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Results: 1-23 |
Results: 23
HOLT-ORAM-SYNDROME AND CARDIAC DEVELOPMENT
Authors: BROOK JD YI CH",ARMSTRONGBUISSERET,"PACKHAM E GHOSH T CHING C CROSS S NEWBURYECOB R
Citation: Jd. Brook et al., HOLT-ORAM-SYNDROME AND CARDIAC DEVELOPMENT, European journal of human genetics, 6, 1998, pp. 13-13
6 TRANSCRIPTS MAP WITHIN 200 KILOBASES OF THE MYOTONIC-DYSTROPHY EXPANDED REPEAT
Authors: ALWAZZAN M HAMSHERE MG LENNON GG BROOK JD
Citation: M. Alwazzan et al., 6 TRANSCRIPTS MAP WITHIN 200 KILOBASES OF THE MYOTONIC-DYSTROPHY EXPANDED REPEAT, Mammalian genome, 9(6), 1998, pp. 485-487
HOLT-ORAM SYNDROME IS CAUSED BY MUTATIONS IN TBX5, A MEMBER OF THE BRACHYURY (T) GENE FAMILY
Authors: LI QY NEWBURYECOB RA TERRETT JA WILSON DI CURTIS ARJ YI CH GEBUHR T BULLEN PJ ROBSON SC STRACHAN T BONNET D LYONNET S YOUNG ID RAEBURN JA BUCKLER AJ LAW DJ BROOK JD
Citation: Qy. Li et al., HOLT-ORAM SYNDROME IS CAUSED BY MUTATIONS IN TBX5, A MEMBER OF THE BRACHYURY (T) GENE FAMILY, Nature genetics, 15(1), 1997, pp. 21-29
TRANSCRIPTIONAL ABNORMALITY IN MYOTONIC-DYSTROPHY AFFECTS DMPK BUT NOT NEIGHBORING GENES
Authors: HAMSHERE MG NEWMAN EE ALWAZZAN M ATHWAL BS BROOK JD
Citation: Mg. Hamshere et al., TRANSCRIPTIONAL ABNORMALITY IN MYOTONIC-DYSTROPHY AFFECTS DMPK BUT NOT NEIGHBORING GENES, Proceedings of the National Academy of Sciences of the United Statesof America, 94(14), 1997, pp. 7394-7399
HIGH-LEVELS OF ALLELE LOSS AT THE FHIT AND ATM GENES IN NON-COMEDO DUCTAL CARCINOMA IN-SITU AND GRADE-1 TUBULAR INVASIVE BREAST
Authors: MAN SM ELLIS IO SIBBERING M BLAMEY RW BROOK JD
Citation: Sm. Man et al., HIGH-LEVELS OF ALLELE LOSS AT THE FHIT AND ATM GENES IN NON-COMEDO DUCTAL CARCINOMA IN-SITU AND GRADE-1 TUBULAR INVASIVE BREAST, Journal of pathology, 182, 1997, pp. 1-1
TBX5 MUTATIONS IN PATIENTS WITH HOLT-ORAM-SYNDROME - CLINICAL ASPECTS
Authors: NEWBURYECOB RA LI QY RAEBURN JA YOUNG ID BROOK JD
Citation: Ra. Newburyecob et al., TBX5 MUTATIONS IN PATIENTS WITH HOLT-ORAM-SYNDROME - CLINICAL ASPECTS, American journal of human genetics, 61(4), 1997, pp. 608-608
TBX5 MUTATIONS IN HOLT-ORAM-SYNDROME
Authors: BROOK JD LI QY YI CH ARMSTRONGBUISSERET L YOUNG ID NEWBURYECOB RA
Citation: Jd. Brook et al., TBX5 MUTATIONS IN HOLT-ORAM-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 844-844
ANALYSIS OF THE EXPRESSION OF GENES SURROUNDING THE MYOTONIC-DYSTROPHY EXPANDED REPEAT
Authors: ALWAZZAN MA NEWMAN EE HAMSHERE MG BROOK JD
Citation: Ma. Alwazzan et al., ANALYSIS OF THE EXPRESSION OF GENES SURROUNDING THE MYOTONIC-DYSTROPHY EXPANDED REPEAT, American journal of human genetics, 61(4), 1997, pp. 1769-1769
ANALYSIS OF PILOMATRIXOMAS IN MYOTONIC-DYSTROPHY
Authors: NEWMAN EE HAMSHERE MG ALWAZZAN MA BROOK JD
Citation: Ee. Newman et al., ANALYSIS OF PILOMATRIXOMAS IN MYOTONIC-DYSTROPHY, American journal of human genetics, 61(4), 1997, pp. 1846-1846
A HIGH-RESOLUTION WHOLE GENOME RADIATION HYBRID MAP OF HUMAN-CHROMOSOME 17Q22-Q25.3 ACROSS THE GENES FOR GH AND TK
Authors: FOSTER JW SCHAFER AJ CRITCHER R SPILLETT DJ FEAKES RW WALTER MA DOMINGUEZSTEGLICH M GUIOLI S BROOK JD GOODFELLOW PN
Citation: Jw. Foster et al., A HIGH-RESOLUTION WHOLE GENOME RADIATION HYBRID MAP OF HUMAN-CHROMOSOME 17Q22-Q25.3 ACROSS THE GENES FOR GH AND TK, Genomics, 33(2), 1996, pp. 185-192
THE IDENTIFICATION OF EXONS FROM THE MED PSACH REGION OF HUMAN-CHROMOSOME-19/
Authors: LI QY LENNON GG BROOK JD
Citation: Qy. Li et al., THE IDENTIFICATION OF EXONS FROM THE MED PSACH REGION OF HUMAN-CHROMOSOME-19/, Genomics, 32(2), 1996, pp. 218-224
MYOTONIC-DYSTROPHY, KNOCKOUTS, WARTS AND ALL
Authors: HAMSHERE MG BROOK JD
Citation: Mg. Hamshere et Jd. Brook, MYOTONIC-DYSTROPHY, KNOCKOUTS, WARTS AND ALL, Trends in genetics, 12(9), 1996, pp. 332-334
HIGH-LEVELS OF ALLELE LOSS AT THE FHIT AND ATM GENES IN NON-COMEDO DUCTAL CARCINOMA IN-SITU AND GRADE-I TUBULAR INVASIVE BREAST CANCERS
Authors: MAU S ELLIS IO SIBBERING M BLAMEY RW BROOK JD
Citation: S. Mau et al., HIGH-LEVELS OF ALLELE LOSS AT THE FHIT AND ATM GENES IN NON-COMEDO DUCTAL CARCINOMA IN-SITU AND GRADE-I TUBULAR INVASIVE BREAST CANCERS, Cancer research, 56(23), 1996, pp. 5484-5489
A TRANSLOCATION AT 12Q2 REFINES THE INTERVAL CONTAINING THE HOLT-ORAMSYNDROME-1 GENE
Authors: TERRETT JA NEWBURYECOB R SMITH NM LI QY GARRETT C COX P BONNET D LYONNET S MUNNICH A BUCKLER AJ BROOK JD
Citation: Ja. Terrett et al., A TRANSLOCATION AT 12Q2 REFINES THE INTERVAL CONTAINING THE HOLT-ORAMSYNDROME-1 GENE, American journal of human genetics, 59(6), 1996, pp. 1337-1341
THE ROLE OF SOX9 IN AUTOSOMAL SEX REVERSAL AND CAMPOMELIC DYSPLASIA
Authors: SCHAFER AJ DOMINGUEZSTEGLICH MA GUIOLI S KWOK C WELLER PA STEVANOVIC M WEISSENBACH J MANSOUR S YOUNG ID GOODFELLOW PN BROOK JD FOSTER JW
Citation: Aj. Schafer et al., THE ROLE OF SOX9 IN AUTOSOMAL SEX REVERSAL AND CAMPOMELIC DYSPLASIA, Philosophical transactions-Royal Society of London. Biological sciences, 350(1333), 1995, pp. 271-277
MUTATIONS IN SOX9, THE GENE RESPONSIBLE FOR CAMPOMELIC DYSPLASIA AND AUTOSOMAL SEX REVERSAL
Authors: KWOK C WELLER PA GUIOLI S FOSTER JW MANSOUR S ZUFFARDI O PUNNETT HH DOMINGUEZSTEGLICH MA BROOK JD YOUNG ID GOODFELLOW PN SCHAFER AJ
Citation: C. Kwok et al., MUTATIONS IN SOX9, THE GENE RESPONSIBLE FOR CAMPOMELIC DYSPLASIA AND AUTOSOMAL SEX REVERSAL, American journal of human genetics, 57(5), 1995, pp. 1028-1036
THE HOLT-ORAM SYNDROME - EVIDENCE FOR GENETIC-HETEROGENEITY
Authors: NEWBURYECOB RA TERRETT JA LEANAGE R BROOK JD YOUNG ID RAEBURN JA
Citation: Ra. Newburyecob et al., THE HOLT-ORAM SYNDROME - EVIDENCE FOR GENETIC-HETEROGENEITY, American journal of human genetics, 57(4), 1995, pp. 540-540
ISOLATION OF GENES FROM THE EDM1 PSACH REGION OF HUMAN-CHROMOSOME 19P12-19P13.1 USING EXON AMPLIFICATION/
Authors: LI QY LENNON G BROOK JD
Citation: Qy. Li et al., ISOLATION OF GENES FROM THE EDM1 PSACH REGION OF HUMAN-CHROMOSOME 19P12-19P13.1 USING EXON AMPLIFICATION/, American journal of human genetics, 57(4), 1995, pp. 1525-1525
HOLT-GRAM SYNDROME IS A GENETICALLY HETEROGENEOUS DISEASE WITH ONE LOCUS MAPPING TO HUMAN-CHROMOSOME 12Q
Authors: TERRETT JA NEWBURYECOB R CROSS GS FENTON I RAEBURN JA YOUNG ID BROOK JD
Citation: Ja. Terrett et al., HOLT-GRAM SYNDROME IS A GENETICALLY HETEROGENEOUS DISEASE WITH ONE LOCUS MAPPING TO HUMAN-CHROMOSOME 12Q, Nature genetics, 6(4), 1994, pp. 401-404
CAMPOMELIC DYSPLASIA AND AUTOSOMAL SEX REVERSAL CAUSED BY MUTATIONS IN AN SRY-RELATED GENE
Authors: FOSTER JW DOMINGUEZSTEGLICH MA GUIOLI S KWOK C WELLER PA STEVANOVIC M WEISSENBACH J MANSOUR S YOUNG ID GOODFELLOW PN BROOK JD SCHAFER AJ
Citation: Jw. Foster et al., CAMPOMELIC DYSPLASIA AND AUTOSOMAL SEX REVERSAL CAUSED BY MUTATIONS IN AN SRY-RELATED GENE, Nature, 372(6506), 1994, pp. 525-530
GENOMIC ORGANIZATION AND TRANSCRIPTIONAL UNITS AT THE MYOTONIC-DYSTROPHY LOCUS
Authors: SHAW DJ MCCURRACH M RUNDLE SA HARLEY HG CROW SR SOHN R THIRION JP HAMSHERE MG BUCKLER AJ HARPER PS HOUSMAN DE BROOK JD
Citation: Dj. Shaw et al., GENOMIC ORGANIZATION AND TRANSCRIPTIONAL UNITS AT THE MYOTONIC-DYSTROPHY LOCUS, Genomics, 18(3), 1993, pp. 673-679
THE DM MUTATION - DIAGNOSTIC APPLICATIONS IN THE FINNISH POPULATION
Authors: NOKELAINEN P SHELBOURNE P SHAW D BROOK JD HARLEY HG JOHNSON K SOMER H SAVONTAUS ML PELTONEN L
Citation: P. Nokelainen et al., THE DM MUTATION - DIAGNOSTIC APPLICATIONS IN THE FINNISH POPULATION, Clinical genetics, 43(4), 1993, pp. 190-195
SIZE OF THE UNSTABLE CTG REPEAT SEQUENCE IN RELATION TO PHENOTYPE ANDPARENTAL TRANSMISSION IN MYOTONIC-DYSTROPHY
Authors: HARLEY HG RUNDLE SA MACMILLAN JC MYRING J BROOK JD CROW S REARDON W FENTON I SHAW DJ HARPER PS
Citation: Hg. Harley et al., SIZE OF THE UNSTABLE CTG REPEAT SEQUENCE IN RELATION TO PHENOTYPE ANDPARENTAL TRANSMISSION IN MYOTONIC-DYSTROPHY, American journal of human genetics, 52(6), 1993, pp. 1164-1174
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