Fanny Morice-Picard

Summary

Affiliation: CHU de Bordeaux
Country: France

Publications

  1. doi New clinico-genetic classification of trichothiodystrophy
    Fanny Morice-Picard
    Department of Pediatric Dermatology, National Reference Center for Rare Skin Disorders, Pellegrin University Hospitals, Bordeaux, France
    Am J Med Genet A 149:2020-30. 2009
  2. doi Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation
    Fanny Morice-Picard
    Service de Genetique Medicale, Universite de Bordeaux 2, Centre Hôpitalier Universitaire de Bordeaux, Bordeaux, France
    Arch Dermatol 147:1073-6. 2011
  3. doi Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review
    Fanny Morice-Picard
    Pediatric Dermatology Unit, Department of Dermatology, National Reference Centre for Rare Skin Disorders, Bordeaux, France Department of Clinical Genetics, Bordeaux Children s Hospital, CHU de Bordeaux, Bordeaux, France
    Pediatr Dermatol 30:665-73. 2013
  4. doi Development and validation of the K-VSCOR for scoring Koebner's phenomenon in vitiligo/non-segmental vitiligo
    Abou Diallo
    Department of Dermatology and Pediatric Dermatology, National Centre for Rare Skin Disorders, Hopital Pellegrin, Bordeaux, France
    Pigment Cell Melanoma Res 26:402-7. 2013
  5. doi Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco
    Rahima Mostefai
    Department of Pediatric Dermatology National Reference Center for Rare Skin Disorders, Pellegrin University Hospitals, Bordeaux, France
    Am J Med Genet A 146:2762-9. 2008
  6. doi Segmental vitiligo as the possible expression of cutaneous somatic mosaicism: implications for common non-segmental vitiligo
    Alain Taieb
    Service de Dermatologie et Dermatologie Pédiatrique, Centre de référence des maladies rares de la peau, CHU de Bordeaux, Bordeaux, France
    Pigment Cell Melanoma Res 21:646-52. 2008
  7. doi High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene
    Fanny Morice-Picard
    Service de Genetique Medicale, CHU de Bordeaux, Bordeaux, France Maladies Rares Génétique et Métabolisme MRGM EA4576, Univ Bordeaux, Bordeaux, France
    Pigment Cell Melanoma Res 27:59-71. 2014
  8. doi An unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal woman
    Jerome Toutain
    Laboratoire de Cytogenetique, Service de Genetique Medicale, Hôpital Pellegrin Maternité, CHU de Bordeaux, France
    Eur J Med Genet 54:292-4. 2011
  9. doi Identification of a complex 17q rearrangement in a metanephric stromal tumor
    Jerome Toutain
    Service de Genetique Medicale, CHU de Bordeaux, France
    Cancer Genet 204:340-3. 2011

Detail Information

Publications9

  1. doi New clinico-genetic classification of trichothiodystrophy
    Fanny Morice-Picard
    Department of Pediatric Dermatology, National Reference Center for Rare Skin Disorders, Pellegrin University Hospitals, Bordeaux, France
    Am J Med Genet A 149:2020-30. 2009
    ..Understanding the TTD ichthyotic phenotype could lead to therapeutic advances in the management of TTD and other types of ichthyoses...
  2. doi Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation
    Fanny Morice-Picard
    Service de Genetique Medicale, Universite de Bordeaux 2, Centre Hôpitalier Universitaire de Bordeaux, Bordeaux, France
    Arch Dermatol 147:1073-6. 2011
    ..Random X-inactivation could account for the intrafamilial variability of the phenotype of X-linked dominant chondrodysplasia punctata...
  3. doi Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review
    Fanny Morice-Picard
    Pediatric Dermatology Unit, Department of Dermatology, National Reference Centre for Rare Skin Disorders, Bordeaux, France Department of Clinical Genetics, Bordeaux Children s Hospital, CHU de Bordeaux, Bordeaux, France
    Pediatr Dermatol 30:665-73. 2013
    ..The physiopathologic link between constitutional Ras-MAPK pathway activation and the observed ectodermal findings remains to be investigated. ..
  4. doi Development and validation of the K-VSCOR for scoring Koebner's phenomenon in vitiligo/non-segmental vitiligo
    Abou Diallo
    Department of Dermatology and Pediatric Dermatology, National Centre for Rare Skin Disorders, Hopital Pellegrin, Bordeaux, France
    Pigment Cell Melanoma Res 26:402-7. 2013
    ..Further studies should evaluate KP assessed by the K-VSCOR in clinical practice with the aim to determine its association with clinical profile, course and treatment response of vitiligo...
  5. doi Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco
    Rahima Mostefai
    Department of Pediatric Dermatology National Reference Center for Rare Skin Disorders, Pellegrin University Hospitals, Bordeaux, France
    Am J Med Genet A 146:2762-9. 2008
    ..It is discussed within the group of the major hereditary poikiloderma disorders, that is, Rothmund-Thomson syndrome, dyskeratosis congenita, and Kindler syndrome...
  6. doi Segmental vitiligo as the possible expression of cutaneous somatic mosaicism: implications for common non-segmental vitiligo
    Alain Taieb
    Service de Dermatologie et Dermatologie Pédiatrique, Centre de référence des maladies rares de la peau, CHU de Bordeaux, Bordeaux, France
    Pigment Cell Melanoma Res 21:646-52. 2008
    ..SV would be a good candidate disease to explore as a proof of principle of a new gene discovery strategy useful for multigenic disorders with organ specificity, applicable in priority to chronic inflammatory skin disorders...
  7. doi High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene
    Fanny Morice-Picard
    Service de Genetique Medicale, CHU de Bordeaux, Bordeaux, France Maladies Rares Génétique et Métabolisme MRGM EA4576, Univ Bordeaux, Bordeaux, France
    Pigment Cell Melanoma Res 27:59-71. 2014
    ..Finally, we review all known deletions of the OCA1-4 genes reported so far in the literature and show that deletions or duplications account for 5.6% of all mutations identified in the OCA1-4 genes. ..
  8. doi An unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal woman
    Jerome Toutain
    Laboratoire de Cytogenetique, Service de Genetique Medicale, Hôpital Pellegrin Maternité, CHU de Bordeaux, France
    Eur J Med Genet 54:292-4. 2011
    ....
  9. doi Identification of a complex 17q rearrangement in a metanephric stromal tumor
    Jerome Toutain
    Service de Genetique Medicale, CHU de Bordeaux, France
    Cancer Genet 204:340-3. 2011
    ..3 and 17q25.3. Cytogenetic confirmatory studies in metanephric stromal tumors are currently needed to assess 17q22q25.3 gain as a recurring cytogenetic abnormality of metanephric stromal tumors...