Morice-Picard F - Search Results

1

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

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

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.

4

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

5

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.

6

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.

7

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.

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

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.

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