Morice-Picard F - Search Results

1

Brachydactyly type A1 with short humerus and associated skeletal features.

Lacombe D, Delrue MA, Rooryck C, Morice-Picard F, Arveiler B, Maugey-Laulom B, Mundlos S, Toutain A, Chateil JF. Lacombe D, et al. Am J Med Genet A. 2010 Dec;152A(12):3016-21. doi: 10.1002/ajmg.a.33761. Am J Med Genet A. 2010. PMID: 21077205

2

Giant syringocystadenocarcinoma papilliferum with conjunctival recurrence: Possible Schimmelpenning syndrome with postzygotic G13R HRAS and K601N BRAF signature.

Dupont A, Vergara R, Pacaud A, Dequidt L, Dutriaux C, Saunier V, Caumont C, Jullie ML, Taïeb A, Morice-Picard F, Dousset L. Dupont A, et al. J Eur Acad Dermatol Venereol. 2023 Dec;37(12):e1420-e1422. doi: 10.1111/jdv.19346. Epub 2023 Jul 20. J Eur Acad Dermatol Venereol. 2023. PMID: 37458522 No abstract available.

3

A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a Moroccan family.

Lanvin PL, Lebreton L, Lasseaux E, Creveaux I, Léauté-Labrèze C, Boralevi F, Morice-Picard F. Lanvin PL, et al. Clin Exp Dermatol. 2023 Nov 16;48(12):1414-1417. doi: 10.1093/ced/llad221. Clin Exp Dermatol. 2023. PMID: 37401642 No abstract available.

4

A novel compound heterozygous variant in the LLS gene is associated with nonsyndromic hypotrichosis.

Morice-Picard F, Lanvin PL, Lasseaux E, Boralevi F, Léauté-Labrèze C, Lebreton L. Morice-Picard F, et al. Clin Exp Dermatol. 2023 Aug 25;48(9):1087-1089. doi: 10.1093/ced/llad174. Clin Exp Dermatol. 2023. PMID: 37140446 No abstract available.

5

Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects.

Rooryck C, Morice-Picard F, Elçioglu NH, Lacombe D, Taieb A, Arveiler B. Rooryck C, et al. Pigment Cell Melanoma Res. 2008 Oct;21(5):583-7. doi: 10.1111/j.1755-148X.2008.00496.x. Pigment Cell Melanoma Res. 2008. PMID: 18821858 No abstract available.

6

Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco.

Mostefai R, Morice-Picard F, Boralevi F, Sautarel M, Lacombe D, Stasia MJ, McGrath J, Taïeb A. Mostefai R, et al. Am J Med Genet A. 2008 Nov 1;146A(21):2762-9. doi: 10.1002/ajmg.a.32524. Am J Med Genet A. 2008. PMID: 18925663

7

Hallerman-Streiff-like syndrome presenting with laterality and cardiac defects.

Morice-Picard F, Marlin S, Rooryck C, Fayon M, Thambo JB, Demarquez JL, Fauroux B, Denoyelle F, Lacombe D. Morice-Picard F, et al. Clin Dysmorphol. 2009 Apr;18(2):116-119. doi: 10.1097/MCD.0b013e32831da7ab. Clin Dysmorphol. 2009. PMID: 19057381

8

New clinico-genetic classification of trichothiodystrophy.

Morice-Picard F, Cario-André M, Rezvani H, Lacombe D, Sarasin A, Taïeb A. Morice-Picard F, et al. Am J Med Genet A. 2009 Sep;149A(9):2020-30. doi: 10.1002/ajmg.a.32902. Am J Med Genet A. 2009. PMID: 19681155 Review.

9

Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia.

Tanaka A, Morice-Picard F, Lacombe D, Nagy N, Hide M, Taïeb A, McGrath J. Tanaka A, et al. Am J Med Genet A. 2010 Jun;152A(6):1347-8. doi: 10.1002/ajmg.a.33455. Am J Med Genet A. 2010. PMID: 20503306 No abstract available.

10

A novel mutation in the fatty acid transport protein 4 gene in a patient initially described as affected by self-healing congenital verruciform hyperkeratosis.

Morice-Picard F, Léauté-Labrèze C, Décor A, Boralevi F, Lacombe D, Taieb A, Fischer J. Morice-Picard F, et al. Am J Med Genet A. 2010 Oct;152A(10):2664-5. doi: 10.1002/ajmg.a.33648. Am J Med Genet A. 2010. PMID: 20815031 No abstract available.

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