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Results: 1-25 | 26-37
Results: 1-25/37
HIRA, A MAMMALIAN HOMOLOG OF SACCHAROMYCES-CEREVISIAE TRANSCRIPTIONALCO-REPRESSORS, INTERACTS WITH PAX3
Authors: MAGNAGHI P ROBERTS C LORAIN S LIPINSKI M SCAMBLER PJ
Citation: P. Magnaghi et al., HIRA, A MAMMALIAN HOMOLOG OF SACCHAROMYCES-CEREVISIAE TRANSCRIPTIONALCO-REPRESSORS, INTERACTS WITH PAX3, Nature genetics, 20(1), 1998, pp. 74-77
MUTATION AND DELETION OF THE PSEUDOAUTOSOMAL GENE SHOX CAUSE LERI-WEILL DYSCHONDROSTEOSIS
Authors: SHEARS DJ VASSAL HJ GOODMAN FR PALMER RW REARDON W SUPERTIFURGA A SCAMBLER PJ WINTER RM
Citation: Dj. Shears et al., MUTATION AND DELETION OF THE PSEUDOAUTOSOMAL GENE SHOX CAUSE LERI-WEILL DYSCHONDROSTEOSIS, Nature genetics, 19(1), 1998, pp. 70-73
DIRECT SELECTION OF CONSERVED CDNAS FROM THE DIGEORGE CRITICAL REGION- ISOLATION OF A NOVEL CDC45-LIKE GENE
Authors: MCKIE JM WADEY RB SUTHERLAND HF TAYLOR CL SCAMBLER PJ
Citation: Jm. Mckie et al., DIRECT SELECTION OF CONSERVED CDNAS FROM THE DIGEORGE CRITICAL REGION- ISOLATION OF A NOVEL CDC45-LIKE GENE, PCR methods and applications, 8(8), 1998, pp. 834-841
ES2, A GENE DELETED IN DIGEORGE-SYNDROME, ENCODES A NUCLEAR-PROTEIN AND IS EXPRESSED DURING EARLY MOUSE DEVELOPMENT, WHERE IT SHARES AN EXPRESSION DOMAIN WITH A GOOSECOID-LIKE GENE
Authors: LINDSAY EA HARVEY EL SCAMBLER PJ BALDINI A
Citation: Ea. Lindsay et al., ES2, A GENE DELETED IN DIGEORGE-SYNDROME, ENCODES A NUCLEAR-PROTEIN AND IS EXPRESSED DURING EARLY MOUSE DEVELOPMENT, WHERE IT SHARES AN EXPRESSION DOMAIN WITH A GOOSECOID-LIKE GENE, Human molecular genetics, 7(4), 1998, pp. 629-635
CLONING AND COMPARATIVE MAPPING OF THE DIGEORGE-SYNDROME CRITICAL REGION IN THE MOUSE
Authors: SUTHERLAND HF KIM UJ SCAMBLER PJ
Citation: Hf. Sutherland et al., CLONING AND COMPARATIVE MAPPING OF THE DIGEORGE-SYNDROME CRITICAL REGION IN THE MOUSE, Genomics (San Diego, Calif.), 52(1), 1998, pp. 37-43
MOLECULAR AND CLINICAL-STUDY OF 183 PATIENTS WITH CONOTRUNCAL ANOMALYFACE SYNDROME
Authors: MATSUOKA R KIMURA M SCAMBLER PJ MORROW BE IMAMURA S MINOSHIMA S SHIMIZU N YAMAGISHI H JOHO K WATANABE S OYAMA K SAJI T ANDO M TAKAO A MOMMA K
Citation: R. Matsuoka et al., MOLECULAR AND CLINICAL-STUDY OF 183 PATIENTS WITH CONOTRUNCAL ANOMALYFACE SYNDROME, Human genetics, 103(1), 1998, pp. 70-80
CHROMOSOME 22Q11.2 INTERSTITIAL DELETIONS AMONG CHILDHOOD-ONSET SCHIZOPHRENICS AND MULTIDIMENSIONALLY IMPAIRED
Authors: YAN WL JACOBSEN LK KRASNERWICH DM GUAN XY LENANE MC PAUL SP DALWADI HN ZHANG HG LONG RT KUMRA S MARTIN BM SCAMBLER PJ TRENT JM SIDRANSKY E GINNS EI RAPOPORT JL
Citation: Wl. Yan et al., CHROMOSOME 22Q11.2 INTERSTITIAL DELETIONS AMONG CHILDHOOD-ONSET SCHIZOPHRENICS AND MULTIDIMENSIONALLY IMPAIRED, American journal of medical genetics, 81(1), 1998, pp. 41-43
IDENTIFICATION OF THE COMPLETE CODING SEQUENCE AND GENOMIC ORGANIZATION OF THE TREACHER-COLLINS-SYNDROME GENE
Authors: DIXON J EDWARDS SJ ANDERSON I BRASS A SCAMBLER PJ DIXON MJ
Citation: J. Dixon et al., IDENTIFICATION OF THE COMPLETE CODING SEQUENCE AND GENOMIC ORGANIZATION OF THE TREACHER-COLLINS-SYNDROME GENE, PCR methods and applications, 7(3), 1997, pp. 223-234
CLONING AND DEVELOPMENTAL EXPRESSION ANALYSIS OF CHICK HIRA (CHIRA), A CANDIDATE GENE FOR DIGEORGE-SYNDROME
Authors: ROBERTS C DAW SCM HALFORD S SCAMBLER PJ
Citation: C. Roberts et al., CLONING AND DEVELOPMENTAL EXPRESSION ANALYSIS OF CHICK HIRA (CHIRA), A CANDIDATE GENE FOR DIGEORGE-SYNDROME, Human molecular genetics, 6(2), 1997, pp. 237-245
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
A HUMAN GENE SIMILAR TO DROSOPHILA-MELANOGASTER PEANUT MAPS TO THE DIGEORGE-SYNDROME REGION OF 22Q11
Authors: MCKIE JM SUTHERLAND HF HARVEY E KIM UJ SCAMBLER PJ
Citation: Jm. Mckie et al., A HUMAN GENE SIMILAR TO DROSOPHILA-MELANOGASTER PEANUT MAPS TO THE DIGEORGE-SYNDROME REGION OF 22Q11, Human genetics, 101(1), 1997, pp. 6-12
SPECTRUM OF CLINICAL-FEATURES ASSOCIATED WITH INTERSTITIAL CHROMOSOME22Q11 DELETIONS - A EUROPEAN COLLABORATIVE STUDY
Authors: RYAN AK GOODSHIP JA WILSON DI PHILIP N LEVY A SEIDEL H SCHUFFENHAUER S OECHSLER H BELOHRADSKY B PRIEUR M AURIAS A RAYMOND FL CLAYTONSMITH J HATCHWELL E MCKEOWN C BEEMER FA DALLAPICCOLA B NOVELLI G HURST JA IGNATIUS J GREEN AJ WINTER RM BRUETON L BRONDUMNIELSEN K STEWART F VANESSEN T PATTON M PATERSON J SCAMBLER PJ
Citation: Ak. Ryan et al., SPECTRUM OF CLINICAL-FEATURES ASSOCIATED WITH INTERSTITIAL CHROMOSOME22Q11 DELETIONS - A EUROPEAN COLLABORATIVE STUDY, Journal of Medical Genetics, 34(10), 1997, pp. 798-804
NOVEL LIMB PHENOTYPE SEGREGATING WITH DELETIONS IN HOXD13
Authors: GOODMAN F GIOVANNUCCIUZIELLI ML REARDON W WINTER RM SCAMBLER PJ
Citation: F. Goodman et al., NOVEL LIMB PHENOTYPE SEGREGATING WITH DELETIONS IN HOXD13, Journal of Medical Genetics, 34, 1997, pp. 41-41
A NOVEL INHERITED HUMAN LIMB MALFORMATION CAUSED BY DELETIONS IN HOXD13
Authors: GOODMAN FR GIOVANNUCCIUZIELLI ML REARDON W WINTER RM SCAMBLER PJ
Citation: Fr. Goodman et al., A NOVEL INHERITED HUMAN LIMB MALFORMATION CAUSED BY DELETIONS IN HOXD13, American journal of human genetics, 61(4), 1997, pp. 875-875
USING MOUSE MODELS FOR UNDERSTANDING THE GENETIC-BASIS OF HUMAN 22Q11MICRODELETION SYNDROMES
Authors: KIMBER WL HIROTSUNE S SUTHERLAND HF PACK S GARRETT L CHEN A SCAMBLER PJ WYNSHAWBORIS A
Citation: Wl. Kimber et al., USING MOUSE MODELS FOR UNDERSTANDING THE GENETIC-BASIS OF HUMAN 22Q11MICRODELETION SYNDROMES, American journal of human genetics, 61(4), 1997, pp. 886-886
COMPARATIVE MAPPING OF HU22Q11 AND THE CONSERVED SYNTENIC REGION OF MMU16 REVEALS DISRUPTION TO LINKAGE CONSERVATION
Authors: SUTHERLAND HF KIM UJ KIMBER WL WYNSHAWBORIS A SCAMBLER PJ
Citation: Hf. Sutherland et al., COMPARATIVE MAPPING OF HU22Q11 AND THE CONSERVED SYNTENIC REGION OF MMU16 REVEALS DISRUPTION TO LINKAGE CONSERVATION, American journal of human genetics, 61(4), 1997, pp. 1422-1422
THE NFE2L1 GENE MAPS TO DISTAL MOUSE CHROMOSOME-11
Authors: MCKIE J SCAMBLER PJ
Citation: J. Mckie et Pj. Scambler, THE NFE2L1 GENE MAPS TO DISTAL MOUSE CHROMOSOME-11, Mammalian genome, 7(1), 1996, pp. 89-89
A TRANSCRIPTION MAP IN THE CATCH22 CRITICAL REGION - IDENTIFICATION, MAPPING, AND ORDERING OF 4 NOVEL TRANSCRIPTS EXPRESSED IN HEART
Authors: LINDSAY EA RIZZU P ANTONACCI R JURECIC V DELMASMATA J LEE CC KIM UJ SCAMBLER PJ BALDINI A
Citation: Ea. Lindsay et al., A TRANSCRIPTION MAP IN THE CATCH22 CRITICAL REGION - IDENTIFICATION, MAPPING, AND ORDERING OF 4 NOVEL TRANSCRIPTS EXPRESSED IN HEART, Genomics, 32(1), 1996, pp. 104-112
CHARACTERIZATION OF A SHORT INTERSPERSED REPEAT (MERMAID) THAT HAS FAMILY MEMBERS ON HUMAN-CHROMOSOME-21 AND ELSEWHERE IN THE HUMAN GENOME
Authors: HOYLE J YULUG IG JOHNSTONE K SCAMBLER PJ FISHER EMC
Citation: J. Hoyle et al., CHARACTERIZATION OF A SHORT INTERSPERSED REPEAT (MERMAID) THAT HAS FAMILY MEMBERS ON HUMAN-CHROMOSOME-21 AND ELSEWHERE IN THE HUMAN GENOME, Human genetics, 97(1), 1996, pp. 117-120
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
CLONING OF THE HUMAN HEPARAN SULFATE-N-DEACETYLASE N-SULFOTRANSFERASEGENE FROM THE TREACHER-COLLINS SYNDROME CANDIDATE REGION AT 5Q32-Q33.1
Authors: DIXON J LOFTUS SK GLADWIN AJ SCAMBLER PJ WASMUTH JJ DIXON MJ
Citation: J. Dixon et al., CLONING OF THE HUMAN HEPARAN SULFATE-N-DEACETYLASE N-SULFOTRANSFERASEGENE FROM THE TREACHER-COLLINS SYNDROME CANDIDATE REGION AT 5Q32-Q33.1, Genomics, 26(2), 1995, pp. 239-244
A NOVEL C2H2 ZINC-FINGER PROTEIN GENE (ZNF16O) MAPS TO HUMAN-CHROMOSOME 19Q13.3-Q13.4
Authors: HALFORD S MATTEI MG DAW S SCAMBLER PJ
Citation: S. Halford et al., A NOVEL C2H2 ZINC-FINGER PROTEIN GENE (ZNF16O) MAPS TO HUMAN-CHROMOSOME 19Q13.3-Q13.4, Genomics, 25(1), 1995, pp. 322-323
SUBMICROSCOPIC DELETIONS AT 22Q11.2 - VARIABILITY OF THE CLINICAL PICTURE AND DELINEATION OF A COMMONLY DELETED REGION
Authors: LINDSAY EA GREENBERG F SHAFFER LG SHAPIRA SK SCAMBLER PJ BALDINI A
Citation: Ea. Lindsay et al., SUBMICROSCOPIC DELETIONS AT 22Q11.2 - VARIABILITY OF THE CLINICAL PICTURE AND DELINEATION OF A COMMONLY DELETED REGION, American journal of medical genetics, 56(2), 1995, pp. 191-197
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
MAPPING OF THE TUPLE1 GENE TO MOUSE CHROMOSOME 16A-B1
Authors: MATTEI MG HALFORD S SCAMBLER PJ
Citation: Mg. Mattei et al., MAPPING OF THE TUPLE1 GENE TO MOUSE CHROMOSOME 16A-B1, Genomics, 23(3), 1994, pp. 717-718
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