Munnich A - Search Results

1

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin.

Hanein S, Perrault I, Olsen P, Lopponen T, Hietala M, Gerber S, Jeanpierre M, Barbet F, Ducroq D, Hakiki S, Munnich A, Rozet JM, Kaplan J. Hanein S, et al. Among authors: munnich a. Hum Mutat. 2002 Oct;20(4):322-3. doi: 10.1002/humu.9067. Hum Mutat. 2002. PMID: 12325031

2

Site specific screening for point mutations in ornithine transcarbamylase deficiency.

Feldmann D, Rozet JM, Pelet A, Hentzen D, Briand P, Hubert P, Largilliere C, Rabier D, Farriaux JP, Munnich A. Feldmann D, et al. Among authors: munnich a. J Med Genet. 1992 Jul;29(7):471-5. J Med Genet. 1992. PMID: 1353535 Free PMC article.

3

[Molecular genetics and prenatal diagnosis].

Lyonnet S, Rozet JM, Martin C, Munnich A. Lyonnet S, et al. Among authors: munnich a. Pediatrie. 1992;47(5):359-63. Pediatrie. 1992. PMID: 1359503 French.

4

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.

5

[Molecular genetics and prenatal diagnosis. Status and perspectives].

Munnich A, Lyonnet S, Kaplan J, Briard ML. Munnich A, et al. Ann Pediatr (Paris). 1991 Dec;38(10):651-4. Ann Pediatr (Paris). 1991. PMID: 1772203 Review. French. No abstract available.

6

Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity.

Kaplan J, Guasconi G, Bonneau D, Melki J, Briard ML, Munnich A, Dufier JL, Frézal J. Kaplan J, et al. Among authors: munnich a. Ann Genet. 1990;33(2):105-8. Ann Genet. 1990. PMID: 1978628

7

Clinical and genetic heterogeneity in retinitis pigmentosa.

Kaplan J, Bonneau D, Frézal J, Munnich A, Dufier JL. Kaplan J, et al. Among authors: munnich a. Hum Genet. 1990 Oct;85(6):635-42. doi: 10.1007/BF00193589. Hum Genet. 1990. PMID: 2227956

8

[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.

9

Exclusion of linkage between D3S47 (C17) and ADRPII gene in two large families of moderate autosomal dominant retinitis pigmentosa: evidence for genetic heterogeneity.

Kaplan J, Guasconi G, Dufier JL, Michel-Awad A, David A, Munnich A, Frezal J. Kaplan J, et al. Among authors: munnich a. Ann Genet. 1990;33(3):152-4. Ann Genet. 1990. PMID: 2288459

10

[Genetic counseling in ornithine carbamoyltransferase deficiency].

Pelet A, Toumas E, Rabier D, Kaplan J, Kamoun P, Frezal J, Saudubray JM, Munnich A. Pelet A, et al. Among authors: munnich a. Ann Biol Clin (Paris). 1988;46(7):455-9. Ann Biol Clin (Paris). 1988. PMID: 2903704 French.

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