Munnich A - Search Results

1

Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype.

Joly G, Lapierre JM, Ozilou C, Gosset P, Aurias A, de Blois MC, Prieur M, Raoul O, Colleaux L, Munnich A, Romana S, Vekemans M, Turleau C. Joly G, et al. Among authors: munnich a. Clin Genet. 2001 Sep;60(3):212-9. doi: 10.1034/j.1399-0004.2001.600307.x. Clin Genet. 2001. PMID: 11595023

2

Parental origin of the X chromosomes in Rett syndrome.

Benedetti L, Munnich A, Melki J, Tardieu M, Turleau C. Benedetti L, et al. Among authors: munnich a. Am J Med Genet. 1992 Sep 1;44(1):121-3. doi: 10.1002/ajmg.1320440131. Am J Med Genet. 1992. PMID: 1355631 No abstract available.

3

Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?

Lyonnet S, Schwartz G, Gatin G, de Prost Y, Munnich A, Le Merrer M. Lyonnet S, et al. Among authors: munnich a. J Med Genet. 1992 Jan;29(1):68-9. doi: 10.1136/jmg.29.1.68. J Med Genet. 1992. PMID: 1552551 Free PMC article.

4

[Prenatal diagnosis of various hereditary blinding diseases].

Michel-Awad A, Kaplan J, Briard ML, Turleau C, de Grouchy J, Munnich A, Dufier JL, Frezal J. Michel-Awad A, et al. Among authors: munnich a. Ophtalmologie. 1990 May-Jun;4(3):237-9. Ophtalmologie. 1990. PMID: 2250955 French.

5

Rett phenotype with X/autosome translocation: possible mapping to the short arm of chromosome X.

Journel H, Melki J, Turleau C, Munnich A, de Grouchy J. Journel H, et al. Among authors: munnich a. Am J Med Genet. 1990 Jan;35(1):142-7. doi: 10.1002/ajmg.1320350130. Am J Med Genet. 1990. PMID: 2301467

6

Filippi syndrome: a new case with skeletal abnormalities.

Héron D, Billette de Villemeur T, Munnich A, Lyonnet S. Héron D, et al. Among authors: munnich a. J Med Genet. 1995 Aug;32(8):659-61. doi: 10.1136/jmg.32.8.659. J Med Genet. 1995. PMID: 7473664 Free PMC article. Review.

7

Upper limb malformations in DiGeorge syndrome.

Cormier-Daire V, Iserin L, Théophile D, Sidi D, Vervel C, Padovani JP, Vekemans M, Munnich A, Lyonnet S. Cormier-Daire V, et al. Among authors: munnich a. Am J Med Genet. 1995 Mar 13;56(1):39-41. doi: 10.1002/ajmg.1320560111. Am J Med Genet. 1995. PMID: 7747784

8

The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).

Saugier-Veber P, Abadie V, Moncla A, Mathieu M, Piussan C, Turleau C, Mattei JF, Munnich A, Lyonnet S. Saugier-Veber P, et al. Among authors: munnich a. Am J Hum Genet. 1993 Jun;52(6):1040-5. Am J Hum Genet. 1993. PMID: 8503439 Free PMC article.

9

Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association.

Bahuau M, Flintoff W, Assouline B, Lyonnet S, Le Merrer M, Prieur M, Guilloud-Bataille M, Feingold N, Munnich A, Vidaud M, Vidaud D. Bahuau M, et al. Among authors: munnich a. Am J Med Genet. 1996 Dec 18;66(3):347-55. doi: 10.1002/(SICI)1096-8628(19961218)66:3<347::AID-AJMG20>3.0.CO;2-L. Am J Med Genet. 1996. PMID: 8985499

10

Microsatellite DNA markers detects 95% of chromosome 22q11 deletions.

Bonnet D, Cormier-Daire V, Kachaner J, Szezepanski I, Souillard P, Sidi D, Munnich A, Lyonnet S. Bonnet D, et al. Among authors: munnich a. Am J Med Genet. 1997 Jan 20;68(2):182-4. Am J Med Genet. 1997. PMID: 9028455

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