Morice-Picard F - Search Results

1

STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.

Mignot C, Moutard ML, Trouillard O, Gourfinkel-An I, Jacquette A, Arveiler B, Morice-Picard F, Lacombe D, Chiron C, Ville D, Charles P, LeGuern E, Depienne C, Héron D. Mignot C, et al. Epilepsia. 2011 Oct;52(10):1820-7. doi: 10.1111/j.1528-1167.2011.03163.x. Epub 2011 Jul 18. Epilepsia. 2011. PMID: 21762454 Free article.

2

Mosaic GJB2 mutation A88V leading to diffuse neonatal hyperkeratosis and porokeratotic hamartoma.

Letertre O, Jullie ML, Reboul MP, Leclerc-Mercier S, Charbit F, Boralevi F, Labrèze C, Hadj-Rabia S, Morice-Picard F. Letertre O, et al. J Eur Acad Dermatol Venereol. 2023 Jun;37(6):e801-e803. doi: 10.1111/jdv.18935. Epub 2023 Feb 17. J Eur Acad Dermatol Venereol. 2023. PMID: 36734293 No abstract available.

3

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.

4

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.

5

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. Among authors: morice picard f. 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.

6

French national protocol for the management of congenital ichthyosis.

Severino-Freire M, Granier Tournier C, Chiaverini C, Audouze A, Morice-Picard F, Texier H, Dreyfus I, Bing-Lecointe AC, Mallet S, Bodemer C, Fischer J, Jonca N, Mazereeuw-Hautier J; French Pediatric Dermatology Research Group. Severino-Freire M, et al. Among authors: morice picard f. Ann Dermatol Venereol. 2024 Mar;151(1):103247. doi: 10.1016/j.annder.2024.103247. Epub 2024 Mar 20. Ann Dermatol Venereol. 2024. PMID: 38513308

7

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.

8

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

9

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.

Rooryck C, Morice-Picard F, Lasseaux E, Cailley D, Dollfus H, Defoort-Dhellemme S, Duban-Bedu B, de Ravel TJ, Taieb A, Lacombe D, Arveiler B. Rooryck C, et al. Hum Genet. 2011 Feb;129(2):199-208. doi: 10.1007/s00439-010-0913-5. Epub 2010 Nov 18. Hum Genet. 2011. PMID: 21085994

10

An unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal woman.

Toutain J, Taine L, Morice-Picard F, Hallal H, Dai ZQ, Arveiler B, Lacombe D, Horovitz J, Saura R. Toutain J, et al. Eur J Med Genet. 2011 May-Jun;54(3):292-4. doi: 10.1016/j.ejmg.2010.12.005. Epub 2011 Jan 5. Eur J Med Genet. 2011. PMID: 21215339

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