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Page 1
A gene for familial hemiplegic migraine maps to chromosome 19.
Joutel A, Bousser MG, Biousse V, Labauge P, Chabriat H, Nibbio A, Maciazek J, Meyer B, Bach MA, Weissenbach J, et al. Joutel A, et al. Among authors: weissenbach j. Nat Genet. 1993 Sep;5(1):40-5. doi: 10.1038/ng0993-40. Nat Genet. 1993. PMID: 8220421
Notch3 mutations in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a mendelian condition causing stroke and vascular dementia.
Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, Alamowitch S, Domenga V, Cécillion M, Maréchal E, Maciazek J, Vayssière C, Cruaud C, Cabanis EA, Ruchoux MM, Weissenbach J, Bach JF, Bousser MG, Tournier-Lasserve E. Joutel A, et al. Among authors: weissenbach j. Ann N Y Acad Sci. 1997 Sep 26;826:213-7. doi: 10.1111/j.1749-6632.1997.tb48472.x. Ann N Y Acad Sci. 1997. PMID: 9329692 Review.
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia.
Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, Alamowitch S, Domenga V, Cécillion M, Marechal E, Maciazek J, Vayssiere C, Cruaud C, Cabanis EA, Ruchoux MM, Weissenbach J, Bach JF, Bousser MG, Tournier-Lasserve E. Joutel A, et al. Among authors: weissenbach j. Nature. 1996 Oct 24;383(6602):707-10. doi: 10.1038/383707a0. Nature. 1996. PMID: 8878478
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients.
Joutel A, Vahedi K, Corpechot C, Troesch A, Chabriat H, Vayssière C, Cruaud C, Maciazek J, Weissenbach J, Bousser MG, Bach JF, Tournier-Lasserve E. Joutel A, et al. Among authors: weissenbach j. Lancet. 1997 Nov 22;350(9090):1511-5. doi: 10.1016/S0140-6736(97)08083-5. Lancet. 1997. PMID: 9388399
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
505 results