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1
Genomic structure and exclusion of two candidate genes for the PKHD1 locus and three new polymorphic markers within the critical interval
Genomic structure and exclusion of two candidate genes for the PKHD1 locus and three new polymorphic markers within the critical interval
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Genomic structure and exclusion of two candidate genes for the PKHD1 locus and three new polymorphic markers within the critical interval

Luiz Fernando Onuchic Y Hofmann; M Mrug; J Becker; M. P Dixit; E. D Avner; S Somlo; K Zerres; L. M Guay-Woodford Germino. G. G.; Annual Meeting and 1999 Renal Week (32. 1999 Florida)

Journal of the American Society of Nephrology Florida v. 10, n. supl., p. 423 res. 2133, 1999

Florida 1999

Localização: FM - Fac. Medicina    (BCSEP 99159 ) e outros locais(Acessar)

2
PKHD1 gene expression profile in mouse kidney
PKHD1 gene expression profile in mouse kidney
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

PKHD1 gene expression profile in mouse kidney

A C Nunes R Boddu; F S Messias; J Martins Silva; G G Germino; J C Bittencourt; L M Guay-Woodford; Luiz Fernando Onuchic; Simpósio "Avanços em Pesquisas Médicas dos Laboratórios de Investigação Médica do Hospital das Clínicas da FMUSP" (4. 2010 São Paulo, SP); Symposium "Advances in Medical Research of the Medical Investigation Laboratories of Hospital das Clínicas da Faculdade de Medicina da USP" (4. 2010 São Paulo, SP)

Clinics São Paulo v. 65, supl.6, p. S71-S72, res. 73, 2010

São Paulo 2010

Localização: FM - Fac. Medicina    (BCBIB 2010 ) e outros locais(Acessar)

3
A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6
A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6
Material Type:
Artigo 		Adicionar ao Meu Espaço

A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6

Jong Hoon Park Mehul P Dixit; Luiz Fernando Onuchic; Guanqing Wu; Andrey N Goncharuk; Susanne Kneitz; Lorenzo B Santarine; Tomohito Hayashi; Ellis D Avner; Lisa Guay-Woodford; Klaus Zerres; Gregory G Germino; Stefan Somlo

Genomics v. 57, p. 249-255, 1999

1999

Localização: FM - Fac. Medicina    (BC SEP99105 )(Acessar)

4
Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2(beta), and GSTA1 at 6p21.1-p12
Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2(beta), and GSTA1 at 6p21.1-p12
Material Type:
Artigo 		Adicionar ao Meu Espaço

Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2(beta), and GSTA1 at 6p21.1-p12

Gabi Mücher Jutta Becker; Michael Knapp; Reinhard Büttner; Markus Moser; Sabine Rudnik-Schöneborn; Stefan Somlo; Greg Germino; Luiz Fernando Onuchic; Ellis Avner; Lisa Guay-Woodford; Klaus Zerres

Genomics v. 48, p. 40-45, 1998

Duluth 1998

Localização: FM - Fac. Medicina    (BCSEP 98244 )(Acessar)

5
A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6
A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6
Material Type:
Artigo 		Adicionar ao Meu Espaço

A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6

Jong Hoon Park Mehul P Dixit; Luiz Fernando Onuchic; Guanqing Wu; Andrey N Goncharuk; Susanne Kneitz; Lorenzo B Santarine; Tomohito Hayashi; Ellis D Avner; Lisa Guay-Woodford; Klaus Zerres; Gregory G Germino; Stefan Somlo

Genomics v. 57, p. 249-255, 1999

1999

Localização: FM - Fac. Medicina    (BC SEP99105 )(Acessar)

6
Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for atosomal recessive polycystic kidney disease
Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for atosomal recessive polycystic kidney disease
Material Type:
Artigo 		Adicionar ao Meu Espaço

Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for atosomal recessive polycystic kidney disease

Yvonne Hofmann Jutta Becker; Felicia Wright; Ellis D Avner; Michal Mrug; Lisa M Guay Woodford; Stefan Somlo; Klaus Zerres; Gregory G Germino; Luiz Fernando Onuchic

European Journal of Human Genetics n. 8, p. 163-6, 2000

2000

Localização: FM - Fac. Medicina    (BCSEP 2000 187 )(Acessar)

7
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)
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Artigo 		Adicionar ao Meu Espaço

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)

Carsten Bergmann Jan Senderek; Fabian Kupper; Frank Schneider; Christian Dornia; Ellen Windelen; Thomas Eggermann; Sabine Rudnik-Schoneborn; Jutta Kirfel; Laszlo Furu; Luiz F Onuchic; Sandro Rossetti; Peter C Harris; Stefan Somlo; Lisa Guay-Woodford; Gregory G Germino; Markus Moser; Reinhard Buttner; Klaus Zerresm

Human mutation New York v. 23, n. 5, p. 453-463, 2004

New York 2004

Acesso online. A biblioteca também possui exemplares impressos.

8
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)
Material Type:
Artigo 		Adicionar ao Meu Espaço

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)

Carsten Bergmann Jan Senderek; Beate Sedlacek; Ioannis Pegiazoglou; Patricia Puglia; Thomas Eggermann; Sabine Rudnick-Schöneborn; Laszlo Furu; Monica de Baca; Gregory Germino; Lisa Guay-Woodford; Stefan Somlo; Markus Moser; Reinhard Büttner; Klaus Zerres; Luiz Fernando Onuchic; Accredited Sponsor: The American Society of Nephrology (1. 2003 San Diego)

Journal of the American Society of Nephrology Philadelphia, 2003 v. 14

Philadelphia 2003

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

9
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutation
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutation
Material Type:
Artigo 		Adicionar ao Meu Espaço

Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutation

Laszlo Furu Jan Senderek; Ali Gharavi; Xiaoying Hou; Ernie L Esquivel; Yasuyuki Nagasawa; Ellis Avner; Gregory Germino; Lisa Guay-Woodford; Stefan Somlo; Reinhard Büttner; Klaus Zerres; Luiz Fernando Onuchic; Accredited Sponsor: The American Society of Nephrology (1. 2003 San Diego)

Journal of the American Society of Nephrology Philadelphia, 2003 v. 14

Philadelphia 2003

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

10
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutation
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutation
Material Type:
Artigo 		Adicionar ao Meu Espaço

Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutation

Laszlo Furu Jan Senderek; Ali Gharavi; Xiaoying Hou; Ernie L Esquivel; Yasuyuki Nagasawa; Ellis Avner; Gregory Germino; Lisa Guay-Woodford; Stefan Somlo; Reinhard Büttner; Klaus Zerres; Luiz Fernando Onuchic; Accredited Sponsor: The American Society of Nephrology (1. 2003 San Diego)

Journal of the American Society of Nephrology Philadelphia, 2003 v. 14

Philadelphia 2003

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

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Deste Autor:

  1. Guay Woodford, L
  2. Onuchic, L
  3. Germino, G
  4. Somlo, S
  5. Zerres, K

Neste Assunto:

  1. Nefrologia
  2. Genes
  3. Genética
  4. Aminoácidos
  5. Nefropatias

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

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