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Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, Calvas P, Dollfus H, Hamel C, Lopponen T, Munier F, Santos L, Shalev S, Zafeiriou D, Dufier JL, Munnich A, Rozet JM, Kaplan J. Hanein S, et al. Among authors: munnich a. Hum Mutat. 2004 Apr;23(4):306-17. doi: 10.1002/humu.20010. Hum Mutat. 2004. PMID: 15024725 Free article.
[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.
mtDNA heteroplasmy in Leber hereditary optic neuroretinopathy.
Cormier V, Rötig A, Geny C, Cesaro P, Dufier JL, Munnich A. Cormier V, et al. Among authors: munnich a. Am J Hum Genet. 1991 Apr;48(4):813-4. Am J Hum Genet. 1991. PMID: 2064658 Free PMC article. No abstract available.
[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.
1,068 results