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Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.
Hum Mutat. 1996;8(1):74-6. doi: 10.1002/(SICI)1098-1004(1996)8:1<74::AID-HUMU11>3.0.CO;2-O.
Hum Mutat. 1996.
PMID: 8807340
No abstract available.
Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia.
Calvas P, Ségues B, Rozet JM, Rabier D, Bonnefond JP, Munnich A.
Calvas P, et al. Among authors: bonnefond jp.
Hum Mutat. 1998;Suppl 1:S81-4. doi: 10.1002/humu.1380110128.
Hum Mutat. 1998.
PMID: 9452049
No abstract available.
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Retinal branch vein occlusion associated with macular dystrophy, maternally inherited diabetes, and deafness.
Souied E, Mashhour B, Morel X, Cohen Y, Bonnefond JP, Munnich A, Chauvaud D, Renard G, Kaplan J.
Souied E, et al. Among authors: bonnefond jp.
Ophthalmic Genet. 1997 Sep;18(3):157-60. doi: 10.3109/13816819709057130.
Ophthalmic Genet. 1997.
PMID: 9361314
No abstract available.
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Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.
Philippe C, Villard L, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T.
Philippe C, et al. Among authors: bonnefond jp.
Eur J Med Genet. 2006 Jan-Feb;49(1):9-18. doi: 10.1016/j.ejmg.2005.04.003.
Eur J Med Genet. 2006.
PMID: 16473305
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The incidence of Rett syndrome in France.
Bienvenu T, Philippe C, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Feingold J, Chelly J, Villard L.
Bienvenu T, et al. Among authors: bonnefond jp.
Pediatr Neurol. 2006 May;34(5):372-5. doi: 10.1016/j.pediatrneurol.2005.10.013.
Pediatr Neurol. 2006.
PMID: 16647997
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