Catherine Turleau

Summary

Country: France

Publications

  1. pmc Monosomy 18p
    Catherine Turleau
    Cytogénétique AP HP et Inserm U781, Universite Paris Descartes, Hopital Necker Enfants Malades, 75015 Paris, France
    Orphanet J Rare Dis 3:4. 2008
  2. ncbi request reprint Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome
    Damien Sanlaville
    Département de génétique, Hopital Necker Enfants Malades, Paris, France
    Eur J Hum Genet 13:690-3. 2005
  3. pmc Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth
    Valerie Malan
    Departement de Génétique et INSERM U781, Universite Paris Descartes, Hopital Necker Enfants Malades, Paris, France
    Eur J Hum Genet 18:227-32. 2010
  4. ncbi request reprint Functional disomy of the Xq28 chromosome region
    Damien Sanlaville
    Département de génétique, Hopital Necker Enfants Malades, Paris, France
    Eur J Hum Genet 13:579-85. 2005
  5. ncbi request reprint Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature
    Laurence Faivre
    Département de génétique, Hopital Necker Enfants Malades, Paris, France
    Eur J Hum Genet 10:699-706. 2002
  6. ncbi request reprint Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene
    Laurence Faivre
    Centre de Genetique Medicale, Hôpital d Enfants, Dijon, France
    Prenat Diagn 24:393-5. 2004
  7. ncbi request reprint Intrachromosomal insertion mimicking a pericentric inversion: molecular cytogenetic characterization of a three break rearrangement of chromosome 20
    Azarnouche Ardalan
    Laboratoire de Cytogenetique, Groupe Hospitalier Cochin Saint Vincent De Paul, Paris, France
    Am J Med Genet A 138:288-93. 2005
  8. ncbi request reprint [Problems posed by genetic diseases: trisomy 21]
    Nicole Morichon-Delvallez
    Service d embryologie et de cytogénétique, Hopital Necker Enfants Malades, 75743 Paris 15
    Rev Prat 56:1357-62. 2006

Collaborators

Detail Information

Publications8

  1. pmc Monosomy 18p
    Catherine Turleau
    Cytogénétique AP HP et Inserm U781, Universite Paris Descartes, Hopital Necker Enfants Malades, 75015 Paris, France
    Orphanet J Rare Dis 3:4. 2008
    ..Except for the patients with severe brain malformations, the life expectancy does not seem significantly reduced...
  2. ncbi request reprint Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome
    Damien Sanlaville
    Département de génétique, Hopital Necker Enfants Malades, Paris, France
    Eur J Hum Genet 13:690-3. 2005
    ..They were tested for the presence of an 8p duplication using the same clones as described by Milunsky and Huang. Our results do not confirm the previously described association between KS and an 8p22-8p23.1 duplication...
  3. pmc Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth
    Valerie Malan
    Departement de Génétique et INSERM U781, Universite Paris Descartes, Hopital Necker Enfants Malades, Paris, France
    Eur J Hum Genet 18:227-32. 2010
    ....
  4. ncbi request reprint Functional disomy of the Xq28 chromosome region
    Damien Sanlaville
    Département de génétique, Hopital Necker Enfants Malades, Paris, France
    Eur J Hum Genet 13:579-85. 2005
    ..A clinically oriented FISH study using subtelomeric probes is necessary to detect such a cryptic rearrangement...
  5. ncbi request reprint Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature
    Laurence Faivre
    Département de génétique, Hopital Necker Enfants Malades, Paris, France
    Eur J Hum Genet 10:699-706. 2002
    ..Moreover, it further delineates a specific phenotype related to trisomy 15q26.1-qter with macrosomia at birth, overgrowth, macrocephaly and mild developmental delay being the major clinical features...
  6. ncbi request reprint Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene
    Laurence Faivre
    Centre de Genetique Medicale, Hôpital d Enfants, Dijon, France
    Prenat Diagn 24:393-5. 2004
    ..It also confirms that the overgrowth is of prenatal onset in those observations...
  7. ncbi request reprint Intrachromosomal insertion mimicking a pericentric inversion: molecular cytogenetic characterization of a three break rearrangement of chromosome 20
    Azarnouche Ardalan
    Laboratoire de Cytogenetique, Groupe Hospitalier Cochin Saint Vincent De Paul, Paris, France
    Am J Med Genet A 138:288-93. 2005
    ..The haplo-insufficiency of these two genes may contribute to the cause of epilepsy in patients with ring chromosome 20...
  8. ncbi request reprint [Problems posed by genetic diseases: trisomy 21]
    Nicole Morichon-Delvallez
    Service d embryologie et de cytogénétique, Hopital Necker Enfants Malades, 75743 Paris 15
    Rev Prat 56:1357-62. 2006