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Albertina De Sario

Research Profile

Anatomy

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Genes & Molecular Sequences

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Molecular Sequence Data

Physiology

DNA Methylation

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Publications

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Erica Lana; Gérard Lefranc; André Mégarbané; Pierre Sarda; Hélène Tourrière; Mireille Claustres; Albertina De Sario
DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations.
Marie-Elisabeth Brun; Erica Lana; Isabelle Rivals; Gérard Lefranc; Pierre Sarda; Mireille Claustres; André Mégarbané; Albertina De Sario
Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome.
Albertina De Sario
Clinical and molecular overview of inherited disorders resulting from epigenomic dysregulation.

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All Publications

2012: Erica Lana; Gérard Lefranc; André Mégarbané; Pierre Sarda; Hélène Tourrière; Mireille Claustres; Albertina De Sario
DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations.
European journal of human genetics : EJHG 2012;20(10):1044-50.
2011: Marie-Elisabeth Brun; Erica Lana; Isabelle Rivals; Gérard Lefranc; Pierre Sarda; Mireille Claustres; André Mégarbané; Albertina De Sario
Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome.
PloS one 2011;6(4):e19464.
2009: Albertina De Sario
Clinical and molecular overview of inherited disorders resulting from epigenomic dysregulation.
European journal of medical genetics 2009;52(6):363-72.
2008: Christoph Grunau; Marie-Elisabeth Brun; Isabelle Rivals; Janick Selves; Winfried Hindermann; Magali Favre-Mercuret; Guillaume Granier; Albertina De Sario
BAGE hypomethylation, a new epigenetic biomarker for colon cancer detection.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008;17(6):1374-9.
2006: Christoph Grunau; Jérôme Buard; Marie-Elisabeth Brun; Albertina De Sario
Mapping of the juxtacentromeric heterochromatin-euchromatin frontier of human chromosome 21.
Genome research 2006;16(10):1198-207.
2006: Marie-Elisabeth Brun; Stéphan Gasca; Cyrille Girard; Katia Bouton; Bernard de Massy; Albertina De Sario
Characterization and expression analysis during embryo development of the mouse ortholog of MLL3.
Gene 2006;371(1):25-33.
2005: Christoph Grunau; Cecilia Sanchez; Melanie Ehrlich; Pierre van der Bruggen; Winfried Hindermann; Carmen Rodriguez; Sophie Krieger; Louis Dubeau; Emerich Fiala; Albertina De Sario
Frequent DNA hypomethylation of human juxtacentromeric BAGE loci in cancer.
Genes, chromosomes & cancer 2005;43(1):11-24.
2004: Gérard Roizés; Christoph Grunau; Jérôme Buard; Albertina De Sario; Jacques Puechberty
Centromeres and neocentromeres.
Methods in molecular biology (Clifton, N.J.) 2004;240():77-104.
2003: Marie-Elisabeth Brun; Myriam Ruault; ventura Mario; Gérard Roizès; Albertina De Sario
Juxtacentromeric region of human chromosome 21: a boundary between centromeric heterochromatin and euchromatic chromosome arms.
Gene 2003;312():41-50.
2003: Myriam Ruault; ventura Mario; Nicolas Galtier; Marie-Elisabeth Brun; Nicoletta Archidiacono; Gérard Roizès; Albertina De Sario
BAGE genes generated by juxtacentromeric reshuffling in the Hominidae lineage are under selective pressure.
Genomics 2003;81(4):391-9.
2002: Myriam Ruault; Pierre van der Bruggen; Marie-Elisabeth Brun; Shelagh Boyle; Gérard Roizès; Albertina De Sario
New BAGE (B melanoma antigen) genes mapping to the juxtacentromeric regions of human chromosomes 13 and 21 have a cancer/testis expression profile.
European journal of human genetics : EJHG 2002;10(12):833-40.
2002: Myriam Ruault; Marie-Elisabeth Brun; ventura Mario; Gérard Roizès; Albertina De Sario
MLL3, a new human member of the TRX/MLL gene family, maps to 7q36, a chromosome region frequently deleted in myeloid leukaemia.
Gene 2002;284(1-2):73-81.
2000: V Trichet; Myriam Ruault; Gérard Roizès; Albertina De Sario
Characterization of the human tubulin tyrosine ligase-like 1 gene (TTLL1) mapping to 22q13.1.
Gene 2000;257(1):109-17.
2000: Michel Guipponi; Marie-Laure Yaspo; L Riesselman; H Chen; Albertina De Sario; Gérard Roizès; Stylianos E Antonarakis
Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21.
Human genetics 2000;107(2):127-31.
1999: Myriam Ruault; V Trichet; S Gimenez; Shelagh Boyle; K Gardiner; M Rolland; Gérard Roizès; Albertina De Sario
Juxta-centromeric region of human chromosome 21 is enriched for pseudogenes and gene fragments.
Gene 1999;239(1):55-64.
1998: S Saupe; Gérard Roizès; M Peter; Shelagh Boyle; K Gardiner; Albertina De Sario
Molecular cloning of a human cDNA IGSF3 encoding an immunoglobulin-like membrane protein: expression and mapping to chromosome band 1p13.
Genomics 1998;52(3):305-11.