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Results: 1-25 | 26-29
Results: 1-25/29
NUCHAL THICKENING IN JACOBSEN-SYNDROME
Authors: MCCLELLAND SM SMITH APM SMITH NC GRAY ES DIACK JSW DEAN JCS
Citation: Sm. Mcclelland et al., NUCHAL THICKENING IN JACOBSEN-SYNDROME, Ultrasound in obstetrics & gynecology, 12(4), 1998, pp. 280-282
OPITZ OCULO-GENITO-LARYNGEAL SYNDROME - A RARE CAUSE OF RECURRENT ASPIRATION PNEUMONIA IN AN ADULT
Authors: DESILVA D OSBORNE A SIMPSON SA DEAN JCS SEATON A
Citation: D. Desilva et al., OPITZ OCULO-GENITO-LARYNGEAL SYNDROME - A RARE CAUSE OF RECURRENT ASPIRATION PNEUMONIA IN AN ADULT, Thorax, 53(2), 1998, pp. 149-150
A TRUE HERMAPHRODITE CHIMERA RESULTING FROM EMBRYO AMALGAMATION AFTERIN-VITRO FERTILIZATION
Authors: STRAIN L DEAN JCS HAMILTON MPR BONTHRON DT
Citation: L. Strain et al., A TRUE HERMAPHRODITE CHIMERA RESULTING FROM EMBRYO AMALGAMATION AFTERIN-VITRO FERTILIZATION, The New England journal of medicine, 338(3), 1998, pp. 166-169
MOSAICISM FOR A TANDEM DUPLICATION DUP(1)(Q12Q22) IN AN 18-YEAR-OLD FEMALE
Authors: DESILVA D MASSIE D DRUMMOND J COUZIN D DEAN JCS
Citation: D. Desilva et al., MOSAICISM FOR A TANDEM DUPLICATION DUP(1)(Q12Q22) IN AN 18-YEAR-OLD FEMALE, Journal of Medical Genetics, 35(7), 1998, pp. 600-603
CRANIOSYNOSTOSIS AND CHROMOSOME 22Q11 DELETION
Authors: DEAN JCS DESILVA DC REARDON W
Citation: Jcs. Dean et al., CRANIOSYNOSTOSIS AND CHROMOSOME 22Q11 DELETION, Journal of Medical Genetics, 35(4), 1998, pp. 346-346
P67L - A CYSTIC-FIBROSIS ALLELE WITH MILD EFFECTS FOUND AT HIGH-FREQUENCY IN THE SCOTTISH POPULATION
Authors: GILFILLAN A WARNER JP KIRK JM MARSHALL T GREENING A HO LP HARGREAVE T STACK B MCINTYRE D DAVIDSON R DEAN JCS MIDDLETON W BROCK DJH
Citation: A. Gilfillan et al., P67L - A CYSTIC-FIBROSIS ALLELE WITH MILD EFFECTS FOUND AT HIGH-FREQUENCY IN THE SCOTTISH POPULATION, Journal of Medical Genetics, 35(2), 1998, pp. 122-125
LIFE EXPECTANCY IN BRITISH MARFAN-SYNDROME POPULATIONS
Authors: GRAY JR BRIDGES AB WEST RR MCLEISH L STUART AG DEAN JCS PORTEOUS MEM BOXER M DAVIES SJ
Citation: Jr. Gray et al., LIFE EXPECTANCY IN BRITISH MARFAN-SYNDROME POPULATIONS, Clinical genetics, 54(2), 1998, pp. 124-128
MULVIHILL-SMITH PROGERIA-LIKE SYNDROME - A FURTHER REPORT WITH DELINEATION OF PHENOTYPE, IMMUNOLOGICAL DEFICITS, AND NOVEL OBSERVATION OF FIBROBLAST ABNORMALITIES
Authors: DESILVA DC WHEATLEY DN HERRIOT R BROWN T STEVENSON DAJ HELMS P DEAN JCS
Citation: Dc. Desilva et al., MULVIHILL-SMITH PROGERIA-LIKE SYNDROME - A FURTHER REPORT WITH DELINEATION OF PHENOTYPE, IMMUNOLOGICAL DEFICITS, AND NOVEL OBSERVATION OF FIBROBLAST ABNORMALITIES, American journal of medical genetics, 69(1), 1997, pp. 56-64
CRANIOSYNOSTOSIS ASSOCIATED WITH FGFR3 PRO250ARG MUTATION RESULTS IN A RANGE OF CLINICAL PRESENTATIONS INCLUDING UNISUTURAL SPORADIC CRANIOSYNOSTOSIS
Authors: REARDON W WILKES D RUTLAND P PULLEYN LJ MALCOLM S DEAN JCS EVANS RD JONES BM HAYWARD R HALL CM NEVIN NC BARAITSER M WINTER RM
Citation: W. Reardon et al., CRANIOSYNOSTOSIS ASSOCIATED WITH FGFR3 PRO250ARG MUTATION RESULTS IN A RANGE OF CLINICAL PRESENTATIONS INCLUDING UNISUTURAL SPORADIC CRANIOSYNOSTOSIS, Journal of Medical Genetics, 34(8), 1997, pp. 632-636
EMBRYO AMALGAMATION AFTER IN-VITRO FERTILIZATION, RESULTING IN A TRUEHERMAPHRODITE CHIMERA
Authors: BONTHRON D STRAIN L DEAN JCS
Citation: D. Bonthron et al., EMBRYO AMALGAMATION AFTER IN-VITRO FERTILIZATION, RESULTING IN A TRUEHERMAPHRODITE CHIMERA, Journal of Medical Genetics, 34, 1997, pp. 37-37
FRAGILE-X-SYNDROME RESULTING FROM A DELETION OF THE FMR1 GENE
Authors: MOORE S DEAN JCS COLE GF HAMILTON L KELLY KF STRAIN L WARNER J
Citation: S. Moore et al., FRAGILE-X-SYNDROME RESULTING FROM A DELETION OF THE FMR1 GENE, Journal of Medical Genetics, 34, 1997, pp. 541-541
AMALGAMATION OF IN-VITRO FERTILIZED EMBRYOS, RESULTING IN BIRTH OF A TRUE HERMAPHRODITE CHIMERA
Authors: BONTHRON DT STRAIN L DEAN JCS
Citation: Dt. Bonthron et al., AMALGAMATION OF IN-VITRO FERTILIZED EMBRYOS, RESULTING IN BIRTH OF A TRUE HERMAPHRODITE CHIMERA, American journal of human genetics, 61(4), 1997, pp. 841-841
CYSTIC-FIBROSIS SCREENING POLICIES
Authors: HALL MH MIEDZYBRODZKA ZH HAITES NE DEAN JCS
Citation: Mh. Hall et al., CYSTIC-FIBROSIS SCREENING POLICIES, Lancet, 347(9006), 1996, pp. 969-969
A SCOTTISH FAMILY WITH BAZEX-DUPRE-CHRISTOL SYNDROME - FOLLICULAR ATROPHODERMA, CONGENITAL HYPOTRICHOSIS, AND BASAL-CELL CARCINOMA
Authors: KIDD A CARSON L GREGORY DW DESILVA D HOLMES J DEAN JCS HAITES N
Citation: A. Kidd et al., A SCOTTISH FAMILY WITH BAZEX-DUPRE-CHRISTOL SYNDROME - FOLLICULAR ATROPHODERMA, CONGENITAL HYPOTRICHOSIS, AND BASAL-CELL CARCINOMA, Journal of Medical Genetics, 33(6), 1996, pp. 493-497
CRANIAL DESMOID TUMOR-ASSOCIATED WITH HOMOZYGOUS INACTIVATION OF THE ADENOMATOUS POLYPOSIS-COLI GENE IN A 2-YEAR-OLD GIRL WITH FAMILIAL ADENOMATOUS POLYPOSIS
Authors: DESILVA DC WRIGHT MF STEVENSON DAJ CLARK C GRAY ES HOLMES JD DEAN JCS HAITES NE DUNLOP MG
Citation: Dc. Desilva et al., CRANIAL DESMOID TUMOR-ASSOCIATED WITH HOMOZYGOUS INACTIVATION OF THE ADENOMATOUS POLYPOSIS-COLI GENE IN A 2-YEAR-OLD GIRL WITH FAMILIAL ADENOMATOUS POLYPOSIS, Cancer, 77(5), 1996, pp. 972-976
ANTENATAL SCREENING FOR CARRIERS OF CYSTIC-FIBROSIS - RANDOMIZED TRIAL OF STEPWISE V COUPLE SCREENING
Authors: MIEDZYBRODZKA ZH HALL MH MOLLISON J TEMPLETON A RUSSELL IT DEAN JCS KELLY KF MARTEAU TM HAITES NE
Citation: Zh. Miedzybrodzka et al., ANTENATAL SCREENING FOR CARRIERS OF CYSTIC-FIBROSIS - RANDOMIZED TRIAL OF STEPWISE V COUPLE SCREENING, BMJ. British medical journal, 310(6976), 1995, pp. 353-357
TURNERS-SYNDROME WITH SEX-CHROMOSOME MOSAICISM
Authors: RANJAN V JANDIAL V DEAN JCS
Citation: V. Ranjan et al., TURNERS-SYNDROME WITH SEX-CHROMOSOME MOSAICISM, European journal of obstetrics, gynecology, and reproductive biology, 59(1), 1995, pp. 109-110
PRELIMINARY PHENOTYPIC MAP OF CHROMOSOME 4P16 BASED ON 4P DELETIONS
Authors: ESTABROOKS LL RAO KW DRISCOLL DA CRANDALL BF DEAN JCS IKONEN E KORF B AYLSWORTH AS
Citation: Ll. Estabrooks et al., PRELIMINARY PHENOTYPIC MAP OF CHROMOSOME 4P16 BASED ON 4P DELETIONS, American journal of medical genetics, 57(4), 1995, pp. 581-586
ASCERTAINMENT OF MYOTONIC-DYSTROPHY THROUGH CATARACT BY SELECTIVE SCREENING
Authors: KIDD A TURNPENNY P KELLY K CLARK C CHURCH W HUTCHINSON C DEAN JCS HAITES NE
Citation: A. Kidd et al., ASCERTAINMENT OF MYOTONIC-DYSTROPHY THROUGH CATARACT BY SELECTIVE SCREENING, Journal of Medical Genetics, 32(7), 1995, pp. 519-523
ANTENATAL CARRIER SCREENING FOR CYSTIC-FIBROSIS - RANDOMIZED TRIAL OFSTEPWISE V-COUPLE SCREENING
Authors: MIEDZYBRODZKA ZH HALL MH MOLLISON J TEMPLETON A RUSSELL IT DEAN JCS KELLY KF MARTEAU TM HAITES NE
Citation: Zh. Miedzybrodzka et al., ANTENATAL CARRIER SCREENING FOR CYSTIC-FIBROSIS - RANDOMIZED TRIAL OFSTEPWISE V-COUPLE SCREENING, Journal of Medical Genetics, 32(2), 1995, pp. 140-140
MARFANS-SYNDROME - AORTIC DISTENSIBILITY (MEASURED BY MRI) AND FAMILYPHENOTYPE
Authors: DEAN JCS ADAMS JN BROOKES M GRAY JR REDPATH TW SMITH FW WALTON S TRENT RJ
Citation: Jcs. Dean et al., MARFANS-SYNDROME - AORTIC DISTENSIBILITY (MEASURED BY MRI) AND FAMILYPHENOTYPE, Journal of Medical Genetics, 32(2), 1995, pp. 149-149
GENETIC PREDICTION OF ADULT-ONSET DISEASE
Authors: SIMPSON SA DEAN JCS HAITES NE
Citation: Sa. Simpson et al., GENETIC PREDICTION OF ADULT-ONSET DISEASE, BMJ. British medical journal, 308(6927), 1994, pp. 535-535
TUBEROUS SCLEROSIS - AN UNUSUAL CAUSE OF SEIZURES IN AN 18 YEAR-OLD
Authors: DESILVA DC JOHNSTON AW DEAN JCS
Citation: Dc. Desilva et al., TUBEROUS SCLEROSIS - AN UNUSUAL CAUSE OF SEIZURES IN AN 18 YEAR-OLD, Scottish Medical Journal, 39(1), 1994, pp. 19-20
A NEW DOMINANTLY INHERITED ECTODERMAL DYSPLASIA PRESENTING WITH NATALTEETH
Authors: TURNPENNY PD DESILVA D GREGORY DW GRAY ES DEAN JCS
Citation: Pd. Turnpenny et al., A NEW DOMINANTLY INHERITED ECTODERMAL DYSPLASIA PRESENTING WITH NATALTEETH, Journal of Medical Genetics, 31(2), 1994, pp. 171-171
SEVERITY OF CHEST DISEASE IN CF PATIENTS IN RELATION TO THEIR GENOTYPES
Authors: PACKE GE MIEDZYBRODZKA ZH DEAN JCS
Citation: Ge. Packe et al., SEVERITY OF CHEST DISEASE IN CF PATIENTS IN RELATION TO THEIR GENOTYPES, Journal of Medical Genetics, 30(8), 1993, pp. 709-709
Risultati: 1-25 | 26-29