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Results: 1-11 |
Results: 11
MUTATIONS OF THE FLAVIN-CONTAINING MONOOXYGENASE GENE (FMO3) CAUSE TRIMETHYLAMINURIA, A DEFECT IN DETOXICATION
Authors: TREACY EP AKERMAN BR CHOW LML YOUIL R BIBEAU C LIN J BRUCE AG KNIGHT M DANKS DM CASHMAN JR FORREST SM
Citation: Ep. Treacy et al., MUTATIONS OF THE FLAVIN-CONTAINING MONOOXYGENASE GENE (FMO3) CAUSE TRIMETHYLAMINURIA, A DEFECT IN DETOXICATION, Human molecular genetics, 7(5), 1998, pp. 839-845
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
SEGREGATION OF MUTATIONS IN ARYLSULFATASE-E AND CORRELATION WITH THE CLINICAL PRESENTATION OF CHONDRODYSPLASIA PUNCTATA
Authors: SHEFFIELD LJ OSBORN AH HUTCHISON WM SILLENCE DO FORREST SM WHITE SJ DAHL HHM
Citation: Lj. Sheffield et al., SEGREGATION OF MUTATIONS IN ARYLSULFATASE-E AND CORRELATION WITH THE CLINICAL PRESENTATION OF CHONDRODYSPLASIA PUNCTATA, Journal of Medical Genetics, 35(12), 1998, pp. 1004-1008
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
X-LINKED RECESSIVE PANHYPOPITUITARISM ASSOCIATED WITH A REGIONAL DUPLICATION IN XQ25-Q26
Authors: LAGERSTROMFERMER M SUNDVALL M JOHNSEN E WARNE GL FORREST SM ZAJAC JD RICKARDS A RAVINE D LANDEGREN U PETTERSSON U
Citation: M. Lagerstromfermer et al., X-LINKED RECESSIVE PANHYPOPITUITARISM ASSOCIATED WITH A REGIONAL DUPLICATION IN XQ25-Q26, American journal of human genetics, 60(4), 1997, pp. 910-916
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
UPD-13 - NO INDICATION OF MATERNAL OR PATERNAL IMPRINTING OF GENES ONCHROMOSOME-13
Authors: SLATER H SHAW JH BANKIER A FORREST SM DAWSON G
Citation: H. Slater et al., UPD-13 - NO INDICATION OF MATERNAL OR PATERNAL IMPRINTING OF GENES ONCHROMOSOME-13, Journal of Medical Genetics, 32(6), 1995, pp. 493-493
MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME-13 IN A PHENOTYPICALLY NORMAL-CHILD
Authors: SLATER H SHAW JH DAWSON G BANKIER A FORREST SM
Citation: H. Slater et al., MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME-13 IN A PHENOTYPICALLY NORMAL-CHILD, Journal of Medical Genetics, 31(8), 1994, pp. 644-646
COMPARISON OF GENOTYPE AND INTELLECTUAL PHENOTYPE IN UNTREATED PKU PATIENTS
Authors: RAMUS SJ FORREST SM PITT DB SALEEBA JA COTTON RGH
Citation: Sj. Ramus et al., COMPARISON OF GENOTYPE AND INTELLECTUAL PHENOTYPE IN UNTREATED PKU PATIENTS, Journal of Medical Genetics, 30(5), 1993, pp. 401-405
GENOTYPE CANNOT BE USED TO ACCURATELY PREDICT THE INTELLECTUAL PHENOTYPE OF UNTREATED PHENYLKETONURIA (PKU) PATIENTS
Authors: COTTON RGH RAMUS SJ FORREST SM PITT DB
Citation: Rgh. Cotton et al., GENOTYPE CANNOT BE USED TO ACCURATELY PREDICT THE INTELLECTUAL PHENOTYPE OF UNTREATED PHENYLKETONURIA (PKU) PATIENTS, American journal of human genetics, 53(3), 1993, pp. 142-142
IDENTIFICATION OF MUTATIONS IN THE RHODOPOSIN GENE USING ILLEGITIMATETRANSCRIPTION
Authors: FORREST SM MAKRIS GS COTTON RGH YOUIL R KEMPER B SULLIVAN LJ LOUGHNAN MS
Citation: Sm. Forrest et al., IDENTIFICATION OF MUTATIONS IN THE RHODOPOSIN GENE USING ILLEGITIMATETRANSCRIPTION, American journal of human genetics, 53(3), 1993, pp. 1727-1727
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