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1
A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate
A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate
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A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate

Giselle Izzo Erika L Freitas; Ana Cristina Victorino Krepischi; Peter L Pearson; Luciana R Vasques; Maria Rita Passos-Bueno; Débora R Bertola; Carla Rosenberg

European Journal of Medical Genetics Issy les Moulineaux v. 56, n. 4, p. 222-225, Apr. 2013

Issy Les Mouleneaux 2013

Item não circula. Consulte sua biblioteca.(Acessar)

2
A familial case with interstitial 2q36 deletion variable phenotypic expression in full and mosaic state
A familial case with interstitial 2q36 deletion variable phenotypic expression in full and mosaic state
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A familial case with interstitial 2q36 deletion variable phenotypic expression in full and mosaic state

Erika L Freitas Susan M Gribble; Milena Simioni; Társis P Vieira; Elena Prigmore; Ana Cristina Victorino Krepischi; Carla Rosenberg; Peter L Pearson; Débora G Melo; Vera Lúcia Gil-da-Silva Lopes

European Journal of Medical Genetics Issy les Moulineaux v. 55, n. 11, p.660-665, Nov. 2012

Issy les Moulineaux 2012

Item não circula. Consulte sua biblioteca.(Acessar)

3
Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy
Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy
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Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy

Ana Cristina Victorino Krepischi Jeroen Knijnenburg; Debora Romeu Bertola; Chong Ae Kim; Peter Lees Pearson; Emilia Bijlsma; Karoly Szuhai; Fernando Kok; Angela M Vianna-Morgante; Carla Rosenberg

Epilepsia Hoboken v. 51 n. 12, p. 2457-2460, dec. 2010

Hoboken 2010

Item não circula. Consulte sua biblioteca.(Acessar)

4
Large germline copy number variations as predisposing factor in childhood neoplasms
Large germline copy number variations as predisposing factor in childhood neoplasms
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Large germline copy number variations as predisposing factor in childhood neoplasms

Ana Cristina Victorino Krepischi Leonardo Pires Capelli; Amanda Gonçalves Silva; Érica Sara Souza de Araújo; Peter Lees Pearson; Benjamin Heck; Cecília Maria Lima da Costa; Beatriz de Camargo; Carla Rosenberg

Future Oncology London v. 10, n.9, p. 1627-1633, 2014

London 2014

Item não circula. Consulte sua biblioteca.(Acessar)

5
Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion
Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion
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Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion

Alexsandro dos Santos Francine Campagnari; Ana Cristina Victorino Krepischi; Maria de Lourdes Ribeiro Câmara; Rita de Cássia E. de Arruda Brasil; Ligia Vieira; Angela M Vianna-Morgante; Paulo A Otto; Peter L Pearson; Carla Rosenberg

Chromosome Research Dordrecht v. 26, p. 191-198, 2018

Dordrecht 2018

Item não circula. Consulte sua biblioteca.(Acessar)

6
Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy
Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy

Ana Cristina Victorino Krepischi Jeroen Knijnenburg; Debora Romeu Bertola; Chong Ae Kim; Peter Lees Pearson; Emilia Bijlsma; Karoly Szuhai; Fernando Kok; Angela Maria Vianna-Morgante; Carla Rosenberg

Epilepsia Hoboken v. 51 n. 12, p. 2457-2460, dec. 2010

Hoboken 2010

Item não circula. Consulte sua biblioteca.(Acessar)

7
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)

8
Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? [Carta]
Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? [Carta]
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Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? [Carta]

Amanda G Silva Ana Cristina Victorino Krepischi; Giovana T Torrezan; Leonardo P Capelli; Dirce M Carraro; Carla S D'Angelo; Celia Priszkulnik Koiffmann; Mayana Zatz; Michel Naslavsky; Cibele Masotti; Paulo A Otto; Maria I. W Achatz; Ryan E Mills; Charles Lee; Peter L Pearson; Carla Rosenberg

European Journal of Human Genetics London online, p. 1-3 on-line, 2013

London 2013

Item não circula. Consulte sua biblioteca.(Acessar)

9
DNA methylation landscape of hepatoblastomas reveals arrest at early stages of liver differentiation and cancer-related alterations
DNA methylation landscape of hepatoblastomas reveals arrest at early stages of liver differentiation and cancer-related alterations
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DNA methylation landscape of hepatoblastomas reveals arrest at early stages of liver differentiation and cancer-related alterations

Mariana Maschietto Tatiane Cristina Rodrigues; André Yoshiaki Kashiwabara; Érica Sara Souza de Araújo; Talita Ferreira Marques Aguiar; Cecília Maria Lima da Costa; Isabela Werneck da Cunha; Luciana dos Reis Vasques; Monica Cypriano; Helena Brentani; Silvia Regina Caminada de Toledo; Peter Lees Pearson; Dirce Maria Carraro; Carla Rosenberg; Ana Cristina Victorino Krepischi

Oncotarget Albany v. 8, n. 58, p. 97871-97889, Nov. 2017

Albany 2017

Localização: FM - Fac. Medicina    (BCSEP 066 2017 )(Acessar)

10
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

Item não circula. Consulte sua biblioteca.(Acessar)

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Deste Autor:

  1. Krepischi, A
  2. Rosenberg, C
  3. Pearson, P
  4. Vianna-Morgante, A
  5. Carraro, D

Neste Assunto:

  1. Genética Médica
  2. Doenças Genéticas
  3. Neoplasias
  4. Malformações
  5. Genética

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

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