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Results: 1-25 | 26-36
Results: 1-25/36
MOLECULAR ANALYSIS OF THE PDS GENE IN PENDRED-SYNDROME (SENSORINEURALHEARING-LOSS AND GOITER)
Authors: COYLE B REARDON W HERBRICK JA TSUI LC GAUSDEN E LEE J COFFEY R GRUETERS A GROSSMAN A PHELPS PD LUXON L KENDALLTAYLOR P SCHERER SW TREMBATH RC
Citation: B. Coyle et al., MOLECULAR ANALYSIS OF THE PDS GENE IN PENDRED-SYNDROME (SENSORINEURALHEARING-LOSS AND GOITER), Human molecular genetics (Print), 7(7), 1998, pp. 1105-1112
GENETICS OF SILVER-RUSSELL-SYNDROME
Authors: WAKELING EL ABUAMERO S PRICE SM STANIER P TREMBATH RC MOORE GE PREECE MA
Citation: El. Wakeling et al., GENETICS OF SILVER-RUSSELL-SYNDROME, Hormone research, 49, 1998, pp. 32-36
THE DIAGNOSIS OF LIDDLE-SYNDROME BY IDENTIFICATION OF A MUTATION IN THE BETA-SUBUNIT OF THE EPITHELIAL SODIUM-CHANNEL
Authors: JACKSON SNJ WILLIAMS B HOUTMAN P TREMBATH RC
Citation: Snj. Jackson et al., THE DIAGNOSIS OF LIDDLE-SYNDROME BY IDENTIFICATION OF A MUTATION IN THE BETA-SUBUNIT OF THE EPITHELIAL SODIUM-CHANNEL, Journal of Medical Genetics, 35(6), 1998, pp. 510-512
RADIOLOGICAL MALFORMATIONS OF THE EAR IN PENDRED-SYNDROME
Authors: PHELPS PD COFFEY RA TREMBATH RC LUXON LM GROSSMAN AB BRITTON KE KENDALLTAYLOR P GRAHAM JM CADGE BC STEPHENS SGD PEMBREY ME REARDON W
Citation: Pd. Phelps et al., RADIOLOGICAL MALFORMATIONS OF THE EAR IN PENDRED-SYNDROME, Clinical Radiology, 53(4), 1998, pp. 268-273
ASSOCIATION OF ATOPIC-DERMATITIS TO THE BETA-SUBUNIT OF THE HIGH-AFFINITY IMMUNOGLOBULIN-E RECEPTOR
Authors: COX HE MOFFATT MF FAUX JA WALLEY AJ COLEMAN R TREMBATH RC COOKSON WOCM HARPER JI
Citation: He. Cox et al., ASSOCIATION OF ATOPIC-DERMATITIS TO THE BETA-SUBUNIT OF THE HIGH-AFFINITY IMMUNOGLOBULIN-E RECEPTOR, British journal of dermatology, 138(1), 1998, pp. 182-187
A DEFECT IN THE REGIONAL DEPOSITION OF ADIPOSE-TISSUE (PARTIAL LIPODYSTROPHY) IS ENCODED BY A GENE AT CHROMOSOME 1Q
Authors: JACKSON SNJ PINKNEY J BARGIOTTA A VEAL CD HOWLETT TA MCNALLY PG CORRAL R JOHNSON A TREMBATH RC
Citation: Snj. Jackson et al., A DEFECT IN THE REGIONAL DEPOSITION OF ADIPOSE-TISSUE (PARTIAL LIPODYSTROPHY) IS ENCODED BY A GENE AT CHROMOSOME 1Q, American journal of human genetics, 63(2), 1998, pp. 534-540
DUNNIGAN-KOBBERLING SYNDROME - AN AUTOSOMAL-DOMINANT FORM OF PARTIAL LIPODYSTROPHY
Authors: JACKSON SNJ HOWLETT TA MCNALLY PG ORAHILLY S TREMBATH RC
Citation: Snj. Jackson et al., DUNNIGAN-KOBBERLING SYNDROME - AN AUTOSOMAL-DOMINANT FORM OF PARTIAL LIPODYSTROPHY, Quarterly Journal of Medicine, 90(1), 1997, pp. 27-36
IDENTIFICATION OF A MAJOR SUSCEPTIBILITY LOCUS ON CHROMOSOME 6P AND EVIDENCE FOR FURTHER DISEASE LOCI REVEALED BY A 2-STAGE GENOME-WIDE SEARCH IN PSORIASIS
Authors: TREMBATH RC CLOUGH RL ROSBOTHAM JL JONES AB CAMP RDR FRODSHAM A BROWNE J BARBER R TERWILLIGER J LATHROP GM BARKER JNWN
Citation: Rc. Trembath et al., IDENTIFICATION OF A MAJOR SUSCEPTIBILITY LOCUS ON CHROMOSOME 6P AND EVIDENCE FOR FURTHER DISEASE LOCI REVEALED BY A 2-STAGE GENOME-WIDE SEARCH IN PSORIASIS, Human molecular genetics, 6(5), 1997, pp. 813-820
NORMAL ERYTHROCYTE-MEMBRANE GS-ALPHA BIOACTIVITY IN 2 UNRELATED PATIENTS WITH ACRODYSOSTOSIS
Authors: WILSON LC LUTTIKHUIS MEMO BARAITSER M KINGSTON HM TREMBATH RC
Citation: Lc. Wilson et al., NORMAL ERYTHROCYTE-MEMBRANE GS-ALPHA BIOACTIVITY IN 2 UNRELATED PATIENTS WITH ACRODYSOSTOSIS, Journal of Medical Genetics, 34(2), 1997, pp. 133-136
MATERNAL UNIPARENTAL DISOMY-7 IN SILVER-RUSSELL SYNDROME
Authors: PREECE MA PRICE SM DAVIES V CLOUGH L STANIER P TREMBATH RC MOORE GE
Citation: Ma. Preece et al., MATERNAL UNIPARENTAL DISOMY-7 IN SILVER-RUSSELL SYNDROME, Journal of Medical Genetics, 34(1), 1997, pp. 6-9
FINE MAPPING OF THE MAJOR PSORIASIS SUSCEPTIBILITY LOCUS ON CHROMOSOME 6P21 - LINKAGE DISEQUILIBRIUM IS STRONGEST TO MARKERS SEPARATE FROM HLA-C
Authors: CLOUGH RL BARBER R ROSBOTHAM JL JONES AB CAMPBELL D TERWILLIGER J LATHROP GM BARKER JNWN TREMBATH RC
Citation: Rl. Clough et al., FINE MAPPING OF THE MAJOR PSORIASIS SUSCEPTIBILITY LOCUS ON CHROMOSOME 6P21 - LINKAGE DISEQUILIBRIUM IS STRONGEST TO MARKERS SEPARATE FROM HLA-C, Journal of investigative dermatology, 109(3), 1997, pp. 417-417
GENETIC-STUDIES OF ATOPY AND ATOPIC-DERMATITIS
Authors: COLEMAN R TREMBATH RC HARPER JI
Citation: R. Coleman et al., GENETIC-STUDIES OF ATOPY AND ATOPIC-DERMATITIS, British journal of dermatology, 136(1), 1997, pp. 1-5
EVIDENCE OF GENETIC HOMOGENEITY FOR FAMILIAR PRIMARY PULMONARY-HYPERTENSION AND HAPLOTYPE BASED REFINEMENT OF LINKAGE AT 2Q31
Authors: TREMBATH RC VEAL C ALDRED M HIGENBOTTAM T KOLLER DL CONNEALLY PM GINSBURG D WHEELER L PHILIPS JA NEWMAN JH FOROUD T NICHOLS WC LOYD JE
Citation: Rc. Trembath et al., EVIDENCE OF GENETIC HOMOGENEITY FOR FAMILIAR PRIMARY PULMONARY-HYPERTENSION AND HAPLOTYPE BASED REFINEMENT OF LINKAGE AT 2Q31, American journal of human genetics, 61(4), 1997, pp. 61-61
FAMILIAL EXUDATIVE VITREORETINOPATHY LINKED TO D11S533 IN A LARGE ASIAN FAMILY WITH CONSANGUINITY
Authors: PRICE SM PERIAM N HUMPHRIES A WOODRUFF G TREMBATH RC
Citation: Sm. Price et al., FAMILIAL EXUDATIVE VITREORETINOPATHY LINKED TO D11S533 IN A LARGE ASIAN FAMILY WITH CONSANGUINITY, Ophthalmic genetics, 17(2), 1996, pp. 53-57
FAMILIAL INFILTRATIVE FIBROMATOSIS (DESMOID TUMORS) (MIM135290) CAUSED BY A RECURRENT 3'-APC GENE MUTATION
Authors: SCOTT RJ FROGGATT NJ TREMBATH RC EVANS DGR HODGSON SV MAHER ER
Citation: Rj. Scott et al., FAMILIAL INFILTRATIVE FIBROMATOSIS (DESMOID TUMORS) (MIM135290) CAUSED BY A RECURRENT 3'-APC GENE MUTATION, Human molecular genetics, 5(12), 1996, pp. 1921-1924
PENDRED SYNDROME
Authors: REARDON W TREMBATH RC
Citation: W. Reardon et Rc. Trembath, PENDRED SYNDROME, Journal of Medical Genetics, 33(12), 1996, pp. 1037-1040
ISOLATED AUTOSOMAL-DOMINANT TYPE-E BRACHYDACTYLY - EXCLUSION OF LINKAGE TO CANDIDATE REGIONS 2Q37 AND 20Q13
Authors: LUTTIKHUIS MEMO WILLIAMS DK TREMBATH RC
Citation: Memo. Luttikhuis et al., ISOLATED AUTOSOMAL-DOMINANT TYPE-E BRACHYDACTYLY - EXCLUSION OF LINKAGE TO CANDIDATE REGIONS 2Q37 AND 20Q13, Journal of Medical Genetics, 33(10), 1996, pp. 873-876
A DELETION HOT-SPOT IN EXON-7 OF THE G(S)ALPHA GENE (GNAS1) IN PATIENTS WITH ALBRIGHT HEREDITARY OSTEODYSTROPHY
Authors: YU SH YU DW HAINLINE BE BRENER JL WILSON KA WILSON LC OUDELUTTIKHUIS ME TREMBATH RC WEINSTEIN LS
Citation: Sh. Yu et al., A DELETION HOT-SPOT IN EXON-7 OF THE G(S)ALPHA GENE (GNAS1) IN PATIENTS WITH ALBRIGHT HEREDITARY OSTEODYSTROPHY, Human molecular genetics, 4(10), 1995, pp. 2001-2002
A MAJOR SUSCEPTIBILITY GENE FOR PSORIASIS MAPS TO 17Q IN BRITISH FAMILIES AND EVIDENCE FOR GENETIC-HETEROGENEITY
Authors: TREMBATH RC ROSBOTHAM JA PERIAM N ARMOUR JAL BARKER JNWN
Citation: Rc. Trembath et al., A MAJOR SUSCEPTIBILITY GENE FOR PSORIASIS MAPS TO 17Q IN BRITISH FAMILIES AND EVIDENCE FOR GENETIC-HETEROGENEITY, Journal of Medical Genetics, 32(2), 1995, pp. 142-143
BRACHYDACTYLY AND MENTAL-RETARDATION - A NEW HAPLOINSUFFICIENCY SYNDROME
Authors: WILSON LC LUTTIKHUIS MEMO FLINT J LEONARD JV TREMBATH RC
Citation: Lc. Wilson et al., BRACHYDACTYLY AND MENTAL-RETARDATION - A NEW HAPLOINSUFFICIENCY SYNDROME, Journal of Medical Genetics, 32(2), 1995, pp. 144-144
HEMIZYGOSITY AT THE ELASTIN LOCUS (7Q11) IN WILLIAMS-SYNDROME - A CLINICAL TOOL
Authors: PERIAM NW PUGSLEY R QUARRELL O MAHER E TREMBATH RC
Citation: Nw. Periam et al., HEMIZYGOSITY AT THE ELASTIN LOCUS (7Q11) IN WILLIAMS-SYNDROME - A CLINICAL TOOL, Journal of Medical Genetics, 32(2), 1995, pp. 145-145
MONOZYGOTIC TWINS DISCORDANT FOR HYPOMELANOSIS OF ITO
Authors: PRICE SM HOLTON A TREMBATH RC
Citation: Sm. Price et al., MONOZYGOTIC TWINS DISCORDANT FOR HYPOMELANOSIS OF ITO, Journal of Medical Genetics, 32(2), 1995, pp. 148-149
NO EVIDENCE OF A MAJOR GENE EFFECT AT DISTAL CHROMOSOME 17Q IN PSORIASIS
Authors: TREMBATH RC ROSBOTHAM JL JULIER C DELEPINE M PERIAM N BARKER JNWN
Citation: Rc. Trembath et al., NO EVIDENCE OF A MAJOR GENE EFFECT AT DISTAL CHROMOSOME 17Q IN PSORIASIS, Journal of investigative dermatology, 104(4), 1995, pp. 628-628
EXCLUSION OF INTERLEUKIN-1 RECEPTOR ANTAGONIST AS A PRIMARY DISEASE DETERMINANT FOR PSORIASIS
Authors: ROSBOTHAM JL BARKER JNWN TREMBATH RC
Citation: Jl. Rosbotham et al., EXCLUSION OF INTERLEUKIN-1 RECEPTOR ANTAGONIST AS A PRIMARY DISEASE DETERMINANT FOR PSORIASIS, Journal of investigative dermatology, 104(2), 1995, pp. 306-306
BRACHYDACTYLY AND MENTAL-RETARDATION - AN ALBRIGHT HEREDITARY OSTEODYSTROPHY-LIKE SYNDROME LOCALIZED TO 2Q37
Authors: WILSON LC LEVERTON K LUTTIKHUIS MEMO OLEY CA FLINT J WOLSTENHOLME J DUCKETT DP BARROW MA LEONARD JV READ AP TREMBATH RC
Citation: Lc. Wilson et al., BRACHYDACTYLY AND MENTAL-RETARDATION - AN ALBRIGHT HEREDITARY OSTEODYSTROPHY-LIKE SYNDROME LOCALIZED TO 2Q37, American journal of human genetics, 56(2), 1995, pp. 400-407
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