Geraldine Viot

Summary

Country: France

Publications

  1. ncbi request reprint Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance
    Geraldine Viot
    Department of Genetics, Hopital Necker Enfants Malades, Paris, France
    Am J Med Genet 107:1-4. 2002
  2. doi request reprint A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders
    Fatma Abdelhedi
    Cytogenetics Laboratory, APHP, Cochin Hospital, Paris, France
    Am J Med Genet A 170:1912-7. 2016
  3. doi request reprint Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum
    Fatma Abdelhedi
    From the Cytogenetics Laboratory, APHP, Cochin Hospital, Paris, France
    Am J Clin Pathol 142:248-53. 2014
  4. 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
  5. ncbi request reprint First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation
    Celine Dupont
    AP HP, Hopital Cochin, Service Histologie Embryologie Cytogénétique, Universite Paris Descartes, Faculte de Medecine, Unité INSERM U709, Paris, France
    Am J Med Genet A 143:1236-43. 2007
  6. ncbi request reprint Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online
    Rana Khaddour
    INSERM U 781, Hopital Necker Enfants Malades, Universite Rene Descartes, Paris, France
    Hum Mutat 28:523-4. 2007

Collaborators

  • Jean Michel Dupont
  • Aziza Lebbar
  • Catherine Turleau
  • Alain Verloes
  • Annick Toutain
  • Damien Sanlaville
  • Marie Claire Gubler
  • Arnold Munnich
  • Didier Lacombe
  • Fatma Abdelhedi
  • Laila El Khattabi
  • Laurence Cuisset
  • Rana Khaddour
  • Celine Dupont
  • Nouha Essid
  • Dominique Letessier
  • Vassilis Tsatsaris
  • Luc Druart
  • Francoise Baverel
  • Stanislas Lyonnet
  • Ferechte Encha-Razavi
  • Lekbir Baala
  • Dominique Le Tessier
  • Jerome Le Bozec
  • Camille d'Humières
  • Stavit Shalev
  • Phillip Cox
  • Philip A Batman
  • Claire Boone
  • Jelena Martinovic
  • Cecile Teinturier
  • Chantal Esculpavit
  • Tania Attie-Bitach
  • Mira Kyttälä
  • Emmanuelle Genin
  • Ursula Smith
  • Fiona MacDonald
  • Martine Le Merrer
  • Colin A Johnson
  • Michel Vekemans
  • Joelle Roume
  • Christine Oien
  • Sophie Audollent
  • Catherine Ozilou
  • Rizwana Shaffiq
  • C Geoffrey Woods
  • Andrew Cullinane
  • Noman Kadhom
  • Davina Clavering
  • Christopher P Bennett

Detail Information

Publications6

  1. ncbi request reprint Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance
    Geraldine Viot
    Department of Genetics, Hopital Necker Enfants Malades, Paris, France
    Am J Med Genet 107:1-4. 2002
    ..This finding, in combination with a sex ratio in favor of females and an increased morbidity and mortality in males, is highly suggestive of X-linked dominant inheritance...
  2. doi request reprint A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders
    Fatma Abdelhedi
    Cytogenetics Laboratory, APHP, Cochin Hospital, Paris, France
    Am J Med Genet A 170:1912-7. 2016
    ..Our data also led us to propose a clinical pathway for patients with this recognizable genetic syndrome depending on the facial dysmorphisms. © 2016 Wiley Periodicals, Inc. ..
  3. doi request reprint Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum
    Fatma Abdelhedi
    From the Cytogenetics Laboratory, APHP, Cochin Hospital, Paris, France
    Am J Clin Pathol 142:248-53. 2014
    ..We report here the unusual association of Silver-Russell syndrome (SRS) and cerebellar dysplasia with trisomy 7 mosaicism and maternal uniparental disomy of chromosome 7 [UPD(7)m]...
  4. 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...
  5. ncbi request reprint First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation
    Celine Dupont
    AP HP, Hopital Cochin, Service Histologie Embryologie Cytogénétique, Universite Paris Descartes, Faculte de Medecine, Unité INSERM U709, Paris, France
    Am J Med Genet A 143:1236-43. 2007
    ..This case highlights the importance of clinically driven FISH investigations in order to uncover cryptic micro-rearrangements...
  6. ncbi request reprint Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online
    Rana Khaddour
    INSERM U 781, Hopital Necker Enfants Malades, Universite Rene Descartes, Paris, France
    Hum Mutat 28:523-4. 2007
    ..4050 years) ago. We also identified a common MKS3 splice-site mutation, c.1575+1G>A, in five Pakistani sibships of three unrelated families of Mirpuri origin, with an estimated age-of-mutation of 5 generations (125 years)...