Affiliation: CHU de Bordeaux
- Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutationFanny 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...
- New clinico-genetic classification of trichothiodystrophyFanny 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...
- Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature reviewFanny 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. ..
- Development and validation of the K-VSCOR for scoring Koebner's phenomenon in vitiligo/non-segmental vitiligoAbou 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...
- Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotypeFanny Morice-Picard
Univ Bordeaux, Maladies Rares Génétique et Métabolisme MRGM EA4576, Bordeaux, France
Eur J Hum Genet 25:52-58. 2016....
- Poikiloderma with neutropenia, Clericuzio type, in a family from MoroccoRahima 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...
- Segmental vitiligo as the possible expression of cutaneous somatic mosaicism: implications for common non-segmental vitiligoAlain 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...
- 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 geneFanny 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. ..
- Identification of a complex 17q rearrangement in a metanephric stromal tumorJerome 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...
- An unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal womanJerome Toutain
Laboratoire de Cytogenetique, Service de Genetique Medicale, Hôpital Pellegrin Maternité, CHU de Bordeaux, France
Eur J Med Genet 54:292-4. 2011....