Aymé S - Search Results

1

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.

2

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.

3

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.

4

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.

5

Fryns syndrome: report on 8 new cases.

Aymé S, Julian C, Gambarelli D, Mariotti B, Luciani A, Sudan N, Maurin N, Philip N, Serville F, Carles D, et al. Aymé S, et al. Clin Genet. 1989 Mar;35(3):191-201. doi: 10.1111/j.1399-0004.1989.tb02927.x. Clin Genet. 1989. PMID: 2650934 Review.

6

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

7

Prevalence of 22q11 microdeletion.

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.

8

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.

9

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.

10

Walker-Warburg syndrome: a report of 3 cases.

Denis D, Gambarelli D, Luciani A, Aymé S, Philip N, Saracco JB. Denis D, et al. Among authors: ayme s. Ophthalmologica. 1993;207(3):113-6. doi: 10.1159/000310416. Ophthalmologica. 1993. PMID: 8278176

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