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Refinado por: assunto: Mutação Genética remover
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1
Novel mutations and genotype:phenotype correlation in Charlot-Marie-Tooth type 1B (CMT1B)
Novel mutations and genotype:phenotype correlation in Charlot-Marie-Tooth type 1B (CMT1B)
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Novel mutations and genotype:phenotype correlation in Charlot-Marie-Tooth type 1B (CMT1B)

Kikue Terada Abe M. T Magrin; Rita de Cássia M Pavanello; Paulo Eurípedes Marchiori; Mayana Zatz; Annual Meeting of the American Society of Human Genetics (53. 2003 Los Angeles)

American Journal of Human Genetics Baltimore v. 73, n. 5, suppl., p. 567, 2003

Baltimore 2003

Item não circula. Consulte sua biblioteca.(Acessar)

2
Screening of patients with trigonocephaly with markers from the 9p and 11q regions
Screening of patients with trigonocephaly with markers from the 9p and 11q regions
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Screening of patients with trigonocephaly with markers from the 9p and 11q regions

Fernanda Sarquis Jehee D Johnson; L Alonso; K Abe; N Alonso; Hamilton Matushita; C Kim; S Cavalheiro; S. A Wall; A. O. M Wilkie; Maria Rita Passos-Bueno; Annual Meeting of the American Society of Human Genetics (52. 2002 Baltimore)

Abstracts v. 71, n. 4, suppl., p. 514 res.2017, oct. 2002

Baltimore 2002

Item não circula. Consulte sua biblioteca.(Acessar)

3
A novel stop codon mutation in the PMP22 gene associated with a variable phenotype
A novel stop codon mutation in the PMP22 gene associated with a variable phenotype
Material Type:
Artigo 		Adicionar ao Meu Espaço

A novel stop codon mutation in the PMP22 gene associated with a variable phenotype

Kikue Terada Abe A. M. M Lino; M. T. A Hirata; Rita de Cássia M Pavanello; Mário Wilson Iervolino Brotto; Paulo Eurípedes Marchiori; Mayana Zatz

Neuromuscular Disorders v. 14, n. 5, p. 313-320, 2004

Amsterdam 2004

Acesso online

4
A novel stop codon mutation in the PMP22 gene associated with a variable phenotype
A novel stop codon mutation in the PMP22 gene associated with a variable phenotype
Material Type:
Artigo 		Adicionar ao Meu Espaço

A novel stop codon mutation in the PMP22 gene associated with a variable phenotype

Kikue Terada Abe A. M. M Lino; M. T. A Hirata; Rita de Cássia M Pavanello; Mário Wilson Iervolino Brotto; Paulo Eurípedes Marchiori; Mayana Zatz

Neuromuscular Disorders v. 14, n. 5, p. 313-320, 2004

Amsterdam 2004

Acesso online

5
Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2
Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2
Material Type:
Artigo 		Adicionar ao Meu Espaço

Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2

Maria Rita Passos-Bueno Lúcia Maria Libório Armelin; Luís Garcia Alonso; Isaac Neustein; Andréa Laurato Sertié; Kikue Terada Abe; Rita de Cássia M Pavanello; Livia Cunha Elkis; Celia Priszkulnik Koiffmann

American Journal of Medical Genetics v. 113, p. 200-206, 2002

New York 2002

Item não circula. Consulte sua biblioteca.(Acessar)

6
Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2
Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2
Material Type:
Artigo 		Adicionar ao Meu Espaço

Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2

Maria Rita Passos-Bueno Lúcia Maria Libório Armelin; Luís Garcia Alonso; Isaac Neustein; Andréa Laurato Sertié; Kikue Terada Abe; Rita de Cássia M Pavanello; Livia Cunha Elkis; Célia Priszkulnik Koiffmann

American Journal of Medical Genetics v. 113, p. 200-206, 2002

New York 2002

Item não circula. Consulte sua biblioteca.(Acessar)

7
Regulatory variants of FOXG1 in the context of its topological domain organisation
Regulatory variants of FOXG1 in the context of its topological domain organisation
Material Type:
Artigo 		Adicionar ao Meu Espaço

Regulatory variants of FOXG1 in the context of its topological domain organisation

Mana M Mehrjouy Ana Carolina S Fonseca; Nadja Ehmke; Giorgio Paskulin; Antonio Novelli; Francesco Benedicenti; Maria Antonietta Mencarelli; Alessandra Renieri; Tiffany Busa; Chantal Missirian; Claus Hansen; Kikue Terada Abe; Carlos Eduardo Speck-Martins; Angela M Vianna-Morgante; Mads Bak; Niels Tommerup

European Journal of Human Genetics London online, Dec. 2017

London 2017

Item não circula. Consulte sua biblioteca.(Acessar)

8
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1
Material Type:
Artigo 		Adicionar ao Meu Espaço

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

Mark Depner Sebastian Fuchs; Jan Raabe; Natalie Frede; Cristina Glocker; Rainer Doffinger; Effrossyni Gkrania-Klotsas; Dinakantha Kumararatne; T. Prescott Atkinson; Harry W Schroeder Jr.; Tim Niehues; Gregor Dückers; Asbjørg Stray-Pedersen; Ulrich Baumann; Reinhold Schmidt; Jose L Franco; Julio Orrego; Moshe Ben-Shoshan; Christine McCusker; Cristina Miuki Abe Jacob; Magda Carneiro-Sampaio; Lisa A Devlin; J. David M Edgar; Paul Henderson; Richard K Russell; Anne-Bine Skytte; Suranjith L Seneviratne; Jennifer Wanders; Hans Stauss; Isabelle Meyts; Leen Moens; Milos Jesenak; Robin Kobbe; Stephan Borte; Michael Borte; Dowain A Wright; David Hagin; Troy R Torgerson; Bodo Grimbacher

Journal of Clinical Immunology New York : Springer v. 36, n. 1, p. 73-84, 2016

New York 2016

Localização: FM - Fac. Medicina    (BCSEP 064 2016 )(Acessar)

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Deste Autor:

  1. Abe, K
  2. Pavanello, R
  3. Marchiori, P
  4. Passos-Bueno, M
  5. Zatz, M

Neste Assunto:

  1. Doenças Genéticas
  2. Craniossinostose
  3. Eletrofisiologia
  4. Distrofia Muscular
  5. Cromossomos

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

Buscando em bases de dados remotas. Favor aguardar.