Cormier-Daire V - Search Results

1

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells.

de Beaucoudrey L, Puel A, Filipe-Santos O, Cobat A, Ghandil P, Chrabieh M, Feinberg J, von Bernuth H, Samarina A, Jannière L, Fieschi C, Stéphan JL, Boileau C, Lyonnet S, Jondeau G, Cormier-Daire V, Le Merrer M, Hoarau C, Lebranchu Y, Lortholary O, Chandesris MO, Tron F, Gambineri E, Bianchi L, Rodriguez-Gallego C, Zitnik SE, Vasconcelos J, Guedes M, Vitor AB, Marodi L, Chapel H, Reid B, Roifman C, Nadal D, Reichenbach J, Caragol I, Garty BZ, Dogu F, Camcioglu Y, Gülle S, Sanal O, Fischer A, Abel L, Stockinger B, Picard C, Casanova JL. de Beaucoudrey L, et al. J Exp Med. 2008 Jul 7;205(7):1543-50. doi: 10.1084/jem.20080321. J Exp Med. 2008. PMID: 18591412 Free PMC article.

2

A new lethal syndrome of exomphalos, short limbs, and macrogonadism.

Faivre L, Delezoide AL, Narcy F, Razavi F, Bouvier R, Cormier-Daire V, Briard ML, Lyonnet S, Vekemans M, Munnich A, Le Merrer M. Faivre L, et al. J Med Genet. 1999 Feb;36(2):131-6. J Med Genet. 1999. PMID: 10051012 Free PMC article.

3

Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.

El Ghouzzi V, Lajeunie E, Le Merrer M, Cormier-Daire V, Renier D, Munnich A, Bonaventure J. El Ghouzzi V, et al. Eur J Hum Genet. 1999 Jan;7(1):27-33. doi: 10.1038/sj.ejhg.5200240. Eur J Hum Genet. 1999. PMID: 10094188

4

Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation.

Cormier-Daire V, Chauvet ML, Lyonnet S, Briard ML, Munnich A, Le Merrer M. Cormier-Daire V, et al. J Med Genet. 2000 Jul;37(7):520-4. doi: 10.1136/jmg.37.7.520. J Med Genet. 2000. PMID: 10882755 Free PMC article.

5

Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated cases.

Amiel J, Faivre L, Marianowskl R, Bonnet D, Couly G, Manach Y, Le Merrer M, Cormier-Daire V, Munnich A, Lyonnet S. Amiel J, et al. Clin Dysmorphol. 2001 Jan;10(1):15-8. doi: 10.1097/00019605-200101000-00003. Clin Dysmorphol. 2001. PMID: 11152141 Review.

6

Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance.

Viot G, Lacombe D, David A, Mathieu M, de Broca A, Faivre L, Gigarel N, Munnich A, Lyonnet S, Le Merrer M, Cormier-Daire V. Viot G, et al. Am J Med Genet. 2002 Jan 1;107(1):1-4. doi: 10.1002/ajmg.10028. Am J Med Genet. 2002. PMID: 11807859

7

Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease.

Campos-Xavier B, Saraiva JM, Savarirayan R, Verloes A, Feingold J, Faivre L, Munnich A, Le Merrer M, Cormier-Daire V. Campos-Xavier B, et al. Hum Genet. 2001 Dec;109(6):653-8. doi: 10.1007/s00439-001-0644-8. Epub 2001 Nov 9. Hum Genet. 2001. PMID: 11810278

8

Clinical and genetic heterogeneity of Seckel syndrome.

Faivre L, Le Merrer M, Lyonnet S, Plauchu H, Dagoneau N, Campos-Xavier AB, Attia-Sobol J, Verloes A, Munnich A, Cormier-Daire V. Faivre L, et al. Am J Med Genet. 2002 Nov 1;112(4):379-83. doi: 10.1002/ajmg.10677. Am J Med Genet. 2002. PMID: 12376940

9

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome.

Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V. Faivre L, et al. J Med Genet. 2003 Jan;40(1):34-6. doi: 10.1136/jmg.40.1.34. J Med Genet. 2003. PMID: 12525539 Free PMC article.

10

Re-evaluation of kyphomelic dysplasia.

Le Merrer M, Cormier Daire V, Maroteaux P. Le Merrer M, et al. Am J Med Genet A. 2003 Jul 15;120A(2):289-91. doi: 10.1002/ajmg.a.20035. Am J Med Genet A. 2003. PMID: 12833417 No abstract available.

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