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Results 1 - 10 of 23  for USP Intelectual Production

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1
Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing
Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing
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Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing

Darine Villela Juliana Sobral de Barros; Silvia Souza da Costa; Talita F. M Aguiar; Francine Campagnari; Angela M Vianna-Morgante; Ana Cristina Victorino Krepischi; Carla Rosenberg

Annals of human genetics Oxford v. 85, n. 1, p. 18-26, Jan. 2021

Oxford 2021

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2
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses
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Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses

Darine Villela Patricia C Mazzonetto; Michele P Migliavacca; Eduardo Perrone; Gustavo Guida; Maria Fernanda G Milanezi; Alexander A. L Jorge; Lucilene A Ribeiro-Bicudo; Fernando Kok; Francine Campagnari; Liane de Rosso-Giuliani; Silvia Souza da Costa; Angela M Vianna-Morgante; Peter L Pearson; Ana Cristina Victorino Krepischi; Carla Rosenberg

American Journal of Medical Genetics. Part A Hoboken v. 185, n. 8, p. 2335-2344, 2021

Hoboken 2021

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3
DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation
DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation
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DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation

João V.S Guerra José Oliveira-Santos; Danyllo F Oliveira; Gabriela F Leal; João Ricardo M Oliveira; Sílvia S Costa; Ana Cristina Victorino Krepischi; Angela M Vianna-Morgante; Mariana Maschietto

European Journal of Medical Genetics Issy les Moulineaux v. 63, n. 3, art.103737, Mar. 2020

Issy les Moulineaux 2020

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4
Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability illustrative cases
Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability illustrative cases
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Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability illustrative cases

Thaise NR Carneiro Ana Cristina Victorino Krepischi; Sílvia S Costa; Israel Tojal da Silva; Angela M Vianna-Morgante; Renan Valieris; Suzana AM Ezquina; Débora R Bertola; Paulo A Otto; Carla Rosenberg

The Application of Clinical Genetics Macclesfield v. 11, p. 93-98, 2018

Macclesfield 2018

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5
Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting
Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting
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Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting

Darine Villela Silvia Souza Costa; Angela M Vianna-Morgante; Ana Cristina Victorino Krepischi; Carla Rosenberg

European Journal of Medical Genetics Issy les Moulineaux v. 60, n. 12, p. 667-674, Dec. 2017

Issy les Moulineaux 2017

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6
PLP1 duplication at the breakpoint regions of an apparently balanced t(X,22) translocation causes Pelizaeus-Merzbacher disease in a girl
PLP1 duplication at the breakpoint regions of an apparently balanced t(X,22) translocation causes Pelizaeus-Merzbacher disease in a girl
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PLP1 duplication at the breakpoint regions of an apparently balanced t(X,22) translocation causes Pelizaeus-Merzbacher disease in a girl

Ana Carolina dos Santos Fonseca Adrianao Bonaldi; Silvia Souza da Costa; M. r Freitas; Fernando Kok; Angela M Vianna-Morgante

Clinical Genetics Malden v. 83, n. 2, p. 169-174, Feb. 2013

Malden 2013

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7
Genetics and Molecular Biology
Genetics and Molecular Biology
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Genetics and Molecular Biology

Márcio de Castro Silva Filho Klaus Hartmann Hartfelder; André Luiz Paranhos Perondini; Antônio Brito da Cunha; Catarina Satie Takahashi; Fábio de Melo Sene; João Stenghel Morgante; Luís Carlos de Souza Ferreira; Paulo A Otto; Sérgio Olavo Pinto da Costa; Angela M Vianna-Morgante; Carlos Frederico Martins Menck; Luciano da Fontoura Costa; Mayana Zatz; Ricardo Guelerman Pinheiro Ramos; Yatiyo Yonenaga-Yassuda

Ribeirão Preto Sociedade Brasileira de Genética - SBG 2012

Available at IFSC - Inst. Física de São Carlos    (PROD020346 )(GetIt)

8
Genetics and Molecular Biology
Genetics and Molecular Biology
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Genetics and Molecular Biology

Márcio de Castro Silva Filho Klaus Hartmann Hartfelder; Antônio Brito da Cunha; Luiz Edmundo de Magalhães; Oswaldo Frota Pessoa; André Luiz Paranhos Perondini; Angela M Vianna-Morgante; Carlos Frederico Martins Menck; Catarina Satie Takahashi; Emmanuel Dias Neto; Fábio de Melo Sene; João Stenghel Morgante; Luís Carlos de Souza Ferreira; Luciano da Fontoura Costa; Mayana Zatz; Paulo A Otto; Ricardo Guelerman Pinheiro Ramos; Sérgio Olavo Pinto da Costa; Yatiyo Yonenaga-Yassuda

Ribeirão Preto Sociedade Brasileira de Genética - SBG 2011

Available at IFSC - Inst. Física de São Carlos    (PROD019007 )(GetIt)

9
Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome
Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome
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Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome

Adriano Bonaldi Juliana Forte Mazzeu; Silvia Souza da Costa; Rachel Sayuri Honjo; Débora Romeo Bertola; Lilian Maria José Albano; Isabel M Furquim; Chong A Kim; Angela Maria Vianna-Morgante

American Journal of Medical Genetics Part A Hoboken v. 155, n. 10, p. 2479-2483, Oct. 2011

Hoboken 2011

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10
Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome
Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome
Material Type:
Article 		Add to e-Shelf

Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome

Adriano Bonaldi Juliana Forte Mazzeu; Silvia Souza da Costa; Rachel Sayuri Honjo; Débora Romeo Bertola; Lilian Maria José Albano; Isabel M Furquim; Chong A Kim; Angela M Vianna-Morgante

American Journal of Medical Genetics Part A Hoboken v. 155, n. 10, p. 2479-2483, Oct. 2011

Hoboken 2011

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Results 1 - 10 of 23  for USP Intelectual Production

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