Fanny Morice-Picard

Summary

Affiliation: CHU de Bordeaux
Country: France

Publications

  1. doi request reprint 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 request reprint 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 request reprint 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
  4. doi request reprint 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
  5. doi request reprint 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 request reprint 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
  7. doi request reprint 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
  8. doi request reprint 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 request reprint 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 request reprint 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 request reprint 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 request reprint 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...
  4. doi request reprint 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. ..
  5. doi request reprint 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 request reprint 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. ..
  7. doi request reprint 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...
  8. doi request reprint 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 request reprint 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...