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5. Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation. Jin H; Gardner RJ; Viswesvaraiah R; Muntoni F; Roberts RG Eur J Hum Genet; 2000 Feb; 8(2):87-94. PubMed ID: 10757639 [TBL] [Abstract][Full Text] [Related]
6. Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. Poloschek CM; Kloeckener-Gruissem B; Hansen LL; Bach M; Berger W Invest Ophthalmol Vis Sci; 2008 Sep; 49(9):4096-104. PubMed ID: 18487380 [TBL] [Abstract][Full Text] [Related]
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9. Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein. Lee HK; Song MH; Kang M; Lee JT; Kong KA; Choi SJ; Lee KY; Venselaar H; Vriend G; Lee WS; Park HJ; Kwon TK; Bok J; Kim UK Physiol Genomics; 2009 Nov; 39(3):195-201. PubMed ID: 19671658 [TBL] [Abstract][Full Text] [Related]
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12. Isolation and characterization of a novel gene from the DiGeorge chromosomal region that encodes for a mediator subunit. Berti L; Mittler G; Przemeck GK; Stelzer G; Günzler B; Amati F; Conti E; Dallapiccola B; Hrabé de Angelis M; Novelli G; Meisterernst M Genomics; 2001 Jun; 74(3):320-32. PubMed ID: 11414760 [TBL] [Abstract][Full Text] [Related]
13. Cloning, characterization, and chromosome mapping of RPS6KC1, a novel putative member of the ribosome protein S6 kinase family, to chromosome 12q12-q13.1. Zhang H; Yu L; Mao N; Fu Q; Tu Q; Gao J; Zhao S Genomics; 1999 Nov; 61(3):314-8. PubMed ID: 10552933 [TBL] [Abstract][Full Text] [Related]
14. Molecular cloning and characterization of TRPC5 (HTRP5), the human homologue of a mouse brain receptor-activated capacitative Ca2+ entry channel. Sossey-Alaoui K; Lyon JA; Jones L; Abidi FE; Hartung AJ; Hane B; Schwartz CE; Stevenson RE; Srivastava AK Genomics; 1999 Sep; 60(3):330-40. PubMed ID: 10493832 [TBL] [Abstract][Full Text] [Related]
15. A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Carrié A; Jun L; Bienvenu T; Vinet MC; McDonell N; Couvert P; Zemni R; Cardona A; Van Buggenhout G; Frints S; Hamel B; Moraine C; Ropers HH; Strom T; Howell GR; Whittaker A; Ross MT; Kahn A; Fryns JP; Beldjord C; Marynen P; Chelly J Nat Genet; 1999 Sep; 23(1):25-31. PubMed ID: 10471494 [TBL] [Abstract][Full Text] [Related]
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20. Deletion mapping and X inactivation analysis of a non-specific mental retardation gene at Xp21.3-Xp22.11. Muroya K; Kinoshita E; Kamimaki T; Matsuo N; Yorifugi T; Ogata T J Med Genet; 1999 Mar; 36(3):187-91. PubMed ID: 10204842 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]