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1
Retrospective study on the impact of diagnosis and genetic counseling in neuromuscular diseases
Retrospective study on the impact of diagnosis and genetic counseling in neuromuscular diseases
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Retrospective study on the impact of diagnosis and genetic counseling in neuromuscular diseases

S. Eggers Mayana Zatz; R C M Pavanello; International Congress of Human Genetics (8. 1991 Washington)

v.49, n.4 suppl., p.311, oct. 1991 American Journal of Human Genetics

1991

Item não circula. Consulte sua biblioteca.(Acessar)

2
Autosomal form of dominant familial spastic paraplegia affecting almost exclusively males
Autosomal form of dominant familial spastic paraplegia affecting almost exclusively males
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Autosomal form of dominant familial spastic paraplegia affecting almost exclusively males

M Zatz Maria Rita Passos-Bueno; D Ungar; Annual Meeting of the American Society of Human Genetics (45. 1995 Minneapolis)

v.57, n.4 suppl., p.a106, oct. 1995 American Journal of Human Genetics

1995

Item não circula. Consulte sua biblioteca.(Acessar)

3
Linkage analysis in a large brazilian family with knobloch syndrome
Linkage analysis in a large brazilian family with knobloch syndrome
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Linkage analysis in a large brazilian family with knobloch syndrome

Maria Rita Passos-Bueno A L Sertie; M Quimby; J Murray; Suely Kazue Nagahashi Marie; M Zatz; Annual Meeting of the American Society of Human Genetics (45. 1995 Minneapolis)

v.57, n.4 suppl., p.a333, oct. 1995 American Journal of Human Genetics

1995

Item não circula. Consulte sua biblioteca.(Acessar)

4
Negative intraindividual correlation for the trinucleotide repeat size in five dynamic loci from the normal population
Negative intraindividual correlation for the trinucleotide repeat size in five dynamic loci from the normal population
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Negative intraindividual correlation for the trinucleotide repeat size in five dynamic loci from the normal population

Mayana Zatz P Iughetti; D Sumita; Paulo A Otto; A M P Cerqueira; Maria Rita Passos-Bueno; Annual Meeting of the American Society of Human Genetics (46. 1996 San Francisco)

v.59, n.4 suppl., p.1108, 1996 American Journal of Human Genetics

1996

Item não circula. Consulte sua biblioteca.(Acessar)

5
Evidence of further genetic heterogeneity for both autosomal dominant and autosomal recessive limb-girdle muscular dystrophy
Evidence of further genetic heterogeneity for both autosomal dominant and autosomal recessive limb-girdle muscular dystrophy
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Evidence of further genetic heterogeneity for both autosomal dominant and autosomal recessive limb-girdle muscular dystrophy

A. L. Starling Mariz Vainzof; Rita de Cássia M Pavanello; M Canovas; A Cerqueira; Maria Rita Passos-Bueno; Mayana Zatz; Annual Meeting of the American Society of Human Genetics (51. 2001 San Diego)

American Journal of Human Genetics Chicago v. 69, n. 4, suppl., p. 513, oct. 2001

Chicago 2001

Item não circula. Consulte sua biblioteca.(Acessar)

6
Physical and genetic mapping at the limb-girdle muscular dystrophy locus on chromosome 2p13
Physical and genetic mapping at the limb-girdle muscular dystrophy locus on chromosome 2p13
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Physical and genetic mapping at the limb-girdle muscular dystrophy locus on chromosome 2p13

R Bashir T Strachan; S Keers; Mayana Zatz; Maria Rita Passos-Bueno; J Weissenbach; D Paslier; M Meisler; K Bushby; Annual Meeting of the American Society of Human Genetics (45. 1995 Minneapolis)

v.57, n.4 suppl., p.a207, oct. 1995 American Journal of Human Genetics

1995

Item não circula. Consulte sua biblioteca.(Acessar)

7
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)

8
Muscle proteins alteration in patients with mutations in the Fukutin-Related protein gene
Muscle proteins alteration in patients with mutations in the Fukutin-Related protein gene
Material Type:
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Muscle proteins alteration in patients with mutations in the Fukutin-Related protein gene

L. U. Yamamoto Marta Canovas; Rita de Cássia M Pavanello; B. L Lima; F de Paula; N Vieira; Mayana Zatz; Mariz Vainzof; 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. 556, 2003

2003

Item não circula. Consulte sua biblioteca.(Acessar)

9
Six novel point mutations in the dystrophin gene identified in Brazilian Duchenne patients
Six novel point mutations in the dystrophin gene identified in Brazilian Duchenne patients
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Six novel point mutations in the dystrophin gene identified in Brazilian Duchenne patients

Dulci do Nascimento Fonseca Vagenas A Cerqueira; A Torres; Rita de Cássia M Pavanello; Maria Rita Passos-Bueno; Mayana Zatz; Annual Meeting of the American Society of Human Genetics (51. 2001 San Diego)

American Journal of Human Genetics v. 69, n. 4, suppl., p. 442, oct. 2001

Chicago 2001

Item não circula. Consulte sua biblioteca.(Acessar)

10
Possible digenic for limb girdle muscular dystropy
Possible digenic for limb girdle muscular dystropy
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Possible digenic for limb girdle muscular dystropy

Alessandra Starling F de Paula; Rita de Cássia M Pavanello; Mariz Vainzof; 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. 481, 2003

Baltimore 2003

Item não circula. Consulte sua biblioteca.(Acessar)

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