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Clinical and genetic heterogeneity of hypochondroplasia.
Rousseau F, Bonaventure J, Legeai-Mallet L, Schmidt H, Weissenbach J, Maroteaux P, Munnich A, Le Merrer M. Rousseau F, et al. Among authors: weissenbach j. J Med Genet. 1996 Sep;33(9):749-52. doi: 10.1136/jmg.33.9.749. J Med Genet. 1996. PMID: 8880574 Free PMC article.
A gene for achondroplasia-hypochondroplasia maps to chromosome 4p.
Le Merrer M, Rousseau F, Legeai-Mallet L, Landais JC, Pelet A, Bonaventure J, Sanak M, Weissenbach J, Stoll C, Munnich A, et al. Le Merrer M, et al. Among authors: weissenbach j. Nat Genet. 1994 Mar;6(3):318-21. doi: 10.1038/ng0394-318. Nat Genet. 1994. PMID: 8012398
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: weissenbach j. 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.
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10.
Lyonnet S, Bolino A, Pelet A, Abel L, Nihoul-Fékété C, Briard ML, Mok-Siu V, Kaariainen H, Martucciello G, Lerone M, Puliti A, Luo Y, Weissenbach J, Devoto M, Munnich A, Romeo G. Lyonnet S, et al. Among authors: weissenbach j. Nat Genet. 1993 Aug;4(4):346-50. doi: 10.1038/ng0893-346. Nat Genet. 1993. PMID: 8401580
503 results