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Results: 1-25 | 26-50 | 51-51
Results: 1-25/51
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
GIANT BLADDER DIVERTICULUM IN EHLERS-DANLOS-SYNDROME TYPE-I CAUSING OUTFLOW OBSTRUCTION
Authors: BURROWS NP MONK BE HARRISON JB POPE FM
Citation: Np. Burrows et al., GIANT BLADDER DIVERTICULUM IN EHLERS-DANLOS-SYNDROME TYPE-I CAUSING OUTFLOW OBSTRUCTION, Clinical and experimental dermatology, 23(3), 1998, pp. 109-112
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
SPONTANEOUS RUPTURE OF THE RENAL-ARTERY IN A PATIENT WITH EHLERS-DANLOS SYNDROME TYPE-IV
Authors: OYEN O CLAUSEN OP BREKKE IB BAKKA A POPE FM
Citation: O. Oyen et al., SPONTANEOUS RUPTURE OF THE RENAL-ARTERY IN A PATIENT WITH EHLERS-DANLOS SYNDROME TYPE-IV, European journal of vascular and endovascular surgery, 13(5), 1997, pp. 509-512
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
EHLERS-DANLOS-SYNDROME HAS VARIED MOLECULAR MECHANISMS
Authors: POPE FM BURROWS NP
Citation: Fm. Pope et Np. Burrows, EHLERS-DANLOS-SYNDROME HAS VARIED MOLECULAR MECHANISMS, Journal of Medical Genetics, 34(5), 1997, pp. 400-410
THE STRUCTURAL ORGANIZATION OF LAMA4, THE GENE ENCODING LAMININ ALPHA-4
Authors: RICHARDS A LUCCARINI C POPE FM
Citation: A. Richards et al., THE STRUCTURAL ORGANIZATION OF LAMA4, THE GENE ENCODING LAMININ ALPHA-4, European journal of biochemistry, 248(1), 1997, pp. 15-23
CONGENITAL CUTIS LAXA AND LYSYL OXIDASE DEFICIENCY
Authors: KHAKOO A THOMAS R TROMPETER R DUFFY P PRICE R POPE FM
Citation: A. Khakoo et al., CONGENITAL CUTIS LAXA AND LYSYL OXIDASE DEFICIENCY, Clinical genetics, 51(2), 1997, pp. 109-114
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
COL7A1 GLYCINE SUBSTITUTION MUTATION AND IMPLICATIONS FOR DOMINANT ORRECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA (DEB) GENOTYPES AND PHENOTYPES
Authors: POPE FM CANTLAY A RICHARDS AJ EADY RAJ MCGRATH JA
Citation: Fm. Pope et al., COL7A1 GLYCINE SUBSTITUTION MUTATION AND IMPLICATIONS FOR DOMINANT ORRECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA (DEB) GENOTYPES AND PHENOTYPES, American journal of human genetics, 61(4), 1997, pp. 2014-2014
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
A FAMILY WITH STICKLER SYNDROME TYPE-2 HAS A MUTATION IN THE COL11A1 GENE RESULTING IN THE SUBSTITUTION OF GLYCINE-97 BY VALINE IN ALPHA-1(XI) COLLAGEN
Authors: RICHARDS AJ YATES JRW WILLIAMS R PAYNE SJ POPE FM SCOTT JD SNEAD MP
Citation: Aj. Richards et al., A FAMILY WITH STICKLER SYNDROME TYPE-2 HAS A MUTATION IN THE COL11A1 GENE RESULTING IN THE SUBSTITUTION OF GLYCINE-97 BY VALINE IN ALPHA-1(XI) COLLAGEN, Human molecular genetics, 5(9), 1996, pp. 1339-1343
MASKED CONFIRMATION OF LINKAGE BETWEEN TYPE-1 CONGENITAL VITREOUS ANOMALY AND COL 2A1 IN STICKLER SYNDROME
Authors: SNEAD MP YATES JRW POPE FM TEMPLE IK SCOTT JD
Citation: Mp. Snead et al., MASKED CONFIRMATION OF LINKAGE BETWEEN TYPE-1 CONGENITAL VITREOUS ANOMALY AND COL 2A1 IN STICKLER SYNDROME, Graefe's archive for clinical and experimental ophthalmology, 234(11), 1996, pp. 720-721
CUTIS LAXA COMPLICATING EHLERS-DANLOS SYNDROME TYPE-II
Authors: OSTLERE LS POPE FM HOLDEN CA
Citation: Ls. Ostlere et al., CUTIS LAXA COMPLICATING EHLERS-DANLOS SYNDROME TYPE-II, Clinical and experimental dermatology, 21(2), 1996, pp. 135-137
AN ULTRASTRUCTURAL AND IMMUNOGOLD LOCALIZATION STUDY OF PROTEOGLYCANSASSOCIATED WITH THE OSTEOCYTES OF FETAL BONE IN OSTEOGENESIS IMPERFECTA
Authors: SARATHCHANDRA P POPE FM ALI SY
Citation: P. Sarathchandra et al., AN ULTRASTRUCTURAL AND IMMUNOGOLD LOCALIZATION STUDY OF PROTEOGLYCANSASSOCIATED WITH THE OSTEOCYTES OF FETAL BONE IN OSTEOGENESIS IMPERFECTA, Calcified tissue international, 58(6), 1996, pp. 435-442
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
IDENTICAL DELETION OF EXON-87 OF THE COL7A1 GENE IN 3 BRITISH DDEB FAMILIES ARE ACCOMPANIED BY ABNORMAL ANCHORING FIBRIL MORPHOLOGY - A COMMON FOUNDER EFFECT
Authors: CANTLAY A DUNNILL MG RICHARDS A WOJORONOWSKA F EADY R POPE FM
Citation: A. Cantlay et al., IDENTICAL DELETION OF EXON-87 OF THE COL7A1 GENE IN 3 BRITISH DDEB FAMILIES ARE ACCOMPANIED BY ABNORMAL ANCHORING FIBRIL MORPHOLOGY - A COMMON FOUNDER EFFECT, Journal of investigative dermatology, 107(3), 1996, pp. 190-190
CLINICOPATHOLOGICAL CORRELATIONS OF COMPOUND HETEROZYGOUS COL7A1 MUTATIONS RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
Authors: DUNNILL MGS MCGRATH JA RICHARDS AJ CHRISTIANO AM UITTO J POPE FM EADY RAJ
Citation: Mgs. Dunnill et al., CLINICOPATHOLOGICAL CORRELATIONS OF COMPOUND HETEROZYGOUS COL7A1 MUTATIONS RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 107(2), 1996, pp. 171-177
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
THE COMPLETE CDNA SEQUENCE OF LAMININ ALPHA-4 AND ITS RELATIONSHIP TOTHE OTHER HUMAN LAMININ ALPHA-CHAINS
Authors: RICHARDS A ALIMARA L POPE FM
Citation: A. Richards et al., THE COMPLETE CDNA SEQUENCE OF LAMININ ALPHA-4 AND ITS RELATIONSHIP TOTHE OTHER HUMAN LAMININ ALPHA-CHAINS, European journal of biochemistry, 238(3), 1996, pp. 813-821
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
FIRST TRIMESTER DNA-BASED EXCLUSION OF RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA FROM CHORIONIC VILLUS SAMPLING
Authors: MCGRATH JA DUNNILL MGS CHRISTIANO AM LAKE BD ATHERTON DJ RODECK CH POPE FM EADY RAJ UITTO J
Citation: Ja. Mcgrath et al., FIRST TRIMESTER DNA-BASED EXCLUSION OF RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA FROM CHORIONIC VILLUS SAMPLING, British journal of dermatology, 134(4), 1996, pp. 734-739
EFFICIENT STRATEGY FOR THE DETECTION OF MUTATIONS IN ACROGERIC EHLERS-DANLOS SYNDROME TYPE-IV
Authors: JOHNSON PH RICHARDS AJ LLOYD JC POPE FM HOPKINSON DA
Citation: Ph. Johnson et al., EFFICIENT STRATEGY FOR THE DETECTION OF MUTATIONS IN ACROGERIC EHLERS-DANLOS SYNDROME TYPE-IV, Human mutation, 6(4), 1995, pp. 336-342
Risultati: 1-25 | 26-50 | 51-51