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EXPERIENCE IN PRENATAL-DIAGNOSIS OF PRIMARY HYPEROXALURIA TYPE-1
Authors: RUMSBY G
Citation: G. Rumsby, EXPERIENCE IN PRENATAL-DIAGNOSIS OF PRIMARY HYPEROXALURIA TYPE-1, JN. Journal of nephrology, 11, 1998, pp. 13-14
IDENTIFICATION OF NEW MUTATIONS IN PRIMARY HYPEROXALURIA TYPE-1 (PH1)
Authors: VONSCHNAKENBURG C RUMSBY G
Citation: C. Vonschnakenburg et G. Rumsby, IDENTIFICATION OF NEW MUTATIONS IN PRIMARY HYPEROXALURIA TYPE-1 (PH1), JN. Journal of nephrology, 11, 1998, pp. 15-17
PRIMARY HYPEROXALURIA TYPE-2 - ENZYMOLOGY
Authors: GIAFI CF RUMSBY G
Citation: Cf. Giafi et G. Rumsby, PRIMARY HYPEROXALURIA TYPE-2 - ENZYMOLOGY, JN. Journal of nephrology, 11, 1998, pp. 29-31
GENOTYPE-PHENOTYPE ANALYSIS IN LATE-ONSET 21-HYDROXYLASE DEFICIENCY IN COMPARISON TO THE CLASSICAL FORMS
Authors: RUMSBY G AVEY CJ CONWAY GS HONOUR JW
Citation: G. Rumsby et al., GENOTYPE-PHENOTYPE ANALYSIS IN LATE-ONSET 21-HYDROXYLASE DEFICIENCY IN COMPARISON TO THE CLASSICAL FORMS, Clinical endocrinology, 48(6), 1998, pp. 707-711
CARRIER STATUS FOR STEROID 21-HYDROXYLASE DEFICIENCY IS ONLY ONE FACTOR IN THE VARIABLE PHENOTYPE OF ACNE
Authors: OSTLERE LS RUMSBY G HOLOWNIA P JACOBS HS RUSTIN MHA HONOUR JW
Citation: Ls. Ostlere et al., CARRIER STATUS FOR STEROID 21-HYDROXYLASE DEFICIENCY IS ONLY ONE FACTOR IN THE VARIABLE PHENOTYPE OF ACNE, Clinical endocrinology, 48(2), 1998, pp. 209-215
VARIABLE PRESENTATION OF PRIMARY HYPEROXALURIA TYPE-1 IN 2 PATIENTS HOMOZYGOUS FOR A NOVEL COMBINED DELETION AND INSERTION MUTATION IN EXON-8 OF THE AGXT GENE
Authors: VONSCHNAKENBURG C HULTON SA MILFORD DV ROPER HP RUMSBY G
Citation: C. Vonschnakenburg et al., VARIABLE PRESENTATION OF PRIMARY HYPEROXALURIA TYPE-1 IN 2 PATIENTS HOMOZYGOUS FOR A NOVEL COMBINED DELETION AND INSERTION MUTATION IN EXON-8 OF THE AGXT GENE, Nephron, 78(4), 1998, pp. 485-488
GENOTYPE AND PHENOTYPE IN HYPOCHONDROPLASIA
Authors: RAMASWAMI U RUMSBY G HINDMARSH PC BROOK CGD
Citation: U. Ramaswami et al., GENOTYPE AND PHENOTYPE IN HYPOCHONDROPLASIA, The Journal of pediatrics, 133(1), 1998, pp. 99-102
AVAILABILITY OF ASSAYS FOR DEFINITIVE DIAGNOSIS OF PRIMARY HYPEROXALURIA TYPE-1 AND TYPE-2
Authors: RUMSBY G SAMUELL C
Citation: G. Rumsby et C. Samuell, AVAILABILITY OF ASSAYS FOR DEFINITIVE DIAGNOSIS OF PRIMARY HYPEROXALURIA TYPE-1 AND TYPE-2, Clinical chemistry, 44(3), 1998, pp. 694-694
KINETIC-ANALYSIS AND TISSUE DISTRIBUTION OF HUMAN D-GLYCERATE DEHYDROGENASE GLYOXYLATE REDUCTASE AND ITS RELEVANCE TO THE DIAGNOSIS OF PRIMARY HYPEROXALURIA TYPE-2 (VOL 35, PG 104, 1998)/
Authors: GIAFI CF RUMSBY G
Citation: Cf. Giafi et G. Rumsby, KINETIC-ANALYSIS AND TISSUE DISTRIBUTION OF HUMAN D-GLYCERATE DEHYDROGENASE GLYOXYLATE REDUCTASE AND ITS RELEVANCE TO THE DIAGNOSIS OF PRIMARY HYPEROXALURIA TYPE-2 (VOL 35, PG 104, 1998)/, Annals of clinical biochemistry, 35, 1998, pp. 688-688
KINETIC-ANALYSIS AND TISSUE DISTRIBUTION OF HUMAN D-GLYCERATE DEHYDROGENASE GLYOXYLATE REDUCTASE AND ITS RELEVANCE TO THE DIAGNOSIS OF PRIMARY HYPEROXALURIA TYPE-2/
Authors: GIAFI CF RUMSBY G
Citation: Cf. Giafi et G. Rumsby, KINETIC-ANALYSIS AND TISSUE DISTRIBUTION OF HUMAN D-GLYCERATE DEHYDROGENASE GLYOXYLATE REDUCTASE AND ITS RELEVANCE TO THE DIAGNOSIS OF PRIMARY HYPEROXALURIA TYPE-2/, Annals of clinical biochemistry, 35, 1998, pp. 104-109
CHARACTERIZATION OF POLYMORPHISMS AT THE 11-BETA-HYDROXYLASE (CYP11B1) LOCUS
Authors: SKINNER CA YOUSAF N HONOUR JW RUMSBY G
Citation: Ca. Skinner et al., CHARACTERIZATION OF POLYMORPHISMS AT THE 11-BETA-HYDROXYLASE (CYP11B1) LOCUS, Annals of Human Genetics, 62, 1998, pp. 181-183
FREQUENCY OF A POLYMORPHISM IN THE REGULATORY REGION OF THE 17-ALPHA-HYDROXYLASE-17,20-LYASE (CYP17) GENE IN HYPERANDROGENIC STATES
Authors: TECHATRAISAK K CONWAY GS RUMSBY G
Citation: K. Techatraisak et al., FREQUENCY OF A POLYMORPHISM IN THE REGULATORY REGION OF THE 17-ALPHA-HYDROXYLASE-17,20-LYASE (CYP17) GENE IN HYPERANDROGENIC STATES, Clinical endocrinology, 46(2), 1997, pp. 131-134
A VERTICAL (PSEUDODOMINANT) PATTERN OF INHERITANCE IN THE AUTOSOMAL RECESSIVE DISEASE PRIMARY HYPEROXALURIA TYPE-1 - LACK OF RELATIONSHIP BETWEEN GENOTYPE, ENZYMATIC PHENOTYPE, AND DISEASE SEVERITY
Authors: HOPPE B DANPURE CJ RUMSBY G FRYER P JENNINGS PR BLAU N SCHUBIGER G NEUHAUS T LEUMANN E
Citation: B. Hoppe et al., A VERTICAL (PSEUDODOMINANT) PATTERN OF INHERITANCE IN THE AUTOSOMAL RECESSIVE DISEASE PRIMARY HYPEROXALURIA TYPE-1 - LACK OF RELATIONSHIP BETWEEN GENOTYPE, ENZYMATIC PHENOTYPE, AND DISEASE SEVERITY, American journal of kidney diseases, 29(1), 1997, pp. 36-44
PRIMARY HYPEROXALURIA TYPE-1 - DIAGNOSTIC RELEVANCE OF MUTATIONS AND POLYMORPHISMS IN THE ALANINE-GLYOXYLATE AMINOTRANSFERASE GENE (AGXT)
Authors: TARN AC VONSCHNAKENBURG C RUMSBY G
Citation: Ac. Tarn et al., PRIMARY HYPEROXALURIA TYPE-1 - DIAGNOSTIC RELEVANCE OF MUTATIONS AND POLYMORPHISMS IN THE ALANINE-GLYOXYLATE AMINOTRANSFERASE GENE (AGXT), Journal of inherited metabolic disease, 20(5), 1997, pp. 689-696
PRIMARY HYPEROXALURIA TYPE-1 - A CLUSTER OF NEW MUTATIONS IN EXON-7 OF THE AGXT-GENE
Authors: VONSCHNAKENBURG C RUMSBY G
Citation: C. Vonschnakenburg et G. Rumsby, PRIMARY HYPEROXALURIA TYPE-1 - A CLUSTER OF NEW MUTATIONS IN EXON-7 OF THE AGXT-GENE, Journal of Medical Genetics, 34(6), 1997, pp. 489-492
A SEMIAUTOMATED ALANINE-GLYOXYLATE AMINOTRANSFERASE ASSAY FOR THE TISSUE DIAGNOSIS OF PRIMARY HYPEROXALURIA TYPE-1
Authors: RUMSBY G WEIR T SAMUELL CT
Citation: G. Rumsby et al., A SEMIAUTOMATED ALANINE-GLYOXYLATE AMINOTRANSFERASE ASSAY FOR THE TISSUE DIAGNOSIS OF PRIMARY HYPEROXALURIA TYPE-1, Annals of clinical biochemistry, 34, 1997, pp. 400-404
LINKAGE OF MICROSATELLITES TO THE AGXT GENE ON CHROMOSOME 2Q37.3 AND THEIR ROLE IN PRENATAL-DIAGNOSIS OF PRIMARY HYPEROXALURIA TYPE-1
Authors: VONSCHNAKENBURG C WEIR T RUMSBY G
Citation: C. Vonschnakenburg et al., LINKAGE OF MICROSATELLITES TO THE AGXT GENE ON CHROMOSOME 2Q37.3 AND THEIR ROLE IN PRENATAL-DIAGNOSIS OF PRIMARY HYPEROXALURIA TYPE-1, Annals of Human Genetics, 61, 1997, pp. 365-368
VERTICAL (PSEUDODOMINANT) INHERITANCE IN PRIMARY HYPEROXALURIA TYPE-I(PH-I) - DISCREPANCY BETWEEN DISEASE PHENOTYPE AND GENOTYPE
Authors: HOPPE B DANPURE CJ RUMSBY G FRYER P JENNINGS PR BLAU N NEUHAUS T LEUMANN E
Citation: B. Hoppe et al., VERTICAL (PSEUDODOMINANT) INHERITANCE IN PRIMARY HYPEROXALURIA TYPE-I(PH-I) - DISCREPANCY BETWEEN DISEASE PHENOTYPE AND GENOTYPE, Journal of the American Society of Nephrology, 7(9), 1996, pp. 1827-1827
PRIMARY HYPEROXALURIA TYPE-1 CAUSED BY PEROXISOME-TO-MITOCHONDRION MISTARGETING OF ALANINE - GLYOXYLATE AMINOTRANSFERASE
Authors: LHOTTA K RUMSBY G VOGEL W PERNTHALER H FEICHTINGER H KONIG P
Citation: K. Lhotta et al., PRIMARY HYPEROXALURIA TYPE-1 CAUSED BY PEROXISOME-TO-MITOCHONDRION MISTARGETING OF ALANINE - GLYOXYLATE AMINOTRANSFERASE, Nephrology, dialysis, transplantation, 11(11), 1996, pp. 2296-2298
STRATEGIES FOR THE PRENATAL-DIAGNOSIS OF PRIMARY HYPEROXALURIA TYPE-1
Authors: DANPURE CJ RUMSBY G
Citation: Cj. Danpure et G. Rumsby, STRATEGIES FOR THE PRENATAL-DIAGNOSIS OF PRIMARY HYPEROXALURIA TYPE-1, Prenatal diagnosis, 16(7), 1996, pp. 587-598
NON-EXPRESSION OF A COMMON MUTATION IN THE 21-HYDROXYLASE GENE - IMPLICATIONS FOR PRENATAL-DIAGNOSIS AND CARRIER TESTING
Authors: RUMSBY G MASSOUD AF AVEY C BROOK CGD
Citation: G. Rumsby et al., NON-EXPRESSION OF A COMMON MUTATION IN THE 21-HYDROXYLASE GENE - IMPLICATIONS FOR PRENATAL-DIAGNOSIS AND CARRIER TESTING, Journal of Medical Genetics, 33(9), 1996, pp. 798-799
POLYMORPHISMS IN THE ALANINE-GLYOXYLATE AMINOTRANSFERASE GENE AND THEIR APPLICATION TO THE PRENATAL-DIAGNOSIS OF PRIMARY HYPEROXALURIA TYPE-1
Authors: RUMSBY G MANDEL H AVEY C GERAERTS A
Citation: G. Rumsby et al., POLYMORPHISMS IN THE ALANINE-GLYOXYLATE AMINOTRANSFERASE GENE AND THEIR APPLICATION TO THE PRENATAL-DIAGNOSIS OF PRIMARY HYPEROXALURIA TYPE-1, Nephrology, dialysis, transplantation, 10, 1995, pp. 30-32
MENSTRUAL DISTURBANCE AND HYPERSECRETION OF PROGESTERONE IN WOMEN WITH CONGENITAL ADRENAL-HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY
Authors: HOLMESWALKER DJ CONWAY GS HONOUR JW RUMSBY G JACOBS HS
Citation: Dj. Holmeswalker et al., MENSTRUAL DISTURBANCE AND HYPERSECRETION OF PROGESTERONE IN WOMEN WITH CONGENITAL ADRENAL-HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY, Clinical endocrinology, 43(3), 1995, pp. 291-296
STEROID 11-BETA-HYDROXYLASE DEFICIENCY CAUSED BY A 5 BASE-PAIR DUPLICATION IN THE CYP11B1 GENE
Authors: SKINNER CA RUMSBY G
Citation: Ca. Skinner et G. Rumsby, STEROID 11-BETA-HYDROXYLASE DEFICIENCY CAUSED BY A 5 BASE-PAIR DUPLICATION IN THE CYP11B1 GENE, Human molecular genetics, 3(2), 1994, pp. 377-378
MOLECULAR CHARACTERIZATION AND CLINICAL NSE OF A POLYMORPHIC TANDEM REPEAT IN AN INTRON OF THE HUMAN ALANINE-GLYOXYLATE AMINOTRANSFERASE GENE
Authors: DANPURE CJ BIRDSEY GM RUMSBY G LUMB MJ PURDUE PE ALLSOP J
Citation: Cj. Danpure et al., MOLECULAR CHARACTERIZATION AND CLINICAL NSE OF A POLYMORPHIC TANDEM REPEAT IN AN INTRON OF THE HUMAN ALANINE-GLYOXYLATE AMINOTRANSFERASE GENE, Human genetics, 94(1), 1994, pp. 55-64
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