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Results: 1-21 |
Results: 21
REDUCED COLLAGEN-VI CAUSES BETHLEM MYOPATHY - A HETEROZYGOUS COL6A1 NONSENSE MUTATION RESULTS IN MESSENGER-RNA DECAY AND FUNCTIONAL HAPLOINSUFFICIENCY
Authors: LAMANDE SR BATEMAN JF HUTCHISON W GARDNER RJM BOWER SP BYRNE E DAHL HHM
Citation: Sr. Lamande et al., REDUCED COLLAGEN-VI CAUSES BETHLEM MYOPATHY - A HETEROZYGOUS COL6A1 NONSENSE MUTATION RESULTS IN MESSENGER-RNA DECAY AND FUNCTIONAL HAPLOINSUFFICIENCY, Human molecular genetics, 7(6), 1998, pp. 981-989
A SYNDROME OF A DISTINCTIVE FACIES AND NORMAL NEUROLOGY
Authors: GARDNER RJM WOODS CG
Citation: Rjm. Gardner et Cg. Woods, A SYNDROME OF A DISTINCTIVE FACIES AND NORMAL NEUROLOGY, Clinical dysmorphology, 7(2), 1998, pp. 155-156
TRISOMY-13 MOSAICISM AT PRENATAL-DIAGNOSIS - DILEMMAS IN INTERPRETATION
Authors: DELATYCKI MB PERTILE MD GARDNER RJM
Citation: Mb. Delatycki et al., TRISOMY-13 MOSAICISM AT PRENATAL-DIAGNOSIS - DILEMMAS IN INTERPRETATION, Prenatal diagnosis, 18(1), 1998, pp. 45-50
SPERM DNA ANALYSIS IN A FRIEDREICH ATAXIA PREMUTATION CARRIER SUGGESTS BOTH MEIOTIC AND MITOTIC EXPANSION IN THE FRDA GENE
Authors: DELATYCKI MB PARIS D GARDNER RJM FORSHAW K NICHOLSON GA NASSIF N WILLIAMSON R FORREST SM
Citation: Mb. Delatycki et al., SPERM DNA ANALYSIS IN A FRIEDREICH ATAXIA PREMUTATION CARRIER SUGGESTS BOTH MEIOTIC AND MITOTIC EXPANSION IN THE FRDA GENE, Journal of Medical Genetics, 35(9), 1998, pp. 713-716
DUPLICATION 10Q22.1-Q25.1 DUE TO INTRACHROMOSOMAL INSERTION - A 2ND CASE
Authors: GOSS PW VOULLAIRE L GARDNER RJM
Citation: Pw. Goss et al., DUPLICATION 10Q22.1-Q25.1 DUE TO INTRACHROMOSOMAL INSERTION - A 2ND CASE, Annales de genetique, 41(3), 1998, pp. 161-163
PRELINGUAL DEAFNESS - HIGH PREVALENCE OF A 30DELG MUTATION IN THE CONNEXIN 26 GENE
Authors: DENOYELLE F WEIL D MAW MA WILCOX SA LENCH NJ ALLENPOWELL DR OSBORN AH DAHL HHM MIDDLETON A HOUSEMAN MJ DODE C MARLIN S BOULILAELGGAIED A GRATI M AYADI H BENARAB S BITOUN P LINAGRANADE G GODET J MUSTAPHA M LOISELET J ELZIR E AUBOIS A JOANNARD A LEVILLIERS J GARABEDIAN EN MUELLER RF GARDNER RJM PETIT C
Citation: F. Denoyelle et al., PRELINGUAL DEAFNESS - HIGH PREVALENCE OF A 30DELG MUTATION IN THE CONNEXIN 26 GENE, Human molecular genetics, 6(12), 1997, pp. 2173-2177
THE D178N (CIS-129M) FATAL FAMILIAL INSOMNIA MUTATION ASSOCIATED WITHDIVERSE CLINICOPATHOLOGICAL PHENOTYPES IN AN AUSTRALIAN KINDRED
Authors: MCLEAN CA STOREY E GARDNER RJM TANNENBERG AEG CERVENAKOVA L BROWN P
Citation: Ca. Mclean et al., THE D178N (CIS-129M) FATAL FAMILIAL INSOMNIA MUTATION ASSOCIATED WITHDIVERSE CLINICOPATHOLOGICAL PHENOTYPES IN AN AUSTRALIAN KINDRED, Neurology, 49(2), 1997, pp. 552-558
THE CLINICAL CORRELATES OF A 3'-TRUNCATING MUTATION (CODONS-1982-1983) IN THE ADENOMATOUS POLYPOSIS-COLI GENE
Authors: GARDNER RJM KOOL D EDKINS E WALPOLE IR MACRAE FA NASIOULAS S SCOTT WJH
Citation: Rjm. Gardner et al., THE CLINICAL CORRELATES OF A 3'-TRUNCATING MUTATION (CODONS-1982-1983) IN THE ADENOMATOUS POLYPOSIS-COLI GENE, Gastroenterology, 113(1), 1997, pp. 326-331
AN EXTREME 3' APC TRUNCATING MUTATION ASSOCIATED WITH AN ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS (FAP) PHENOTYPE
Authors: MACRAE FA GARDNER RJM KOOL D WALPOLE I EDKINS E NASIOULAS S
Citation: Fa. Macrae et al., AN EXTREME 3' APC TRUNCATING MUTATION ASSOCIATED WITH AN ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS (FAP) PHENOTYPE, Gastroenterology, 112(4), 1997, pp. 608-608
3 CASES OF TRISOMY-13 MOSAICISM AND A REVIEW OF THE LITERATURE
Authors: DELATYCKI M GARDNER RJM
Citation: M. Delatycki et Rjm. Gardner, 3 CASES OF TRISOMY-13 MOSAICISM AND A REVIEW OF THE LITERATURE, Clinical genetics, 51(6), 1997, pp. 403-407
THE FRIEDREICH ATAXIA MUTATION MAY ORIGINATE FROM A PREMUTATION AND SHOWS SIZE-REDUCTION WHEN TRANSMITTED FROM PARENT TO AFFECTED CHILD
Authors: FORREST SM DELATYCKI M PARIS D GARDNER RJM FORSHAW K NICHOLSON G NASSIS N WILLIAMSON R
Citation: Sm. Forrest et al., THE FRIEDREICH ATAXIA MUTATION MAY ORIGINATE FROM A PREMUTATION AND SHOWS SIZE-REDUCTION WHEN TRANSMITTED FROM PARENT TO AFFECTED CHILD, American journal of human genetics, 61(4), 1997, pp. 1799-1799
FAMILIAL ADENOMATOUS POLYPOSIS IN A 5-YEAR-OLD CHILD - A CLINICAL, PATHOLOGICAL, AND MOLECULAR-GENETIC STUDY
Authors: DISTANTE S NASIOULAS S SOMERS GR CAMERON DJS YOUNG MA FORREST SM GARDNER RJM
Citation: S. Distante et al., FAMILIAL ADENOMATOUS POLYPOSIS IN A 5-YEAR-OLD CHILD - A CLINICAL, PATHOLOGICAL, AND MOLECULAR-GENETIC STUDY, Journal of Medical Genetics, 33(2), 1996, pp. 157-160
PARACENTRIC INVERSIONS DO NOT NORMALLY GENERATE MONOCENTRIC RECOMBINANT CHROMOSOMES
Authors: SUTHERLAND GR CALLEN DF GARDNER RJM
Citation: Gr. Sutherland et al., PARACENTRIC INVERSIONS DO NOT NORMALLY GENERATE MONOCENTRIC RECOMBINANT CHROMOSOMES, American journal of medical genetics, 59(3), 1995, pp. 390-390
CLINICAL AND HEMATOLOGIC ASPECTS OF THE X-LINKED ALPHA-THALASSEMIA MENTAL-RETARDATION SYNDROME (ATR-X)
Authors: GIBBONS RJ BRUETON L BUCKLE VJ BURN J CLAYTONSMITH J DAVISON BCC GARDNER RJM HOMFRAY T KEARNEY L KINGSTON HM NEWBURYECOB R PORTEOUS MEP WILKIE AOM HIGGS DR
Citation: Rj. Gibbons et al., CLINICAL AND HEMATOLOGIC ASPECTS OF THE X-LINKED ALPHA-THALASSEMIA MENTAL-RETARDATION SYNDROME (ATR-X), American journal of medical genetics, 55(3), 1995, pp. 288-299
A NEW GENETIC TEST FOR PRADER-WILLI AND ANGELMAN SYNDROMES
Authors: LOVELLSMITH CJ WATT AJ GARDNER RJM
Citation: Cj. Lovellsmith et al., A NEW GENETIC TEST FOR PRADER-WILLI AND ANGELMAN SYNDROMES, New Zealand medical journal, 108(999), 1995, pp. 179-179
THE CONTRIBUTION OF THE DFNB1 LOCUS TO NEUROSENSORY DEAFNESS IN A CAUCASIAN POPULATION
Authors: MAW MA ALLENPOWELL DR GOODEY RJ STEWART IA NANCARROW DJ HAYWARD NK GARDNER RJM
Citation: Ma. Maw et al., THE CONTRIBUTION OF THE DFNB1 LOCUS TO NEUROSENSORY DEAFNESS IN A CAUCASIAN POPULATION, American journal of human genetics, 57(3), 1995, pp. 629-635
PRENATAL-DIAGNOSIS OF SJOGREN-LARSSON SYNDROME USING ENZYMATIC METHODS
Authors: RIZZO WB CRAFT DA KELSON TL BONNEFONT JP SAUDUBRAY JM SCHULMAN JD BLACK SH TABSH K DIROCCO M GARDNER RJM
Citation: Wb. Rizzo et al., PRENATAL-DIAGNOSIS OF SJOGREN-LARSSON SYNDROME USING ENZYMATIC METHODS, Prenatal diagnosis, 14(7), 1994, pp. 577-581
MOSAICISM WITH A NORMAL-CELL LINE AND AN AUTOSOMAL STRUCTURAL REARRANGEMENT
Authors: GARDNER RJM DOCKERY HE FITZGERALD PH PARFITT RG ROMAIN DR SCOBIE N SHAW RL TUMEWU P WATT AJ
Citation: Rjm. Gardner et al., MOSAICISM WITH A NORMAL-CELL LINE AND AN AUTOSOMAL STRUCTURAL REARRANGEMENT, Journal of Medical Genetics, 31(2), 1994, pp. 108-114
PROGRESSIVE OSSEOUS HETEROPLASIA - A DISTINCT DEVELOPMENTAL DISORDER OF HETEROTOPIC OSSIFICATION - 2 NEW CASE-REPORTS AND FOLLOW-UP OF 3 PREVIOUSLY REPORTED CASES
Authors: KAPLAN FS CRAVER R MACEWEN GD GANNON FH FINKEL G HAHN G TABAS J GARDNER RJM ZASLOFF MA
Citation: Fs. Kaplan et al., PROGRESSIVE OSSEOUS HETEROPLASIA - A DISTINCT DEVELOPMENTAL DISORDER OF HETEROTOPIC OSSIFICATION - 2 NEW CASE-REPORTS AND FOLLOW-UP OF 3 PREVIOUSLY REPORTED CASES, Journal of bone and joint surgery. American volume, 76A(3), 1994, pp. 425-436
MAPPING OF THE TUBEROUS SCLEROSIS AND GENETIC-MARKER LOCI TO CHROMOSOME-9Q
Authors: PERICAKVANCE MA KANDT RS LENNON F GARDNER RJM REEDERS S ROSES AD GILBERT JR
Citation: Ma. Pericakvance et al., MAPPING OF THE TUBEROUS SCLEROSIS AND GENETIC-MARKER LOCI TO CHROMOSOME-9Q, Cytogenetics and cell genetics, 64(2), 1993, pp. 117-118
LINKAGE AND CROSSOVER ANALYSIS IN TUBEROUS SCLEROSIS (TSC)
Authors: GILBERT JR KANDT RS LENNON F GARDNER RJM ROSES AD PERICAKVANCE MA
Citation: Jr. Gilbert et al., LINKAGE AND CROSSOVER ANALYSIS IN TUBEROUS SCLEROSIS (TSC), American journal of human genetics, 53(3), 1993, pp. 1004-1004
Risultati: 1-21 |