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Results: 1-12 |
Results: 12
A HOMEOBOX GENE, HLXB9, IS THE MAJOR LOCUS FOR DOMINANTLY INHERITED SACRAL AGENESIS
Authors: ROSS AJ RUIZPEREZ V WANG YM HAGAN DM SCHERER S LYNCH SA LINDSAY S CUSTARD E BELLONI E WILSON DI WADEY R GOODMAN F ORSTAVIK KH MONCLAIR T ROBSON S REARDON W BURN J SCAMBLER P STRACHAN T
Citation: Aj. Ross et al., A HOMEOBOX GENE, HLXB9, IS THE MAJOR LOCUS FOR DOMINANTLY INHERITED SACRAL AGENESIS, Nature genetics, 20(4), 1998, pp. 358-361
CLONING AND MAPPING OF MURINE DGCR2 AND ITS HOMOLOGY TO THE SEZ-12 SEIZURE-RELATED PROTEIN
Authors: TAYLOR C WADEY R ODONNELL H ROBERTS C MATTEI MG KIMBER WL WYNSHAWBORIS A SCAMBLER PJ
Citation: C. Taylor et al., CLONING AND MAPPING OF MURINE DGCR2 AND ITS HOMOLOGY TO THE SEZ-12 SEIZURE-RELATED PROTEIN, Mammalian genome, 8(5), 1997, pp. 371-375
MOLECULAR DEFINITION OF 22Q11 DELETIONS IN 151 VELO-CARDIO-FACIAL-SYNDROME PATIENTS
Authors: CARLSON C SIROTKIN H PANDITA R GOLDBERG R MCKIE J WADEY R PATANJALI SR WEISSMAN SM ANYANEYEBOA K WARBURTON D SCAMBLER P SHPRINTZEN R KUCHERLAPATI R MORROW BE
Citation: C. Carlson et al., MOLECULAR DEFINITION OF 22Q11 DELETIONS IN 151 VELO-CARDIO-FACIAL-SYNDROME PATIENTS, American journal of human genetics, 61(3), 1997, pp. 620-629
IDENTIFICATION OF A NOVEL TRANSCRIPT DISRUPTED BY A BALANCED TRANSLOCATION ASSOCIATED WITH DIGEORGE-SYNDROME
Authors: SUTHERLAND HF WADEY R MCKIE JM TAYLOR C ATIF U JOHNSTONE KA HALFORD S KIM UJ GOODSHIP J BALDINI A SCAMBLER PJ
Citation: Hf. Sutherland et al., IDENTIFICATION OF A NOVEL TRANSCRIPT DISRUPTED BY A BALANCED TRANSLOCATION ASSOCIATED WITH DIGEORGE-SYNDROME, American journal of human genetics, 59(1), 1996, pp. 23-31
ISOLATION OF A GENE ENCODING AN INTEGRAL MEMBRANE-PROTEIN FROM THE VICINITY OF A BALANCED TRANSLOCATION BREAKPOINT ASSOCIATED WITH DIGEORGE-SYNDROME
Authors: WADEY R DAW S TAYLOR C ATIF U KAMATH S HALFORD S ODONNELL H WILSON D GOODSHIP J BURN J SCAMBLER P
Citation: R. Wadey et al., ISOLATION OF A GENE ENCODING AN INTEGRAL MEMBRANE-PROTEIN FROM THE VICINITY OF A BALANCED TRANSLOCATION BREAKPOINT ASSOCIATED WITH DIGEORGE-SYNDROME, Human molecular genetics, 4(6), 1995, pp. 1027-1033
A HIGH-DENSITY YAC CONTIG MAP OF HUMAN-CHROMOSOME-22
Authors: COLLINS JE COLE CG SMINK LJ GARRETT CL LEVERSHA MA SODERLUND CA MASLEN GL EVERETT LA RICE KM COFFEY AJ GREGORY SG GWILLIAM R DUNHAM A DAVIES AF HASSOCK S TODD CM LEHRACH H HULSEBOS JM WEISSENBACH J MORROW B KUCHERLAPATI RS WADEY R SCAMBLER PJ KIM UJ SIMON MI PEYRARD M XIE YG CARTER NP DURBIN R DUMANSKI JP BENTLEY DR DUNHAM I
Citation: Je. Collins et al., A HIGH-DENSITY YAC CONTIG MAP OF HUMAN-CHROMOSOME-22, Nature, 377, 1995, pp. 367-379
22Q11 - PHYSICAL, COMPARATIVE AND DISEASE LOCUS MAPPING
Authors: HALFORD S ODONNELL H DAW S WADEY R RAYLOR K LINDSAY E BALDINI A COLLINS J DUNHAM I BENTLEY D SCAMBLER P
Citation: S. Halford et al., 22Q11 - PHYSICAL, COMPARATIVE AND DISEASE LOCUS MAPPING, Cytogenetics and cell genetics, 67(4), 1994, pp. 292-292
ISOLATION OF A PUTATIVE TRANSCRIPTIONAL REGULATOR FROM THE REGION OF 22Q11 DELETED IN DIGEORGE-SYNDROME, SHPRINTZEN SYNDROME AND FAMILIAL CONGENITAL HEART-DISEASE
Authors: HALFORD S WADEY R ROBERTS C DAW SCM WHITING JA ODONNELL H DUNHAM I BENTLEY D LINDSAY E BALDINI A FRANCIS F LEHRACH H WILLIAMSON R WILSON DI GOODSHIP J CROSS I BURNS J SCAMBLER PJ
Citation: S. Halford et al., ISOLATION OF A PUTATIVE TRANSCRIPTIONAL REGULATOR FROM THE REGION OF 22Q11 DELETED IN DIGEORGE-SYNDROME, SHPRINTZEN SYNDROME AND FAMILIAL CONGENITAL HEART-DISEASE, Human molecular genetics, 2(12), 1993, pp. 2099-2107
ISOLATION OF A GENE EXPRESSED DURING EARLY EMBRYOGENESIS FROM THE REGION OF 22Q11 COMMONLY DELETED IN DIGEORGE-SYNDROME
Authors: HALFORD S WILSON DI DAW SCM ROBERTS C WADEY R KAMATH S WICKREMASINGHE A BURN J GOODSHIP J MATTEI MG MOORMON AFM SCAMBLER PJ
Citation: S. Halford et al., ISOLATION OF A GENE EXPRESSED DURING EARLY EMBRYOGENESIS FROM THE REGION OF 22Q11 COMMONLY DELETED IN DIGEORGE-SYNDROME, Human molecular genetics, 2(10), 1993, pp. 1577-1582
MOLECULAR CYTOGENETIC CHARACTERIZATION OF THE DIGEORGE-SYNDROME REGION USING FLUORESCENCE IN-SITU HYBRIDIZATION
Authors: LINDSAY EA HALFORD S WADEY R SCAMBLER PJ BALDINI A
Citation: Ea. Lindsay et al., MOLECULAR CYTOGENETIC CHARACTERIZATION OF THE DIGEORGE-SYNDROME REGION USING FLUORESCENCE IN-SITU HYBRIDIZATION, Genomics, 17(2), 1993, pp. 403-407
ISOLATION OF A NEW MARKER AND CONSERVED SEQUENCES CLOSE TO THE DIGEORGE-SYNDROME MARKER HP500 (D22S134)
Authors: WADEY R DAW S WICKREMASINGHE A ROBERTS C WILSON D GOODSHIP J BURN J HALFORD S SCAMBLER PJ
Citation: R. Wadey et al., ISOLATION OF A NEW MARKER AND CONSERVED SEQUENCES CLOSE TO THE DIGEORGE-SYNDROME MARKER HP500 (D22S134), Journal of Medical Genetics, 30(10), 1993, pp. 818-821
CONOTRUNCAL ANOMALY FACE SYNDROME IS ASSOCIATED WITH A DELETION WITHIN CHROMOSOME-22Q11
Authors: BURN J TAKAO A WILSON D CROSS I MOMMA K WADEY R SCAMBLER P GOODSHIP J
Citation: J. Burn et al., CONOTRUNCAL ANOMALY FACE SYNDROME IS ASSOCIATED WITH A DELETION WITHIN CHROMOSOME-22Q11, Journal of Medical Genetics, 30(10), 1993, pp. 822-824
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