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  1. Article

    Open Access

    PAT-ChIP coupled with laser microdissection allows the study of chromatin in selected cell populations from paraffin-embedded patient samples

    The recent introduction of pathology tissue-chromatin immunoprecipitation (PAT-ChIP), a technique allowing chromatin immunoprecipitation from formalin-fixed and paraffin-embedded (FFPE) tissues, has expanded t...

    Stefano Amatori, Marco Ballarini, Alice Faversani, Elena Belloni… in Epigenetics & Chromatin (2014)

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    Article

    FISH analysis of hematological neoplasias with 1p36 rearrangements allows the definition of a cluster of 2.5 Mb included in the minimal region deleted in 1p36 deletion syndrome

    Rearrangements in the distal region of the short arm of chromosome 1 are recurrent aberrations in a broad spectrum of human neoplasias. However, neither the location of the breakpoints (BP) on 1p36 nor the can...

    Idoya Lahortiga, Iria Vázquez, Elena Belloni, José P. Román… in Human Genetics (2005)

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    Article

    A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis

    Partial absence of the sacrum is a rare congenital defect which also occurs as an autosomal dominant trait; association with anterior meningocoele, presacral teratoma and anorectal abnormalities constitutes th...

    Alison J. Ross, Victor Ruiz-Perez, Yiming Wang, Donna-Marie Hagan… in Nature Genetics (1998)

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    Article

    Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly

    Holoprosencephaly (HPE) is a genetically heterogeneous disorder that affects the midline development of the forebrain and midface in humans. As a step toward identifying one of the HPE genes, we have set out to ...

    Erich Roessler, Deeann E. Ward, Karin Gaudenz, Elena Belloni… in Human Genetics (1997)

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    Article

    Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

    Holoprosencephaly (HPE) is a common developmental defect of the forebrain and frequently the midface in humans, with both genetic and environmental causes. HPE has a prevalence of 1:250 during embryogenesis an...

    Erich Roessler, Elena Belloni, Karin Gaudenz, Philippe Jay… in Nature Genetics (1996)

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    Article

    Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations

    A cohort of 31 cystic fibrosis patients showing pancreatic sufficiency and bearing an unidentified mutation on at least one chromosome was analyzed through denaturing gradient gel electrophoresis of the whole ...

    Valeria Brancolini, Laura Cremonesi, Elena Belloni, Emanuela Pappalardo… in Human Genetics (1995)