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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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Artigo 		Adicionar ao Meu Espaço

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)

2
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
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

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

European journal of medical genetics, 2020-03, Vol.63 (3), p.103737-103737, Article 103737 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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3
Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene
Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene
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Artigo 		Adicionar ao Meu Espaço

Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene

Coursimault, Juliette ; Goldenberg, Alice ; Nicolas, Gaël ; Saugier-Veber, Pascale ; Coutant, Sophie ; Vincent, Anne ; Pouliquen, Dorothée ; Feltin, Cécile ; Aref‐Eshghi, Erfan ; Sadikovic, Bekim ; Lecoquierre, François

European journal of medical genetics, 2022-09, Vol.65 (9), p.104556-104556, Article 104556 [Periódico revisado por pares]

Elsevier Masson SAS

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4
KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature
KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature
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Artigo 		Adicionar ao Meu Espaço

KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature

Gonçalves, Thainá Fernandez ; Gonçalves, Andressa Pereira ; Fintelman Rodrigues, Natalia ; dos Santos, Jussara Mendonça ; Pimentel, Márcia Mattos Gonçalves ; Santos-Rebouças, Cíntia Barros

European journal of medical genetics, 2014-03, Vol.57 (4), p.138-144 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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5
Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features
Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features
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Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features

Fieremans, Nathalie ; Van Esch, Hilde ; de Ravel, Thomy ; Van Driessche, Jozef ; Belet, Stefanie ; Bauters, Marijke ; Froyen, Guy

European journal of medical genetics, 2015-05, Vol.58 (5), p.324-327 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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6
A novel c.2T > C mutation of the KDM5C / JARID1C gene in one large family with X-linked intellectual disability
A novel c.2T > C mutation of the KDM5C / JARID1C gene in one large family with X-linked intellectual disability
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A novel c.2T > C mutation of the KDM5C / JARID1C gene in one large family with X-linked intellectual disability

Õunap, Katrin ; Puusepp-Benazzouz, Helen ; Peters, Maire ; Vaher, Ulvi ; Rein, Reet ; Proos, Anne ; Field, Mike ; Reimand, Tiia

European journal of medical genetics, 2012-03, Vol.55 (3), p.178-184 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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Deste Autor:

  1. Leal, G
  2. Oliveira, J
  3. Oliveira Santos, J
  4. Oliveira, D
  5. Krepischi, A

Neste Assunto:

  1. Kdm5c
  2. Genetics & Heredity
  3. Life Sciences & Biomedicine
  4. Science & Technology
  5. Female

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

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