Aymé S - Search Results

1

Tézenas Du Montcel S, Mendizabai H, Aymé S, Lévy A, Philip N. Tézenas Du Montcel S, et al. Among authors: ayme s. J Med Genet. 1996 Aug;33(8):719. doi: 10.1136/jmg.33.8.719. J Med Genet. 1996. PMID: 8863171 Free PMC article. No abstract available.

2

Possible homozygous Waardenburg syndrome in a fetus with exencephaly.

Aymé S, Philip N. Aymé S, et al. Am J Med Genet. 1995 Nov 6;59(2):263-5. doi: 10.1002/ajmg.1320590227. Am J Med Genet. 1995. PMID: 8588597 No abstract available.

3

Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation.

Aymé S, Philip N. Aymé S, et al. Am J Med Genet. 1997 Jun 13;70(3):333-5. doi: 10.1002/(sici)1096-8628(19970613)70:3<333::aid-ajmg24>3.0.co;2-l. Am J Med Genet. 1997. PMID: 9188678 No abstract available.

4

Cerebrofaciothoracic dysplasia: a new family.

Philip N, Guala A, Moncla A, Monlouis M, Aymé S, Giraud F. Philip N, et al. Among authors: ayme s. J Med Genet. 1992 Jul;29(7):497-9. J Med Genet. 1992. PMID: 1640432 Free PMC article.

5

Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.

Sigaudy S, Toutain A, Moncla A, Fredouille C, Bourlière B, Ayme S, Philip N. Sigaudy S, et al. Among authors: ayme s. Am J Med Genet. 1998 Oct 30;80(1):16-24. Am J Med Genet. 1998. PMID: 9800907 Review.

6

Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

Verloes A, Aymé S, Gambarelli D, Gonzales M, Le Merrer M, Mulliez N, Philip N, Roume J. Verloes A, et al. Among authors: ayme s. J Med Genet. 1991 May;28(5):297-303. doi: 10.1136/jmg.28.5.297. J Med Genet. 1991. PMID: 1865466 Free PMC article. Review.

7

A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome.

Gilbert-Dussardier B, Bonneau D, Gigarel N, Le Merrer M, Bonnet D, Philip N, Serville F, Verloes A, Rossi A, Aymé S, et al. Gilbert-Dussardier B, et al. Among authors: ayme s. Am J Hum Genet. 1995 Feb;56(2):542-4. Am J Hum Genet. 1995. PMID: 7847392 Free PMC article. No abstract available.

8

Impact of prenatal diagnosis by ultrasound on the prevalence of congenital anomalies at birth in southern France.

Julian-Reynier C, Philip N, Scheiner C, Aurran Y, Chabal F, Maron A, Gombert A, Aymé S. Julian-Reynier C, et al. Among authors: ayme s. J Epidemiol Community Health. 1994 Jun;48(3):290-6. doi: 10.1136/jech.48.3.290. J Epidemiol Community Health. 1994. PMID: 8051530 Free PMC article.

9

Fine-Lubinsky syndrome: a fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation.

Aymé S, Philip N. Aymé S, et al. Clin Dysmorphol. 1996 Jan;5(1):55-60. doi: 10.1097/00019605-199601000-00008. Clin Dysmorphol. 1996. PMID: 8867660

10

Epidemiological study of congenital diaphragmatic defects with special reference to aetiology.

Philip N, Gambarelli D, Guys JM, Camboulives J, Ayme S. Philip N, et al. Among authors: ayme s. Eur J Pediatr. 1991 Aug;150(10):726-9. doi: 10.1007/BF01958765. Eur J Pediatr. 1991. PMID: 1915486

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