Chemaitilly W - Search Results

1

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.

El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C, Chemaitilly W, Prost-Squarcioni C, Al-Gazali LI, Verloes A, Le Merrer M, Munnich A, Trembath RC, Cormier-Daire V. El Ghouzzi V, et al. Among authors: chemaitilly w. Hum Mol Genet. 2003 Feb 1;12(3):357-64. doi: 10.1093/hmg/ddg029. Hum Mol Genet. 2003. PMID: 12554689

2

Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1.

Thauvin-Robinet C, El Ghouzzi V, Chemaitilly W, Dagoneau N, Boute O, Viot G, Mégarbané A, Sefiani A, Munnich A, Le Merrer M, Cormier-Daire V. Thauvin-Robinet C, et al. Among authors: chemaitilly w. J Med Genet. 2002 Oct;39(10):714-7. doi: 10.1136/jmg.39.10.714. J Med Genet. 2002. PMID: 12362026 Free PMC article.

3

Identification of mutations in CUL7 in 3-M syndrome.

Huber C, Dias-Santagata D, Glaser A, O'Sullivan J, Brauner R, Wu K, Xu X, Pearce K, Wang R, Uzielli ML, Dagoneau N, Chemaitilly W, Superti-Furga A, Dos Santos H, Mégarbané A, Morin G, Gillessen-Kaesbach G, Hennekam R, Van der Burgt I, Black GC, Clayton PE, Read A, Le Merrer M, Scambler PJ, Munnich A, Pan ZQ, Winter R, Cormier-Daire V. Huber C, et al. Among authors: chemaitilly w. Nat Genet. 2005 Oct;37(10):1119-24. doi: 10.1038/ng1628. Epub 2005 Sep 4. Nat Genet. 2005. PMID: 16142236

4

Adrenal insufficiency and abnormal genitalia in a 46XX female with Smith-Lemli-Opitz syndrome.

Chemaitilly W, Goldenberg A, Baujat G, Thibaud E, Cormier-Daire V, Abadie V. Chemaitilly W, et al. Horm Res. 2003;59(5):254-6. doi: 10.1159/000070226. Horm Res. 2003. PMID: 12714790

5

Metrorrhagia and precocious puberty revealing primary hypothyroidism in a child with Down's syndrome.

Chemaitilly W, Thalassinos C, Emond S, Thibaud E. Chemaitilly W, et al. Arch Dis Child. 2003 Apr;88(4):330-1. doi: 10.1136/adc.88.4.330. Arch Dis Child. 2003. PMID: 12651760 Free PMC article.

6

Factors predicting adult height in girls with idiopathic central precocious puberty: implications for treatment.

Adan L, Chemaitilly W, Trivin C, Brauner R. Adan L, et al. Among authors: chemaitilly w. Clin Endocrinol (Oxf). 2002 Mar;56(3):297-302. doi: 10.1046/j.1365-2265.2002.01488.x. Clin Endocrinol (Oxf). 2002. PMID: 11940040

7

Presentation and evolution of organic central precocious puberty according to the type of CNS lesion.

Trivin C, Couto-Silva AC, Sainte-Rose C, Chemaitilly W, Kalifa C, Doz F, Zerah M, Brauner R. Trivin C, et al. Among authors: chemaitilly w. Clin Endocrinol (Oxf). 2006 Aug;65(2):239-45. doi: 10.1111/j.1365-2265.2006.02582.x. Clin Endocrinol (Oxf). 2006. PMID: 16886967

8

[Central precocious puberty in girls: prediction of the etiology].

Brauner R, Couto-Silva AC, Chemaitilly W, Adan L, Trivin C. Brauner R, et al. Among authors: chemaitilly w. Arch Pediatr. 2005 Nov;12(11):1661-4. doi: 10.1016/j.arcped.2005.09.003. Epub 2005 Oct 11. Arch Pediatr. 2005. PMID: 16226023 French.

9

Central precocious puberty: clinical and laboratory features.

Chemaitilly W, Trivin C, Adan L, Gall V, Sainte-Rose C, Brauner R. Chemaitilly W, et al. Clin Endocrinol (Oxf). 2001 Mar;54(3):289-94. doi: 10.1046/j.1365-2265.2001.01229.x. Clin Endocrinol (Oxf). 2001. PMID: 11298079

10

Central precocious puberty in girls: an evidence-based diagnosis tree to predict central nervous system abnormalities.

Chalumeau M, Chemaitilly W, Trivin C, Adan L, Bréart G, Brauner R. Chalumeau M, et al. Among authors: chemaitilly w. Pediatrics. 2002 Jan;109(1):61-7. doi: 10.1542/peds.109.1.61. Pediatrics. 2002. PMID: 11773542

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