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Results: 1-10 |
Results: 10
MUTATION AT THE PHENYLALANINE-HYDROXYLASE GENE (PAH) AND ITS USE TO DOCUMENT POPULATION GENETIC-VARIATION - THE QUEBEC EXPERIENCE
Authors: CARTER KC BYCK S WATERS PJ RICHARDS B NOWACKI PM LAFRAMBOISE R LAMBERT M TREACY E SCRIVER CR
Citation: Kc. Carter et al., MUTATION AT THE PHENYLALANINE-HYDROXYLASE GENE (PAH) AND ITS USE TO DOCUMENT POPULATION GENETIC-VARIATION - THE QUEBEC EXPERIENCE, European journal of human genetics, 6(1), 1998, pp. 61-70
OUTCOME OF PATIENTS WITH LOW-MODERATE METHYLMALONIC ACIDURIA IN QUEBEC
Authors: SNIDERMAN LC LAMBERT M GIGUERE R ROSENBLATT DS AURAYBLAIS C LEMIEUX B SCRIVER CR LAFRAMBOISE R TREACY E
Citation: Lc. Sniderman et al., OUTCOME OF PATIENTS WITH LOW-MODERATE METHYLMALONIC ACIDURIA IN QUEBEC, American journal of human genetics, 61(4), 1997, pp. 1522-1522
ANALYSIS OF THE [C.470G-]A-C.471A-]C] (R157N) MUTATION IN HUMAN PHENYLALANINE-HYDROXYLASE BY IN-VITRO PROTEIN EXPRESSION IN 3 SYSTEMS - CORRELATION WITH IN-VIVO PHENYLALANINE OXIDATION AND PHENYLKETONURIA PHENOTYPE
Authors: WATERS PJ HEWSON AS PARNIAK MA CARTER K KAYAALP E LAFRAMBOISE R TREACY EP SCRIVER CR
Citation: Pj. Waters et al., ANALYSIS OF THE [C.470G-]A-C.471A-]C] (R157N) MUTATION IN HUMAN PHENYLALANINE-HYDROXYLASE BY IN-VITRO PROTEIN EXPRESSION IN 3 SYSTEMS - CORRELATION WITH IN-VIVO PHENYLALANINE OXIDATION AND PHENYLKETONURIA PHENOTYPE, American journal of human genetics, 61(4), 1997, pp. 1532-1532
USE OF AMNIOTIC-FLUID AIMING ACIDS IN PRENATAL TESTING FOR ARGININOSUCCINIC ACIDURIA AND CITRULLINEMIA
Authors: MANDELL R PACKMAN S LAFRAMBOISE R GOLBUS MS SCHMIDT K WORKMAN L SAUDUBRAY JM SHIH VE
Citation: R. Mandell et al., USE OF AMNIOTIC-FLUID AIMING ACIDS IN PRENATAL TESTING FOR ARGININOSUCCINIC ACIDURIA AND CITRULLINEMIA, Prenatal diagnosis, 16(5), 1996, pp. 419-424
NADH COENZYME-Q REDUCTASE (COMPLEX-I) DEFICIENCY - HETEROGENEITY IN PHENOTYPE AND BIOCHEMICAL FINDINGS
Authors: PITKANEN S FEIGENBAUM A LAFRAMBOISE R ROBINSON BH
Citation: S. Pitkanen et al., NADH COENZYME-Q REDUCTASE (COMPLEX-I) DEFICIENCY - HETEROGENEITY IN PHENOTYPE AND BIOCHEMICAL FINDINGS, Journal of inherited metabolic disease, 19(5), 1996, pp. 675-686
2 NOVEL MUTATIONS INVOLVED IN HEREDITARY TYROSINEMIA TYPE-I
Authors: STLOUIS M POUDRIER J PHANEUF D LECLERC B LAFRAMBOISE R TANGUAY RM
Citation: M. Stlouis et al., 2 NOVEL MUTATIONS INVOLVED IN HEREDITARY TYROSINEMIA TYPE-I, Human molecular genetics, 4(2), 1995, pp. 319-320
FEMALE GERM-LINE MOSAICISM AS THE ORIGIN OF A UNIQUE IL-2 RECEPTOR GAMMA-CHAIN MUTATION CAUSING X-LINKED SEVERE COMBINED IMMUNODEFICIENCY
Authors: PUCK JM PEPPER AE BEDARD PM LAFRAMBOISE R
Citation: Jm. Puck et al., FEMALE GERM-LINE MOSAICISM AS THE ORIGIN OF A UNIQUE IL-2 RECEPTOR GAMMA-CHAIN MUTATION CAUSING X-LINKED SEVERE COMBINED IMMUNODEFICIENCY, The Journal of clinical investigation, 95(2), 1995, pp. 895-899
MUTATION PROFILES OF PHENYLKETONURIA IN QUEBEC POPULATIONS - EVIDENCEOF STRATIFICATION AND NOVEL MUTATIONS
Authors: ROZEN R MASCISCH A LAMBERT M LAFRAMBOISE R SCRIVER CR
Citation: R. Rozen et al., MUTATION PROFILES OF PHENYLKETONURIA IN QUEBEC POPULATIONS - EVIDENCEOF STRATIFICATION AND NOVEL MUTATIONS, American journal of human genetics, 55(2), 1994, pp. 321-326
HEREDITARY NONPOLYPOSIS COLON-CANCER - ANALYSIS OF LINKAGE TO 2P15-16PLACES THE COCA1 LOCUS TELOMERIC TO D2S123 AND REVEALS GENETIC-HETEROGENEITY IN 7 CANADIAN FAMILIES
Authors: GREEN RC NAROD SA MORASSE J YOUNG TL COX J FITZGERALD GWN TONIN P GINSBURG O MILLER S JOTHY S POITRAS P LAFRAMBOISE R ROUTHIER G PLANTE M MORISSETTE J WEISSENBACH J KHANDJIAN EW ROUSSEAU F
Citation: Rc. Green et al., HEREDITARY NONPOLYPOSIS COLON-CANCER - ANALYSIS OF LINKAGE TO 2P15-16PLACES THE COCA1 LOCUS TELOMERIC TO D2S123 AND REVEALS GENETIC-HETEROGENEITY IN 7 CANADIAN FAMILIES, American journal of human genetics, 54(6), 1994, pp. 1067-1077
A BIOCHEMICALLY DISTINCT FORM OF CYTOCHROME-OXIDASE (COX) DEFICIENCY IN THE SAGUENAY-LAC-SAINT-JEAN REGION OF QUEBEC
Authors: MERANTE F PETROVABENEDICT R MACKAY N MITCHELL G LAMBERT M MORIN C DEBRAEKELEER M LAFRAMBOISE R GAGNE R ROBINSON BH
Citation: F. Merante et al., A BIOCHEMICALLY DISTINCT FORM OF CYTOCHROME-OXIDASE (COX) DEFICIENCY IN THE SAGUENAY-LAC-SAINT-JEAN REGION OF QUEBEC, American journal of human genetics, 53(2), 1993, pp. 481-487
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