Aymé S - Search Results

1

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.

2

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.

3

Prenatal diagnosis of Fryns' syndrome.

Pellissier MC, Philip N, Potier A, Scheiner C, Aymé S, Mattei JF, Giraud F. Pellissier MC, et al. Among authors: ayme s. Prenat Diagn. 1992 Apr;12(4):299-303. doi: 10.1002/pd.1970120410. Prenat Diagn. 1992. PMID: 1614987 Review.

4

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.

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

The acrocallosal syndrome.

Philip N, Apicella N, Lassman I, Ayme S, Mattei JF, Giraud F. Philip N, et al. Among authors: ayme s. Eur J Pediatr. 1988 Feb;147(2):206-8. doi: 10.1007/BF00442226. Eur J Pediatr. 1988. PMID: 3366141

7

Attitudes towards Down's syndrome: follow up of a cohort of 280 cases.

Julian-Reynier C, Aurran Y, Dumaret A, Maron A, Chabal F, Giraud F, Aymé S. Julian-Reynier C, et al. Among authors: ayme s. J Med Genet. 1995 Aug;32(8):597-9. doi: 10.1136/jmg.32.8.597. J Med Genet. 1995. PMID: 7473649 Free PMC article.

8

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.

9

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.

10

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases.

Philip N, Meinecke P, David A, Dean J, Ayme S, Clark R, Gross-Kieselstein E, Hosenfeld D, Moncla A, Muller D, et al. Philip N, et al. Among authors: ayme s. Clin Dysmorphol. 1992 Apr;1(2):63-77. Clin Dysmorphol. 1992. PMID: 1285376

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