AAAAAA

   
Results: 1-23 |
Results: 23
MAPPING THE GENE FOR TNDM TO A 5.3 MB REGION AT 6Q24
Authors: TEMPLE KI GARDNER RJ ROBINSON DO BARBER JCK SHIELD JP
Citation: Ki. Temple et al., MAPPING THE GENE FOR TNDM TO A 5.3 MB REGION AT 6Q24, European journal of human genetics, 6, 1998, pp. 4035-4035
MAPPING THE GENE FOR TRANSIENT NEONATAL DIABETES TO A 5.3 MB REGION AT 6Q24
Authors: TEMPLE K GARDNER RJ ROBINSON DO BARBER JCK SHIELD JP
Citation: K. Temple et al., MAPPING THE GENE FOR TRANSIENT NEONATAL DIABETES TO A 5.3 MB REGION AT 6Q24, European journal of human genetics, 6, 1998, pp. 4202-4202
CODE OF PRACTICE AND GUIDANCE ON HUMAN GENETIC TESTING SERVICES SUPPLIED DIRECT TO THE PUBLIC - ADVISORY-COMMITTEE ON GENETIC TESTING
Authors: BARBER JCK
Citation: Jck. Barber, CODE OF PRACTICE AND GUIDANCE ON HUMAN GENETIC TESTING SERVICES SUPPLIED DIRECT TO THE PUBLIC - ADVISORY-COMMITTEE ON GENETIC TESTING, Journal of Medical Genetics, 35(6), 1998, pp. 443-445
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
RDCI, THE VASOACTIVE-INTESTINAL-PEPTIDE RECEPTOR - A CANDIDATE GENE FOR THE FEATURES OF ALBRIGHT HEREDITARY OSTEODYSTROPHY ASSOCIATED WITH DELETION OF 2Q37
Authors: POWER MM JAMES RS BARBER JCK FISHER AM WOOD PJ LEATHERDALE BA FLANAGAN DEH HATCHWELL E
Citation: Mm. Power et al., RDCI, THE VASOACTIVE-INTESTINAL-PEPTIDE RECEPTOR - A CANDIDATE GENE FOR THE FEATURES OF ALBRIGHT HEREDITARY OSTEODYSTROPHY ASSOCIATED WITH DELETION OF 2Q37, Journal of Medical Genetics, 34(4), 1997, pp. 287-290
CENTROMERIC INACTIVATION IN A DICENTRIC HUMAN Y-21 TRANSLOCATION CHROMOSOME
Authors: FISHER AM ALGAZALI L PRAMATHAN T QUAIFE R COCKWELL AE BARBER JCK EARNSHAW WC AXELMAN J MIGEON BR TYLERSMITH C
Citation: Am. Fisher et al., CENTROMERIC INACTIVATION IN A DICENTRIC HUMAN Y-21 TRANSLOCATION CHROMOSOME, Chromosoma, 106(4), 1997, pp. 199-206
INHERITED INTERSTITIAL DUPLICATIONS OF PROXIMAL 15Q - GENOTYPE-PHENOTYPE CORRELATIONS
Authors: BROWNE CE DENNIS NR MAHER E LONG FL NICHOLSON JC SILLIBOURNE J BARBER JCK
Citation: Ce. Browne et al., INHERITED INTERSTITIAL DUPLICATIONS OF PROXIMAL 15Q - GENOTYPE-PHENOTYPE CORRELATIONS, American journal of human genetics, 61(6), 1997, pp. 1342-1352
MULTIPAINT FISH - THE RAPID AND RELIABLE WAY TO DEFINE CRYPTIC AND COMPLEX ABNORMALITIES
Authors: JOYCE CA ROSS FM BARBER JCK JACOBS PA
Citation: Ca. Joyce et al., MULTIPAINT FISH - THE RAPID AND RELIABLE WAY TO DEFINE CRYPTIC AND COMPLEX ABNORMALITIES, American journal of human genetics, 61(4), 1997, pp. 729-729
FURTHER EVIDENCE FOR AN IMPRINTED GENE FOR NEONATAL DIABETES LOCALIZED TO CHROMOSOME 6Q22-Q23
Authors: TEMPLE IK GARDNER RJ ROBINSON DO KIBIRIGE MS FERGUSON AW BAUM JD BARBER JCK JAMES RS SHIELD JPH
Citation: Ik. Temple et al., FURTHER EVIDENCE FOR AN IMPRINTED GENE FOR NEONATAL DIABETES LOCALIZED TO CHROMOSOME 6Q22-Q23, Human molecular genetics, 5(8), 1996, pp. 1117-1121
RAPID IN-SITU HARVESTING AND CYTOGENETIC ANALYSIS OF PERINATAL TISSUESAMPLES
Authors: FISHER AM COCKWELL AE MOORE KJ GREGSON NM CAMPBELL PL CAMPBELL CM HERBERT A BARBER JCK CROLLA JA
Citation: Am. Fisher et al., RAPID IN-SITU HARVESTING AND CYTOGENETIC ANALYSIS OF PERINATAL TISSUESAMPLES, Prenatal diagnosis, 16(7), 1996, pp. 615-621
UNBALANCED TRANSLOCATION IN A MOTHER AND HER SON IN ONE OF 2 5-10 TRANSLOCATION FAMILIES
Authors: BARBER JCK TEMPLE IK CAMPBELL PL COLLINSON MN CAMPBELL CM RENSHAW RM DENNIS NR
Citation: Jck. Barber et al., UNBALANCED TRANSLOCATION IN A MOTHER AND HER SON IN ONE OF 2 5-10 TRANSLOCATION FAMILIES, American journal of medical genetics, 62(1), 1996, pp. 84-90
REPEATED CYTOGENETIC CULTURE FAILURE AS AN INDICATOR OF IMMUNODEFICIENCY
Authors: BARBER JCK WALKER JM BARKER MR MCNINCH AW HALLETT RJ
Citation: Jck. Barber et al., REPEATED CYTOGENETIC CULTURE FAILURE AS AN INDICATOR OF IMMUNODEFICIENCY, Lancet, 348(9040), 1996, pp. 1518-1518
IMPORTANCE OF MICRODELETIONS OF CHROMOSOMAL REGION 22Q11 AS A CAUSE OF SELECTED MALFORMATIONS OF THE VENTRICULAR OUTFLOW TRACTS AND AORTIC-ARCH - A 3-YEAR PROSPECTIVE-STUDY
Authors: WEBBER SA HATCHWELL E BARBER JCK DAUBENEY PEF CROLLA JA SALMON AP KEETON BR TEMPLE IK DENNIS NR
Citation: Sa. Webber et al., IMPORTANCE OF MICRODELETIONS OF CHROMOSOMAL REGION 22Q11 AS A CAUSE OF SELECTED MALFORMATIONS OF THE VENTRICULAR OUTFLOW TRACTS AND AORTIC-ARCH - A 3-YEAR PROSPECTIVE-STUDY, The Journal of pediatrics, 129(1), 1996, pp. 26-32
WILLIAMS-BEUREN SYNDROME - PHENOTYPIC VARIABILITY AND DELETIONS OF CHROMOSOME-7, CHROMOSOME-11, AND CHROMOSOME-22 IN A SERIES OF 52 PATIENTS
Authors: JOYCE CA ZORICH B PIKE SJ BARBER JCK DENNIS NR
Citation: Ca. Joyce et al., WILLIAMS-BEUREN SYNDROME - PHENOTYPIC VARIABILITY AND DELETIONS OF CHROMOSOME-7, CHROMOSOME-11, AND CHROMOSOME-22 IN A SERIES OF 52 PATIENTS, Journal of Medical Genetics, 33(12), 1996, pp. 986-992
FERTILITY, REPRODUCTIVE OUTCOMES, AND HEALTH OF OFFSPRING, OF PATIENTS TREATED FOR HODGKINS-DISEASE - AN INVESTIGATION INCLUDING CHROMOSOMEEXAMINATIONS
Authors: SWERDLOW AJ JACOBS PA MARKS A MAHER EJ YOUNG T BARBER JCK HUDSON GV
Citation: Aj. Swerdlow et al., FERTILITY, REPRODUCTIVE OUTCOMES, AND HEALTH OF OFFSPRING, OF PATIENTS TREATED FOR HODGKINS-DISEASE - AN INVESTIGATION INCLUDING CHROMOSOMEEXAMINATIONS, British Journal of Cancer, 74(2), 1996, pp. 291-296
PARENTS AND OFFSPRING WITH THE SAME UNBALANCED CHROMOSOME REARRANGEMENTS
Authors: BARBER JCK COLLINSON MN BROWNE CE CAMPBELL CM CAMPBELL PL GREGSON NM JOYCE CA SILLITOE NM TEMPLE IK
Citation: Jck. Barber et al., PARENTS AND OFFSPRING WITH THE SAME UNBALANCED CHROMOSOME REARRANGEMENTS, Journal of Medical Genetics, 32(2), 1995, pp. 138-138
T(8-21) MYELODYSPLASIA, AN EARLY PRESENTATION OF M2 AML
Authors: TAJ AS ROSS FM VICKERS M CHOUDHURY DN HARVEY JF BARBER JCK BARTON C SMITH AG
Citation: As. Taj et al., T(8-21) MYELODYSPLASIA, AN EARLY PRESENTATION OF M2 AML, British Journal of Haematology, 89(4), 1995, pp. 890-892
EUCHROMATIC HETEROMORPHISM OR DUPLICATION WITHOUT PHENOTYPIC EFFECT
Authors: BARBER JCK
Citation: Jck. Barber, EUCHROMATIC HETEROMORPHISM OR DUPLICATION WITHOUT PHENOTYPIC EFFECT, Prenatal diagnosis, 14(4), 1994, pp. 323-324
SMALL TERMINAL DELETIONS OF THE LONG ARM OF CHROMOSOME-2 - 2 NEW CASES
Authors: FISHER AM ELLIS KH BROWNE CE BARBER JCK BARKER M KENNEDY CR FOLEY H PATTON MA
Citation: Am. Fisher et al., SMALL TERMINAL DELETIONS OF THE LONG ARM OF CHROMOSOME-2 - 2 NEW CASES, American journal of medical genetics, 53(4), 1994, pp. 366-369
PROTELOMERIC SEQUENCES ARE DELETED IN CASES OF SHORT ARM INVERTED DUPLICATION OF CHROMOSOME-8
Authors: BARBER JCK JAMES RS PATCH C TEMPLE IK
Citation: Jck. Barber et al., PROTELOMERIC SEQUENCES ARE DELETED IN CASES OF SHORT ARM INVERTED DUPLICATION OF CHROMOSOME-8, American journal of medical genetics, 50(3), 1994, pp. 296-299
DIAPHRAGMATIC HERNIAE AND TRANSLOCATIONS INVOLVING 8Q22 IN 2 PATIENTS
Authors: TEMPLE IK BARBER JCK JAMES RS BURGE D
Citation: Ik. Temple et al., DIAPHRAGMATIC HERNIAE AND TRANSLOCATIONS INVOLVING 8Q22 IN 2 PATIENTS, Journal of Medical Genetics, 31(9), 1994, pp. 735-737
ADENOMATOUS POLYPOSIS-COLI AND A CYTOGENETIC DELETION OF CHROMOSOME-5RESULTING FROM A MATERNAL INTRACHROMOSOMAL INSERTION
Authors: BARBER JCK ELLIS KH BOWLES LV DELHANTY JDA EDE RF MALE BM ECCLES DM
Citation: Jck. Barber et al., ADENOMATOUS POLYPOSIS-COLI AND A CYTOGENETIC DELETION OF CHROMOSOME-5RESULTING FROM A MATERNAL INTRACHROMOSOMAL INSERTION, Journal of Medical Genetics, 31(4), 1994, pp. 312-316
MOSAIC TETRASOMY-8P - MOLECULAR CYTOGENETIC CONFIRMATION AND MEASUREMENT OF GLUTATHIONE-REDUCTASE AND TISSUE-PLASMINOGEN ACTIVATOR LEVELS
Authors: FISHER AM BARBER JCK CROLLA JA JAMES RS LESTAS AN JENNINGS I DENNIS NR
Citation: Am. Fisher et al., MOSAIC TETRASOMY-8P - MOLECULAR CYTOGENETIC CONFIRMATION AND MEASUREMENT OF GLUTATHIONE-REDUCTASE AND TISSUE-PLASMINOGEN ACTIVATOR LEVELS, American journal of medical genetics, 47(1), 1993, pp. 100-105
Risultati: 1-23 |