Human Genome Epidemiology Literature Finder
Records 1 - 2 (of 2 Records) |
Query Trace: Mental Retardation and NPHP1[original query] |
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The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. American journal of human genetics 2004 Jul 75 (1): 82-91. Parisi Melissa A, Bennett Craig L, Eckert Melissa L, Dobyns William B, Gleeson Joseph G, Shaw Dennis W W, McDonald Ruth, Eddy Allison, Chance Phillip F, Glass Ian |
High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. Journal of the American Society of Nephrology : JASN 2007 May 18 (5): 1566-75. Tory Kálmán, Lacoste Tiphanie, Burglen Lydie, Morinière Vincent, Boddaert Nathalie, Macher Marie-Alice, Llanas Brigitte, Nivet Hubert, Bensman Albert, Niaudet Patrick, Antignac Corinne, Salomon Rémi, Saunier Soph |
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