Munnich A - Search Results

1

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

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

Contribution to carrier detection and genetic counselling in X linked retinoschisis.

Kaplan J, Pelet A, Hentati H, Jeanpierre M, Briard ML, Journel H, Munnich A, Dufier JL. Kaplan J, et al. Among authors: munnich a. J Med Genet. 1991 Jun;28(6):383-8. doi: 10.1136/jmg.28.6.383. J Med Genet. 1991. PMID: 1678432 Free PMC article.

4

Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q.

Hazan J, Lamy C, Melki J, Munnich A, de Recondo J, Weissenbach J. Hazan J, et al. Among authors: munnich a. Nat Genet. 1993 Oct;5(2):163-7. doi: 10.1038/ng1093-163. Nat Genet. 1993. PMID: 8252041

5

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.

6

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.

Burlet P, Bürglen L, Clermont O, Lefebvre S, Viollet L, Munnich A, Melki J. Burlet P, et al. Among authors: munnich a. J Med Genet. 1996 Apr;33(4):281-3. doi: 10.1136/jmg.33.4.281. J Med Genet. 1996. PMID: 8730281 Free PMC article.

7

No evidence of genetic heterogeneity in dominant optic atrophy.

Bonneau D, Souied E, Gerber S, Rozet JM, D'Haens E, Journel H, Plessis G, Weissenbach J, Munnich A, Kaplan J. Bonneau D, et al. Among authors: munnich a. J Med Genet. 1995 Dec;32(12):951-3. doi: 10.1136/jmg.32.12.951. J Med Genet. 1995. PMID: 8825922 Free PMC article.

8

Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome.

Briault S, Odent S, Lucas J, Le Merrer M, Turleau C, Munnich A, Moraine C. Briault S, et al. Among authors: munnich a. Am J Med Genet. 1999 Sep 10;86(2):112-4. doi: 10.1002/(sici)1096-8628(19990910)86:2<112::aid-ajmg4>3.0.co;2-3. Am J Med Genet. 1999. PMID: 10449643

9

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. Among authors: munnich a. Am J Med Genet. 2000 Apr 10;91(4):273-6. Am J Med Genet. 2000. PMID: 10766982

10

Trinucleotide repeat polymorphism at the D5S556 locus.

Burlet P, Abdelhak S, Pascal F, Clermont O, Paul B, Munnich A, Melki J. Burlet P, et al. Among authors: munnich a. Hum Mol Genet. 1993 Aug;2(8):1328. doi: 10.1093/hmg/2.8.1328. Hum Mol Genet. 1993. PMID: 8401523 No abstract available.

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