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Refinado por: autor: Vianna-Morgante, A remover
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1
Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants
Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants
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Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants

Luiza D Chaves Laura M. L Carvalho; Giovanna C Tolezano; Sara F Pires; Silvia S Costa; Marília O. de Scliar; Liane de R Giuliani; Débora Romeo Bertola; Cíntia B Santos-Rebouças; Go Hun Seo; Paulo A Otto; Carla Rosenberg; Angela M Vianna-Morgante; Ana Cristina Victorino Krepischi

Molecular Neurobiology Heidelberg v. 60, p. 3758–3769, 2023

Heidelberg 2023

Item não circula. Consulte sua biblioteca.(Acessar)

2
Copy number alterations in hepatoblastoma literature review and a brazilian cohort analysis highlight new biological pathways
Copy number alterations in hepatoblastoma literature review and a brazilian cohort analysis highlight new biological pathways
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Copy number alterations in hepatoblastoma literature review and a brazilian cohort analysis highlight new biological pathways

Juliana Sobral Barros Talita Ferreira Marques Aguiar; Silvia Souza Costa; Maria Prates Rivas; Monica Cypriano; Silvia Regina Caminada Toledo; Estela Maria Novak; Vicente Odone; Lilian Maria Cristofani; Dirce Maria Carraro; Isabela Werneck da Cunha; Cecília Maria Lima Costa; Angela M Vianna-Morgante; Carla Rosenberg; Ana Cristina Victorino Krepischi

Frontiers in Plant Science Lausanne v. 11, Article 741526, 2021

Lausanne 2021

Item não circula. Consulte sua biblioteca.(Acessar)

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

Item não circula. Consulte sua biblioteca.(Acessar)

4
Regulatory variants of FOXG1 in the context of its topological domain organisation
Regulatory variants of FOXG1 in the context of its topological domain organisation
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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)

5
Mining Novel Candidate Imprinted Genes Using Genome-Wide Methylation Screening and Literature Review
Mining Novel Candidate Imprinted Genes Using Genome-Wide Methylation Screening and Literature Review
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Mining Novel Candidate Imprinted Genes Using Genome-Wide Methylation Screening and Literature Review

Adriano Bonaldi André Kashiwabara; Érica S. de Araújo; Lygia da Veiga Pereira; Alexandre R Paschoal; Mayra B Andozia; Darine Villela; Maria P Rivas; Claudia K Suemoto; Carlos A Pasqualucci; Lea T Grinberg; Helena Brentani; Silvya Stuchi Maria-Engler; Dirce M Carraro; Angela M Vianna-Morgante; Carla Rosenberg; Luciana R Vasques; Ana Cristina Victorino Krepischi

Epigenomes Basel v. 1, n. 2, p. 1-5, Sept. 2017

Basel 2017

Item não circula. Consulte sua biblioteca.(Acessar)

6
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)

7
Molecular and clinical delineation of the 17q22 microdeletion phenotype
Molecular and clinical delineation of the 17q22 microdeletion phenotype
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Molecular and clinical delineation of the 17q22 microdeletion phenotype

Tobias Laurell Johanna Lundin; Britt-Marie Anderlid; Jerome L Gorski; Giedre Grigelioniene; Samantha J. L Knight; Ana Cristina Victorino Krepischi; Agneta Nordenskjöld; Susan M Price; Carla Rosenberg; Peter D Turnpenny; Angela M Vianna-Morgante; Ann Nordgren

European Journal of Human Genetics London v. 21, n. 10, p. 1085-1092, Oct. 2013

London 2013

Item não circula. Consulte sua biblioteca.(Acessar)

8
Germline DNA copy number variation in familial and early-onset breast cancer
Germline DNA copy number variation in familial and early-onset breast cancer
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Germline DNA copy number variation in familial and early-onset breast cancer

Ana Cristina Victorino Krepischi Maria Izabel W Achatz; Erika Maria Monteiro Santos; Sílvia S Costa; Bianca Cristina Garcia Lisboa; Helena Brentani; Tiago M Santos; Amanda Gonçalves; Amanda F Nóbrega; Peter Lees Pearson; Angela M Vianna-Morgante; Dirce M Carraro; Ricardo Renzo Brentani; Carla Rosenberg

Breast Cancer Research London v. 14, n. 1, p. R24-R31, 2012

London 2012

Item não circula. Consulte sua biblioteca.(Acessar)

9
Germline DNA copy number variation in familial and early-onset breast cancer
Germline DNA copy number variation in familial and early-onset breast cancer
Material Type:
Artigo 		Adicionar ao Meu Espaço

Germline DNA copy number variation in familial and early-onset breast cancer

Ana Cristina Victorino Krepischi Maria Izabel W Achatz; Erika Maria Monteiro Santos; Sílvia S Costa; Bianca Cristina Garcia Lisboa; Helena Brentani; Tiago M Santos; Amanda Gonçalves; Amanda F Nóbrega; Peter Lees Pearson; Angela Maria Vianna-Morgante; Dirce M Carraro; Ricardo Renzo Brentani; Carla Rosenberg

Breast Cancer Research London v. 14, n. 1, p. R24-R31, 2012

London 2012

Item não circula. Consulte sua biblioteca.(Acessar)

10
An illustrative case of neurofibromatosis type 1 and NF1 microdeletion
An illustrative case of neurofibromatosis type 1 and NF1 microdeletion
Material Type:
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An illustrative case of neurofibromatosis type 1 and NF1 microdeletion

Leide de Almeida Praxedes Flávia Moutinho Pereira; Juliana Forte Mazzeu; Silvia Souza da Costa; Débora Romeo Bertola; Chong Ae Kim; Angela M Vianna-Morgante; Paulo A Otto

Molecular Syndromology Basel v. 1, n. 3, p. 133-135, 2010

Basel 2010

Item não circula. Consulte sua biblioteca.(Acessar)

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