melo; André Luiz Santos Pessoa; Paulo Ribeiro Nobrega; João Paulo Kitajima; Igor Correa; Mayana Zatz; Fernando Kok; Silvana Santos

Journal of Medical Genetics London v. 52, n. 2, p. 123-127, Feb. 2015

London 2015

Item não circula. Consulte sua biblioteca.(Acessar)

7
Large deletion in PIGL a common mutational mechanism in CHIME syndrome?
Large deletion in PIGL a common mutational mechanism in CHIME syndrome?
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Large deletion in PIGL a common mutational mechanism in CHIME syndrome?

José R. M Ceroni Guilherme L Yamamoto; Rachel S Honjo; Chong A Kim; Maria Rita Passos-Bueno; Débora R Bertola

Genetics and Molecular Biology Ribeirão Preto online, 2018

Ribeirao Preto 2018

Localização: FM - Fac. Medicina    (BCBIB )(Acessar)

8
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome

Ricardo Di Lazzaro Filho Guilherme Lopes Yamamoto; Tiago J Silva; Leticia A Rocha; Bianca D. W Linnenkamp; Matheus Augusto Araújo Castro; Deborah Bartholdi; André Schaller; Tosso Leeb; Samantha Kelmann; Claudia Y Utagawa; Carlos E Steiner; Leandra Steinmetz; Rachel Sayuri Honjo; Chong Ae Kim; Lisa Wang; Raphaël Abourjaili-Bilodeau; Philippe M Campeau; Matthew Warma; Maria Rita Passos-Bueno; Nicolas Carlos Hoch; Débora Romeo Bertola

Journal of Medical Genetics London on-line, 2023

London 2023

Item não circula. Consulte sua biblioteca.(Acessar)

9
Screening of TCOF1 in patients from different populations confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]
Screening of TCOF1 in patients from different populations confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]
Material Type:
Artigo 		Adicionar ao Meu Espaço

Screening of TCOF1 in patients from different populations confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]

Alessandra Splendore E. W Jabs; Maria Rita Passos-Bueno

Journal of Medical Genetics v. 39, n. 7, p. 493-495, 2002

London 2002

Item não circula. Consulte sua biblioteca.(Acessar)

10
Estudo genético de pacientes portadores de cardiomiopatia hipertrófica
Estudo genético de pacientes portadores de cardiomiopatia hipertrófica
Material Type:
Tese de Doutorado 		Adicionar ao Meu Espaço

Estudo genético de pacientes portadores de cardiomiopatia hipertrófica

Marsiglia, Júlia Daher Carneiro

Biblioteca Digital de Teses e Dissertações da USP; Universidade de São Paulo; Faculdade de Medicina 2013-08-02

Acesso online. A biblioteca também possui exemplares impressos.

Resultados de 1 a 10 de 22  para Produção Intelectual da USP

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Deste Autor:

  1. Passos-Bueno, M
  2. Bertola, D
  3. Kim, C
  4. Zatz, M
  5. Yamamoto, G

Neste Assunto:

  1. Genética Médica
  2. Mutação Genética
  3. Doenças Genéticas
  4. Malformações
  5. Mutação

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

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