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Results: 1-15 |
Results: 15
A SINGLE-BASE MUTATION IN COL5A2 CAUSES EHLERS-DANLOS-SYNDROME TYPE-II
Authors: RICHARDS AJ MARTIN S NICHOLLS AC HARRISON JB POPE FM BURROWS NP
Citation: Aj. Richards et al., A SINGLE-BASE MUTATION IN COL5A2 CAUSES EHLERS-DANLOS-SYNDROME TYPE-II, Journal of Medical Genetics, 35(10), 1998, pp. 846-848
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
PARENTAL MOSAICISM AND AUTOSOMAL-DOMINANT MUTATIONS CAUSING STRUCTURAL ABNORMALITIES OF COLLAGEN-I ARE FREQUENT IN FAMILIES WITH OSTEOGENESIS-IMPERFECTA TYPE-III IV/
Authors: LUND AM NICHOLLS AC SCHWARTZ M SKOVBY F
Citation: Am. Lund et al., PARENTAL MOSAICISM AND AUTOSOMAL-DOMINANT MUTATIONS CAUSING STRUCTURAL ABNORMALITIES OF COLLAGEN-I ARE FREQUENT IN FAMILIES WITH OSTEOGENESIS-IMPERFECTA TYPE-III IV/, Acta paediatrica, 86(7), 1997, pp. 711-718
GENETIC-LINKAGE TO THE COLLAGEN ALPHA-1(V) GENE (COL5A1) IN 2 BRITISHEHLERS-DANLOS-SYNDROME FAMILIES WITH VARIABLE TYPE-I AND TYPE-II PHENOTYPES
Authors: BURROWS NP NICHOLLS AC YATES JR RICHARDS AJ POPE FM
Citation: Np. Burrows et al., GENETIC-LINKAGE TO THE COLLAGEN ALPHA-1(V) GENE (COL5A1) IN 2 BRITISHEHLERS-DANLOS-SYNDROME FAMILIES WITH VARIABLE TYPE-I AND TYPE-II PHENOTYPES, Clinical and experimental dermatology, 22(4), 1997, pp. 174-176
ABERRANT SPLICING DUE TO AN INTRONIC POINT MUTATION IN A LARIAT BRANCHPOINT SEQUENCE IN COL5A1 CAUSES EHLERS-DANLOS-SYNDROME TYPE-II IN 2 BRITISH FAMILIES
Authors: BURROWS NP NICHOLLS AC RICHARDS AJ LUCCARINI C YATES JRW POPE FM
Citation: Np. Burrows et al., ABERRANT SPLICING DUE TO AN INTRONIC POINT MUTATION IN A LARIAT BRANCHPOINT SEQUENCE IN COL5A1 CAUSES EHLERS-DANLOS-SYNDROME TYPE-II IN 2 BRITISH FAMILIES, American journal of human genetics, 61(4), 1997, pp. 1916-1916
INVOLVEMENT OF ABNORMAL TYPE-V COLLAGEN IN A FAMILY WITH RECURRENT OSTEOGENESIS IMPERFECTA
Authors: AUSEMS MGEM PALS G BEEMER FA NICHOLLS AC
Citation: Mgem. Ausems et al., INVOLVEMENT OF ABNORMAL TYPE-V COLLAGEN IN A FAMILY WITH RECURRENT OSTEOGENESIS IMPERFECTA, American journal of human genetics, 61(4), 1997, pp. 2388-2388
MUTATION IN THE CARBOXY-TERMINAL PROPEPTIDE OF THE PRO-ALPHA-1(1) CHAIN OF TYPE-I COLLAGEN IN A CHILD WITH SEVERE OSTEOGENESIS IMPERFECTA (OI TYPE-III) - POSSIBLE IMPLICATIONS FOR PROTEIN-FOLDING
Authors: OLIVER JE THOMPSON EM POPE FM NICHOLLS AC
Citation: Je. Oliver et al., MUTATION IN THE CARBOXY-TERMINAL PROPEPTIDE OF THE PRO-ALPHA-1(1) CHAIN OF TYPE-I COLLAGEN IN A CHILD WITH SEVERE OSTEOGENESIS IMPERFECTA (OI TYPE-III) - POSSIBLE IMPLICATIONS FOR PROTEIN-FOLDING, Human mutation, 7(4), 1996, pp. 318-326
SPLICE-SITE MUTATION CAUSING DELETION OF EXON-21 SEQUENCES FROM THE PRO-ALPHA-2(I) CHAIN OF TYPE-I COLLAGEN IN A PATIENT WITH SEVERE DENTINOGENESIS IMPERFECTA BUT VERY MILD OSTEOGENESIS IMPERFECTA
Authors: NICHOLLS AC OLIVER J MCCARRON S WINTER GB POPE FM
Citation: Ac. Nicholls et al., SPLICE-SITE MUTATION CAUSING DELETION OF EXON-21 SEQUENCES FROM THE PRO-ALPHA-2(I) CHAIN OF TYPE-I COLLAGEN IN A PATIENT WITH SEVERE DENTINOGENESIS IMPERFECTA BUT VERY MILD OSTEOGENESIS IMPERFECTA, Human mutation, 7(3), 1996, pp. 219-227
AN EXON SKIPPING MUTATION OF A TYPE-V COLLAGEN GENE (COL5A1) IN EHLERS-DANLOS SYNDROME
Authors: NICHOLLS AC OLIVER JE MCCARRON S HARRISON JB GREENSPAN DS POPE FM
Citation: Ac. Nicholls et al., AN EXON SKIPPING MUTATION OF A TYPE-V COLLAGEN GENE (COL5A1) IN EHLERS-DANLOS SYNDROME, Journal of Medical Genetics, 33(11), 1996, pp. 940-946
THE GENE ENCODING COLLAGEN ALPHA-1(V) (COL5A1) IS LINKED TO MIXED EHLERS-DANLOS SYNDROME TYPE I II/
Authors: BURROWS NP NICHOLLS AC YATES JRW GATWARD G SARATHACHANDRA P RICHARDS A POPE FM
Citation: Np. Burrows et al., THE GENE ENCODING COLLAGEN ALPHA-1(V) (COL5A1) IS LINKED TO MIXED EHLERS-DANLOS SYNDROME TYPE I II/, Journal of investigative dermatology, 106(6), 1996, pp. 1273-1276
COL3A1 MUTATIONS CAUSE VARIABLE CLINICAL PHENOTYPES INCLUDING ACROGERIA AND VASCULAR RUPTURE
Authors: POPE FM NARCISI P NICHOLLS AC GERMAINE D RICHARDS AJ
Citation: Fm. Pope et al., COL3A1 MUTATIONS CAUSE VARIABLE CLINICAL PHENOTYPES INCLUDING ACROGERIA AND VASCULAR RUPTURE, British journal of dermatology, 135(2), 1996, pp. 163-181
VARIOUS COLLAGEN MUTATIONS PRODUCE WIDELY VARYING CLINICAL PHENOTYPE
Authors: POPE FM NICHOLLS AC NARCISI P RICHARDS AJ
Citation: Fm. Pope et al., VARIOUS COLLAGEN MUTATIONS PRODUCE WIDELY VARYING CLINICAL PHENOTYPE, Journal of Medical Genetics, 32(2), 1995, pp. 135-135
A COL3A1 MUTATION PRESENTING WITH PERFORATING ELASTOMA OF MIESCHER
Authors: BURROWS NP RICHARDS AJ NARCISI P NICHOLLS AC SHAMY HK MCGIBBON DH POPE FM
Citation: Np. Burrows et al., A COL3A1 MUTATION PRESENTING WITH PERFORATING ELASTOMA OF MIESCHER, Journal of investigative dermatology, 105(3), 1995, pp. 512-512
A MUTATION OF THE COL3A1 GENE PRESENTING WITH MIESCHERS ELASTOMA
Authors: BURROWS NP RICHARDS AJ NARCISI P NICHOLLS AC SHAMY HK MCGIBBON D POPE FM
Citation: Np. Burrows et al., A MUTATION OF THE COL3A1 GENE PRESENTING WITH MIESCHERS ELASTOMA, American journal of human genetics, 57(4), 1995, pp. 1948-1948
THE MOLECULAR DEFECT IN A FAMILY WITH MILD ATYPICAL OSTEOGENESIS IMPERFECTA AND EXTREME JOINT HYPERMOBILITY - EXON SKIPPING CAUSED BY AN 11-BP DELETION FROM AN INTRON IN ONE COL1A2 ALLELE
Authors: NICHOLLS AC OLIVER J RENOUF DV HEATH DA POPE FM
Citation: Ac. Nicholls et al., THE MOLECULAR DEFECT IN A FAMILY WITH MILD ATYPICAL OSTEOGENESIS IMPERFECTA AND EXTREME JOINT HYPERMOBILITY - EXON SKIPPING CAUSED BY AN 11-BP DELETION FROM AN INTRON IN ONE COL1A2 ALLELE, Human genetics, 88(6), 1992, pp. 627-633
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