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Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.
Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S, Saunier S, Salomon R, Gonzales M, Rattenberry E, Esculpavit C, Toutain A, Moraine C, Parent P, Marcorelles P, Dauge MC, Roume J, Le Merrer M, Meiner V, Meir K, Menez F, Beaufrère AM, Francannet C, Tantau J, Sinico M, Dumez Y, MacDonald F, Munnich A, Lyonnet S, Gubler MC, Génin E, Johnson CA, Vekemans M, Encha-Razavi F, Attié-Bitach T. Baala L, et al. Among authors: toutain a. Am J Hum Genet. 2007 Jul;81(1):170-9. doi: 10.1086/519494. Epub 2007 Jun 4. Am J Hum Genet. 2007. PMID: 17564974 Free PMC article.
Monosomy 6q: report on four new cases.
Valtat C, Galliano D, Mettey R, Toutain A, Moraine C. Valtat C, et al. Among authors: toutain a. Clin Genet. 1992 Mar;41(3):159-66. doi: 10.1111/j.1399-0004.1992.tb03655.x. Clin Genet. 1992. PMID: 1563091 Review.
A gene for hereditary multiple exostoses maps to chromosome 19p.
Le Merrer M, Legeai-Mallet L, Jeannin PM, Horsthemke B, Schinzel A, Plauchu H, Toutain A, Achard F, Munnich A, Maroteaux P. Le Merrer M, et al. Among authors: toutain a. Hum Mol Genet. 1994 May;3(5):717-22. doi: 10.1093/hmg/3.5.717. Hum Mol Genet. 1994. PMID: 8081357
275 results