Faivre L - Search Results

1

Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patients.

Faivre L, Cormier-Daire V, Young I, Bracq H, Finidori G, Padovani JP, Odent S, Lachman R, Munnich A, Maroteaux P, Le Merrer M. Faivre L, et al. Am J Med Genet A. 2004 Jan 1;124A(1):54-9. doi: 10.1002/ajmg.a.20441. Am J Med Genet A. 2004. PMID: 14679587

2

Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature.

Faivre L, Morichon-Delvallez N, Viot G, Narcy F, Loison S, Mandelbrot L, Aubry MC, Raclin V, Edery P, Munnich A, Vekemans M. Faivre L, et al. Prenat Diagn. 1998 Oct;18(10):1055-60. doi: 10.1002/(sici)1097-0223(1998100)18:10<1055::aid-pd405>3.0.co;2-i. Prenat Diagn. 1998. PMID: 9826897 Review.

3

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.

4

Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature.

Faivre L, Morichon-Delvallez N, Viot G, Martinovic J, Pinson MP, Aubry JP, Raclin V, Edery P, Dumez Y, Munnich A, Vekemans M. Faivre L, et al. Prenat Diagn. 1999 Jan;19(1):49-53. Prenat Diagn. 1999. PMID: 10073907 Review.

5

Prenatal diagnosis of a satellited non-acrocentric chromosome derived from a maternal translocation (10;13)(p13;p12) and review of literature.

Faivre L, Morichon-Delvallez N, Viot G, Larget-Piet A, Narcy F, Turleau C, Pinson MP, Dumez Y, Munnich A, Vekemans M. Faivre L, et al. Prenat Diagn. 1999 Mar;19(3):282-6. Prenat Diagn. 1999. PMID: 10210132 Review.

6

Can Hutchinson-Gilford progeria syndrome be a neonatal condition?

Faivre L, Khau Van Kien P, Madinier-Chappat N, Nivelon-Chevallier A, Beer F, LeMerrer M. Faivre L, et al. Am J Med Genet. 1999 Dec 22;87(5):450-2; author reply 453-4. doi: 10.1002/(sici)1096-8628(19991222)87:5<450::aid-ajmg16>3.0.co;2-t. Am J Med Genet. 1999. PMID: 10594888 No abstract available.

7

Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type.

Faivre L, Le Merrer M, Megarbane A, Gilbert B, Mortier G, Cusin V, Munnich A, Maroteaux P, Cormier-Daire V. Faivre L, et al. J Med Genet. 2000 Jan;37(1):52-4. doi: 10.1136/jmg.37.1.52. J Med Genet. 2000. PMID: 10633136 Free PMC article.

8

Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism.

Faivre L, Viot G, Prieur M, Turleau C, Gosset P, Romana S, Munnich A, Vekemans M, Cormier-Daire V. Faivre L, et al. Am J Med Genet. 2000 Apr 10;91(4):273-6. Am J Med Genet. 2000. PMID: 10766982

9

Cerebellar ataxia and mental retardation in a child with an inherited satellited chromosome 4q.

Faivre L, Radford I, Viot G, Edery P, Munnich A, Tardieu M, Vekemans M. Faivre L, et al. Ann Genet. 2000 Jan-Mar;43(1):35-8. doi: 10.1016/s0003-3995(00)00016-2. Ann Genet. 2000. PMID: 10818219

10

Improvement of cystic fibrosis using antitumoral drugs: a hypothesis.

Faivre L, Bonnefont JP, Lyonnet S, Munnich A, Vekemans M. Faivre L, et al. Med Hypotheses. 2000 Apr;54(4):580-1. doi: 10.1054/mehy.1999.0899. Med Hypotheses. 2000. PMID: 10859642

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