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Results: 1-25 | 26-50 | 51-72
Results: 1-25/72
GENETIC-HETEROGENEITY IN THE STICKLER-SYNDROME
Authors: RICHARDS A MARTIN S YATES JRW POPE FM SNEAD MP
Citation: A. Richards et al., GENETIC-HETEROGENEITY IN THE STICKLER-SYNDROME, European journal of human genetics, 6, 1998, pp. 1123-1123
FUNCTIONAL IMPLICATIONS OF THE SPECTRUM OF MUTATIONS FOUND IN 234 CASES WITH X-LINKED JUVENILE RETINOSCHISIS (XLRS)
Authors: DENDUNNEN JT KRAAYENBRINK T VANSCHOONEVELD M VANDEVOSSE E DEJONG PTVM TENBRINK JB SCHUURMAN E TIJMES N VANOMMEN GJB BERGEN AAB ANDOLFI G MONTINI E LI Y OUDET C BOLZ H KAPLAN J ORTH U GAL A HANAUER A BARDELLI AM AYUSO C DIAZ FJ BITOUN P VENTRUTO V BALLABIO A FRANCO B HIRIYANNA KT BINGHAM EL MCHENRY C PAWAR H COATS C DARGA T RICHARDS JE SIEVING PA HUOPANIEMI L RANTALA A ROSENBERG T DAHL N WRIGHT A DELACHAPELLE A ALITALO T LENZNER S BRUNNER B FEIL S NIESLER B SCHULZ U PINCKERS A BLANKENNAGEL A RUETHER K KELLNER U RAPPOLD G ROPERS HH KALSCHEUER V BERGER W TRUMP D WALPOLE SM NICOLAOU A GAYTHOR SA PIMENIDES D GEORGE NDL MOORE UT YATES JRW
Citation: Jt. Dendunnen et al., FUNCTIONAL IMPLICATIONS OF THE SPECTRUM OF MUTATIONS FOUND IN 234 CASES WITH X-LINKED JUVENILE RETINOSCHISIS (XLRS), Human molecular genetics (Print), 7(7), 1998, pp. 1185-1192
CHARACTERIZATION OF SCML1, A NEW GENE IN XP22, WITH HOMOLOGY TO DEVELOPMENTAL POLYCOMB GENES
Authors: VANDEVOSSE E WALPOLE SM NICOLAOU A VANDERBENT P CAHN A VAUDIN M ROSS MT DURHAM J PAVITT R WILKINSON J GRAFHAM D BERGEN AAB VANOMMEN GJB YATES JRW DENDUNNEN JT TRUMP D
Citation: E. Vandevosse et al., CHARACTERIZATION OF SCML1, A NEW GENE IN XP22, WITH HOMOLOGY TO DEVELOPMENTAL POLYCOMB GENES, Genomics, 49(1), 1998, pp. 96-102
REASSESSMENT OF BIOCHEMICALLY DETERMINED HUNTER-SYNDROME CARRIER STATUS BY DNA TESTING
Authors: TIMMS KM EDWARDS FJ BELMONT JW YATES JRW GIBBS RA
Citation: Km. Timms et al., REASSESSMENT OF BIOCHEMICALLY DETERMINED HUNTER-SYNDROME CARRIER STATUS BY DNA TESTING, Journal of Medical Genetics, 35(8), 1998, pp. 646-649
DUPLICATION OF 8P23.1 - A CYTOGENETIC ANOMALY WITH NO ESTABLISHED CLINICAL-SIGNIFICANCE
Authors: BARBER JCK JOYCE CA COLLINSON MN NICHOLSON JC WILLATT LR DYSON HM BATEMAN MS GREEN AJ YATES JRW DENNIS NR
Citation: Jck. Barber et al., DUPLICATION OF 8P23.1 - A CYTOGENETIC ANOMALY WITH NO ESTABLISHED CLINICAL-SIGNIFICANCE, Journal of Medical Genetics, 35(6), 1998, pp. 491-496
MUTATIONS IN THE TSC1 GENE ACCOUNT FOR A MINORITY OF PATIENTS WITH TUBEROUS SCLEROSIS
Authors: ALI JBM SEPP T WARD S GREEN AJ YATES JRW
Citation: Jbm. Ali et al., MUTATIONS IN THE TSC1 GENE ACCOUNT FOR A MINORITY OF PATIENTS WITH TUBEROUS SCLEROSIS, Journal of Medical Genetics, 35(12), 1998, pp. 969-972
ABERRANT INTRACELLULAR TARGETING AND CELL CYCLE-DEPENDENT PHOSPHORYLATION OF EMERIN CONTRIBUTE TO THE EMERY-DREIFUSS MUSCULAR-DYSTROPHY PHENOTYPE
Authors: ELLIS JA CRAXTON M YATES JRW KENDRICKJONES J
Citation: Ja. Ellis et al., ABERRANT INTRACELLULAR TARGETING AND CELL CYCLE-DEPENDENT PHOSPHORYLATION OF EMERIN CONTRIBUTE TO THE EMERY-DREIFUSS MUSCULAR-DYSTROPHY PHENOTYPE, Journal of Cell Science, 111, 1998, pp. 781-792
A POINT MUTATION IN AN INTRONIC BRANCH SITE RESULTS IN ABERRANT SPLICING OF COL5A1 AND IN EHLERS-DANLOS SYNDROME TYPE-II IN 2 BRITISH FAMILIES
Authors: BURROWS NP NICHOLLS AC RICHARDS AJ LUCCARINI C HARRISON JB YATES JRW POPE FM
Citation: Np. Burrows et al., A POINT MUTATION IN AN INTRONIC BRANCH SITE RESULTS IN ABERRANT SPLICING OF COL5A1 AND IN EHLERS-DANLOS SYNDROME TYPE-II IN 2 BRITISH FAMILIES, American journal of human genetics, 63(2), 1998, pp. 390-398
9 NOVEL L1 CAM MUTATIONS IN FAMILIES WITH X-LINKED HYDROCEPHALUS
Authors: MACFARLANE JR DU JS PEPYS ME RAMSDEN S DONNAI D CHARLTON R GARRETT C TOLMIE J YATES JRW BERRY C GOUDIE D MONCLA A LUNT P HODGSON S JOUET M KENWRICK S
Citation: Jr. Macfarlane et al., 9 NOVEL L1 CAM MUTATIONS IN FAMILIES WITH X-LINKED HYDROCEPHALUS, Human mutation, 9(6), 1997, pp. 512-518
PROTEIN STUDIES IN X-LINKED EMERY-DREIFUSS MUSCULAR-DYSTROPHY
Authors: ELLIS JA YATES JRW KENDRICKJONES J CHAN KK ANDERSON JR
Citation: Ja. Ellis et al., PROTEIN STUDIES IN X-LINKED EMERY-DREIFUSS MUSCULAR-DYSTROPHY, Brain pathology, 7(4), 1997, pp. 1220-1220
MUTATIONS IN THE TSC2 GENE - ANALYSIS OF THE COMPLETE CODING SEQUENCEUSING THE PROTEIN TRUNCATION TEST (PTT)
Authors: VANBAKEL I SEPP T WARD S YATES JRW GREEN AJ
Citation: I. Vanbakel et al., MUTATIONS IN THE TSC2 GENE - ANALYSIS OF THE COMPLETE CODING SEQUENCEUSING THE PROTEIN TRUNCATION TEST (PTT), Human molecular genetics, 6(9), 1997, pp. 1409-1414
FEMALE GERMLINE MOSAICISM IN TUBEROUS SCLEROSIS CONFIRMED BY MOLECULAR-GENETIC ANALYSIS
Authors: YATES JRW VANBAKEL I SEPP T PAYNE SJ WEBB DW NEVIN NC GREEN AJ
Citation: Jrw. Yates et al., FEMALE GERMLINE MOSAICISM IN TUBEROUS SCLEROSIS CONFIRMED BY MOLECULAR-GENETIC ANALYSIS, Human molecular genetics, 6(13), 1997, pp. 2265-2269
43RD ENMC INTERNATIONAL WORKSHOP ON EMERY-DREIFUSS MUSCULAR-DYSTROPHY, 22 JUNE 1996, NAARDEN, THE NETHERLANDS
Authors: YATES JRW
Citation: Jrw. Yates, 43RD ENMC INTERNATIONAL WORKSHOP ON EMERY-DREIFUSS MUSCULAR-DYSTROPHY, 22 JUNE 1996, NAARDEN, THE NETHERLANDS, Neuromuscular disorders, 7(1), 1997, pp. 67-69
AN ECORV POLYMORPHISM IN EXON-40 OF THE TUBEROUS SCLEROSIS-2 (TSC2) GENE
Authors: VANBAKEL I SEPP T YATES JRW GREEN AJ
Citation: I. Vanbakel et al., AN ECORV POLYMORPHISM IN EXON-40 OF THE TUBEROUS SCLEROSIS-2 (TSC2) GENE, Molecular and cellular probes, 11(1), 1997, pp. 75-76
HIGH-RESOLUTION PHYSICAL MAP OF THE X-LINKED RETINOSCHISIS INTERVAL IN XP22
Authors: WALPOLE SM NICOLAOU A HOWELL GR WHITTAKER A BENTLEY DR ROSS MT YATES JRW TRUMP D
Citation: Sm. Walpole et al., HIGH-RESOLUTION PHYSICAL MAP OF THE X-LINKED RETINOSCHISIS INTERVAL IN XP22, Genomics, 44(3), 1997, pp. 300-308
IDENTIFICATION OF THE TUBEROUS SCLEROSIS GENE TSC1 ON CHROMOSOME 9Q34
Authors: VANSLEGTENHORST M DEHOOGT R HERMANS C NELLIST M JANSSEN B VERHOEF S LINDHOUT D VANDENOUWELAND A HALLEY D YOUNG J BURLEY M JEREMIAH S WOODWARD K NAHMIAS J FOX M EKONG R OSBORNE J WOLFE J POVEY S SNELL RG CHEADLE JP JONES AC TACHATAKI M RAVINE D SAMPSON JR REEVE MP RICHARDSON P WILMER F MUNRO C HAWKINS TL SEPP T ALI JBM WARD S GREEN AJ YATES JRW KWIATKOWSKA J HENSKE EP SHORT MP HAINES JH JOZWIAK S KWIATKOWSKI DJ
Citation: M. Vanslegtenhorst et al., IDENTIFICATION OF THE TUBEROUS SCLEROSIS GENE TSC1 ON CHROMOSOME 9Q34, Science, 277(5327), 1997, pp. 805-808
INSTABILITY OF NORMAL (CTG)(N) ALLELES IN THE DM KINASE GENE
Authors: DOW DJ RUBINSZTEIN DC YATES JRW BARTON DE FERGUSONSMITH MA
Citation: Dj. Dow et al., INSTABILITY OF NORMAL (CTG)(N) ALLELES IN THE DM KINASE GENE, Journal of Medical Genetics, 34(10), 1997, pp. 871-873
A CANDIDATE GENE FOR X-LINKED RETINOSCHISIS IN XP22
Authors: TRUMP D WALPOLE SM VANDEVOSSE E NICOLAOU A CAHN A VAUDIN M ROSS MT DENDUNNEN JT YATES JRW
Citation: D. Trump et al., A CANDIDATE GENE FOR X-LINKED RETINOSCHISIS IN XP22, Journal of Medical Genetics, 34, 1997, pp. 18-18
MOLECULAR DIAGNOSIS IN TUBEROUS SCLEROSIS
Authors: GREEN A SEPP T WARD S ALI JBM BAGSHAW J WHITAKER J YATES JRW
Citation: A. Green et al., MOLECULAR DIAGNOSIS IN TUBEROUS SCLEROSIS, Journal of Medical Genetics, 34, 1997, pp. 71-71
PROGRESS TOWARDS A TRANSCRIPTION MAP OF THE X-LINKED RETINOSCHISIS REGION IN XP22
Authors: WALPOLE S CAHN A NICOLAOU A HUCKLE E HOWELL G WHITTAKER A VAUDIN M ROSS MT YATES JRW TRUMP D
Citation: S. Walpole et al., PROGRESS TOWARDS A TRANSCRIPTION MAP OF THE X-LINKED RETINOSCHISIS REGION IN XP22, Journal of Medical Genetics, 34, 1997, pp. 1102-1102
DETECTION OF DELETIONS OF THE STEROID SULFATASE GENE BY MULTIPLEX DNAAMPLIFICATION
Authors: GELSON W MCMAHON R WHITTAKER J YATES JRW
Citation: W. Gelson et al., DETECTION OF DELETIONS OF THE STEROID SULFATASE GENE BY MULTIPLEX DNAAMPLIFICATION, Journal of Medical Genetics, 34, 1997, pp. 1314-1314
EMERY-DREIFUSS MUSCULAR-DYSTROPHY - THE SPECTRUM OF EMERIN MUTATIONS IN X-LINKED FAMILIES
Authors: BAGSHAW J AKSMANOVIC VMA COOMBER E MCMAHON R ELLIS JA KENDRICKJONES J WHITTAKER JL YATES JRW
Citation: J. Bagshaw et al., EMERY-DREIFUSS MUSCULAR-DYSTROPHY - THE SPECTRUM OF EMERIN MUTATIONS IN X-LINKED FAMILIES, Journal of Medical Genetics, 34, 1997, pp. 1424-1424
IDENTIFICATION OF THE TUBEROUS SCLEROSIS GENE (TSC1) ON CHROMOSOME 9Q34
Authors: KWIATKOWSKI DJ HENSKE EP KWIATKOWSKA J YOUNG J BURLEY M JEREMIAH S WOODWARD K NAHMIAS J FOX M EKONG R WOLFE J POVEY S OSBORNE J SNELL RG CHEADLE JP JONES AC TACHATAKI M RAVINE D SAMPSON JR REEVE MP RICHARDSON P WILMER F MUNRO C HAWKINS TL SEPP T ALI JBM WARD S GREEN AJ YATES JRW SHORT MP HAINES JH JOZWIAK S VANSLEGTENHORST M DEHOOGT R HERMANS C NELLIST M JANSSEN B VERHOEF S LINDHOUT D VANDENOUWELAND A HALLEY D
Citation: Dj. Kwiatkowski et al., IDENTIFICATION OF THE TUBEROUS SCLEROSIS GENE (TSC1) ON CHROMOSOME 9Q34, American journal of human genetics, 61(4), 1997, pp. 7-7
IDENTIFICATION OF A CANDIDATE GENE FOR X-LINKED RETINOSCHISIS IN XP22
Authors: TRUMP D WALPOLE SM VANDEVOSSE E NICOLAOU A CAHN A VAUDIN M ROSS MT DENDUNNEN JT YATES JRW
Citation: D. Trump et al., IDENTIFICATION OF A CANDIDATE GENE FOR X-LINKED RETINOSCHISIS IN XP22, American journal of human genetics, 61(4), 1997, pp. 1427-1427
AN INTEGRATED PHYSICAL AND TRANSCRIPTIONAL MAP OF THE RETINOSCHISIS REGION IN XP22
Authors: WALPOLE SM CAHN A NICOLAOU A HUCKLE E HOWELL G WHITTAKER A VAUDIN M ROSS MT YATES JRW TRUMP D
Citation: Sm. Walpole et al., AN INTEGRATED PHYSICAL AND TRANSCRIPTIONAL MAP OF THE RETINOSCHISIS REGION IN XP22, American journal of human genetics, 61(4), 1997, pp. 1431-1431
Risultati: 1-25 | 26-50 | 51-72