AAAAAA

   
Results: 1-22 |
Results: 22
NOVEL INTRAGENIC DELETIONS AND POINT MUTATIONS OF THE ORNITHINE TRANSCARBAMYLASE GENE IN CONGENITAL HYPERAMMONEMIA
Authors: CALVAS P SEGUES B ROZET JM RABIER D BONNEFOND JP MUNNICH A
Citation: P. Calvas et al., NOVEL INTRAGENIC DELETIONS AND POINT MUTATIONS OF THE ORNITHINE TRANSCARBAMYLASE GENE IN CONGENITAL HYPERAMMONEMIA, Human mutation, 1998, pp. 81-84
VALUE OF ISOLATED SONOGRAPHIC FINDINGS IN CHROMOSOMAL-ABNORMALITIES PRENATAL-DIAGNOSIS
Authors: VINCENT MC BOURROUILLOU G SARRAMON MF FOURNIE A CALVAS P
Citation: Mc. Vincent et al., VALUE OF ISOLATED SONOGRAPHIC FINDINGS IN CHROMOSOMAL-ABNORMALITIES PRENATAL-DIAGNOSIS, European journal of human genetics, 6, 1998, pp. 1072-1072
STRUCTURE AND REFINEMENT OF THE PHYSICAL MAPPING OF THE GAMMA-GLUTAMYLCYSTEINE LIGASE REGULATORY SUBUNIT (GLCLR) GENE TO CHROMOSOME 1P22.1 WITHIN THE CRITICALLY DELETED REGION OF HUMAN-MALIGNANT MESOTHELIOMA
Authors: ROZET JM GERBER S PERRAULT I CALVAS P SOUIED E CHATELIN S VIEGASPEQUIGNOT E MOLINAGOMEZ D MUNNICH A KAPLAN J
Citation: Jm. Rozet et al., STRUCTURE AND REFINEMENT OF THE PHYSICAL MAPPING OF THE GAMMA-GLUTAMYLCYSTEINE LIGASE REGULATORY SUBUNIT (GLCLR) GENE TO CHROMOSOME 1P22.1 WITHIN THE CRITICALLY DELETED REGION OF HUMAN-MALIGNANT MESOTHELIOMA, Cytogenetics and cell genetics, 82(1-2), 1998, pp. 91-94
ATYPICAL MANIFESTATIONS IN A FAMILIAL TYP E-I WAARDENBURG-SYNDROME
Authors: SANS B CALVAS P BAZEX J
Citation: B. Sans et al., ATYPICAL MANIFESTATIONS IN A FAMILIAL TYP E-I WAARDENBURG-SYNDROME, Annales de dermatologie et de venereologie, 125(1), 1998, pp. 37-41
MITOTIC CHROMOSOMAL-ANOMALIES AMONG INFERTILE MEN
Authors: BOURROUILLOU G CALVAS P BUJAN L MIEUSSET R MANSAT A PONTONNIER F
Citation: G. Bourrouillou et al., MITOTIC CHROMOSOMAL-ANOMALIES AMONG INFERTILE MEN, Human reproduction, 12(10), 1997, pp. 2337-2337
TOWARDS THE GENE RESPONSIBLE FOR STARGARDTS-DISEASE AND FUNDUS FLAVIMACULATUS
Authors: GERBER S ROZET JM CALVAS P PERRAULT I SOUIED E CHATELIN S MUNNICH A KAPLAN J
Citation: S. Gerber et al., TOWARDS THE GENE RESPONSIBLE FOR STARGARDTS-DISEASE AND FUNDUS FLAVIMACULATUS, Investigative ophthalmology & visual science, 38(4), 1997, pp. 5343-5343
NEW MUTATIONS IN THE X-LINKED FORM OF CHARCOT-MARIE-TOOTH DISEASE
Authors: LATOUR P FABREGUETTE A RESSOT C BLANQUETGROSSARD F ANTOINE JC CALVAS P CHAPON F CORBILLON E OLLAGNON E STURTZ F BOUCHERAT M CHAZOT G DAUTIGNY A PHAMDINH D VANDENBERGHE A
Citation: P. Latour et al., NEW MUTATIONS IN THE X-LINKED FORM OF CHARCOT-MARIE-TOOTH DISEASE, European neurology, 37(1), 1997, pp. 38-42
RETINAL-SPECIFIC GUANYLATE-CYCLASE GENE-MUTATIONS IN LEBERS CONGENITAL AMAUROSIS
Authors: PERRAULT I ROZET JM CALVAS P GERBER S CAMUZAT A DOLLFUS H CHATELIN S SOUIED E GHAZI I LEOWSKI C BONNEMAISON M LEPASLIER D FREZAL J DUFIER JL PITTLER S MUNNICH A KAPLAN J
Citation: I. Perrault et al., RETINAL-SPECIFIC GUANYLATE-CYCLASE GENE-MUTATIONS IN LEBERS CONGENITAL AMAUROSIS, Nature genetics, 14(4), 1996, pp. 461-464
A 3-BASE PAIR IN-FRAME DELETION IN EXON-8 (DELGLU272 273) OF THE ORNITHINE TRANSCARBAMYLASE GENE IN LATE-ONSET HYPERAMMONEMIC COMA/
Authors: SEGUES B VEBER PS RABIER D CALVAS P SAUDUBRAY JM GILBERTDUSSARDIER B BONNEFONT JP MUNNICH A
Citation: B. Segues et al., A 3-BASE PAIR IN-FRAME DELETION IN EXON-8 (DELGLU272 273) OF THE ORNITHINE TRANSCARBAMYLASE GENE IN LATE-ONSET HYPERAMMONEMIC COMA/, Human mutation, 8(4), 1996, pp. 373-374
PARTIAL DUPLICATION [DUP-TCAC-(178)] AND NOVEL POINT MUTATIONS (T125M, G188R, A209V, AND H302L) OF THE ORNITHINE TRANSCARBAMYLASE GENE IN CONGENITAL HYPERAMMONEMIA
Authors: GILBERTDUSSARDIER B SEGUES B ROZET JM RABIER D CALVAS P DELUMLEY L BONNEFOND JP MUNNICH A
Citation: B. Gilbertdussardier et al., PARTIAL DUPLICATION [DUP-TCAC-(178)] AND NOVEL POINT MUTATIONS (T125M, G188R, A209V, AND H302L) OF THE ORNITHINE TRANSCARBAMYLASE GENE IN CONGENITAL HYPERAMMONEMIA, Human mutation, 8(1), 1996, pp. 74-76
STRUCTURE AND PHYSICAL MAPPING OF DR1, A TATA-BINDING PROTEIN-ASSOCIATED PHOSPHOPROTEIN GENE, TO CHROMOSOME 1P22.1 AND ITS EXCLUSION IN STARGARDT DISEASE (STGD)
Authors: ROZET JM GERBER S PERRAULT I CAMUZAT A CALVAS P VIEGASPEQUIGNOT E MOLINAGOMES D LEPASLIER D CHUMAKOV I MUNNICH A KAPLAN J
Citation: Jm. Rozet et al., STRUCTURE AND PHYSICAL MAPPING OF DR1, A TATA-BINDING PROTEIN-ASSOCIATED PHOSPHOPROTEIN GENE, TO CHROMOSOME 1P22.1 AND ITS EXCLUSION IN STARGARDT DISEASE (STGD), Genomics, 36(3), 1996, pp. 554-556
PRENATAL-DIAGNOSIS IN CONGENITAL ERYTHROPOIETIC PORPHYRIA BY METABOLIC MEASUREMENT AND DNA MUTATION ANALYSIS
Authors: GED C MOREAUGAUDRY F TAINE L HOMBRADOS I CALVAS P COLOMBIES P DEVERNEUIL H
Citation: C. Ged et al., PRENATAL-DIAGNOSIS IN CONGENITAL ERYTHROPOIETIC PORPHYRIA BY METABOLIC MEASUREMENT AND DNA MUTATION ANALYSIS, Prenatal diagnosis, 16(1), 1996, pp. 83-86
PAX6 ANALYSIS IN CONGENITAL ANIRIDIA LED TO IDENTIFY NOVEL HOMEODOMAIN MUTATIONS AND ALTERNATIVE SPLICING
Authors: CALVAS P ROZET JM GERBER S MUNNICH A KAPLAN J
Citation: P. Calvas et al., PAX6 ANALYSIS IN CONGENITAL ANIRIDIA LED TO IDENTIFY NOVEL HOMEODOMAIN MUTATIONS AND ALTERNATIVE SPLICING, Vision research, 36, 1996, pp. 3134-3134
TOWARDS THE IDENTIFICATION OF LEBERS CONGENITAL AMAUROSIS (LCA1) GENE
Authors: PERRAULT I ROZET JM CALVAS P CAMUZAT A GERBER S DOLLFUS H CHATELIN S SOUIED E GHAZI I DUFIER JL PITTLER S MUNNICH A KAPLAN J
Citation: I. Perrault et al., TOWARDS THE IDENTIFICATION OF LEBERS CONGENITAL AMAUROSIS (LCA1) GENE, Vision research, 36, 1996, pp. 3136-3136
STRUCTURAL-ANALYSIS OF THE RH-LIKE BLOOD-GROUP GENE-PRODUCTS IN NONHUMAN-PRIMATES
Authors: SALVIGNOL I CALVAS P SOCHA WW COLIN Y LEVANKIM C BAILLY P RUFFIE J CARTRON JP BLANCHER A
Citation: I. Salvignol et al., STRUCTURAL-ANALYSIS OF THE RH-LIKE BLOOD-GROUP GENE-PRODUCTS IN NONHUMAN-PRIMATES, Immunogenetics, 41(5), 1995, pp. 271-281
LENGTH POLYMORPHISM OF A MICROSATELLITE IN HUMAN AND NON HUMAN PRIMATES
Authors: CALVAS P BLANCHER A SALVIGNOL I SOCHA WW RUFFIE J
Citation: P. Calvas et al., LENGTH POLYMORPHISM OF A MICROSATELLITE IN HUMAN AND NON HUMAN PRIMATES, Comptes rendus de l'Academie des sciences. Serie 3, Sciences de la vie, 317(8), 1994, pp. 755-763
CHIMPANZEE RH-LIKE BLOOD-GROUP GENES MAP TO CHROMOSOME REGION 1P36.1-]P34.2 BY IN-SITU HYBRIDIZATION
Authors: CALVAS P BLANCHER A DEPETRIS D SALVIGNOL I CHERIFZAHAR B MATTEI MG
Citation: P. Calvas et al., CHIMPANZEE RH-LIKE BLOOD-GROUP GENES MAP TO CHROMOSOME REGION 1P36.1-]P34.2 BY IN-SITU HYBRIDIZATION, Cytogenetics and cell genetics, 65(4), 1994, pp. 247-249
APPEAL TO MITTERRAND IN BLOOD SCANDAL
Authors: ALGAZI M ANCELLEPARK R ASJO B BARIN F BARME M BARRESINOUSSI F BAYLON H BENICHOU J BENICHOU G BEZEAUD A BLANCHER A BLATTNER WA BLOT P BOURROUILLOU G BOUTTIER D BOVEN B BRUNET JB CADROY Y CAEN J CAHAN C CALVAS P CARANOBE C CARRELL RW CHANZY M CHAOUAT G CHIODI F COLOMBIES P COUTINHO A DAUSSET J DEVINCENTI I DEBRE P DENIS F DESMYTER J DEUBEL V DEVERGIE A DODIN A DORE JF DREYFUS JC DREYFUSBRISAC C DUCOS J DURAND H FENYO EM FLEURY H FOURNEL JJ FROTTIER J GAILLARD J GALANAUD P GARCON P GAZZOLO L GEORGES AJ GEORGESCOURBOT MC GIRARD M GLUCKMAN E GLUCKMAN JC GOLDBERG M GOUBAU P GUILLIN MC HERRAULT A JENNINGS M JUHANVAGUE I KANKI PJ KAZATCHKINE M KIRN A KLATZMANN D KOHEN JP KREIS H KRUH J LEMINOR L LESOURD G LIDEREAU R LORTHOLARY P LOWENSTEIN W LOYGUE J MARCOVICH H MARTY M MATHIOT C MONODBROCA P ORTH G DASILVA LP PERES G PILLOT J POLICARD C REYNES J ROZENBAUM W SCARLATTI G SCHAISON G SCHUPBACH J SIE P SMILOVICI W SOURNIA JC TARANTOLA D TAVITIAN A TEDGUI A TESTAS P TIOLLAIS P ULLMAN A WOLLMAN E WOLLMAN A
Citation: M. Algazi et al., APPEAL TO MITTERRAND IN BLOOD SCANDAL, Nature, 367(6461), 1994, pp. 312-312
MOLECULAR-GENETICS OF CHIMPANZEE RH-RELATED GENES - THEIR RELATIONSHIP WITH THE R-C-E-F BLOOD-GROUP SYSTEM, THE CHIMPANZEE COUNTERPART OF THE HUMAN RHESUS SYSTEM
Authors: SALVIGNOL I BLANCHER A CALVAS P CLAYTON J SOCHA WW COLIN Y RUFFIE J
Citation: I. Salvignol et al., MOLECULAR-GENETICS OF CHIMPANZEE RH-RELATED GENES - THEIR RELATIONSHIP WITH THE R-C-E-F BLOOD-GROUP SYSTEM, THE CHIMPANZEE COUNTERPART OF THE HUMAN RHESUS SYSTEM, Biochemical genetics, 32(5-6), 1994, pp. 201-221
FABRYS-DISEASE - HETEROZYGOUS FORM OF DIFFERENT EXPRESSION IN 2 MONOZYGOTIC TWIN SISTERS
Authors: MARGUERY MC GIORDANO F PARANT M SAMALENS G LEVADE T SALVAYRE R MARET A CALVAS P BOURROUILLOU G CANTALA P BAZEX J
Citation: Mc. Marguery et al., FABRYS-DISEASE - HETEROZYGOUS FORM OF DIFFERENT EXPRESSION IN 2 MONOZYGOTIC TWIN SISTERS, Dermatology, 187(1), 1993, pp. 9-15
RELATIONSHIP BETWEEN CHIMPANZEE RH-LIKE GENES AND THE R-C-E-F BLOOD-GROUP SYSTEM
Authors: SALVIGNOL I BLANCHER A CALVAS P SOCHA WW COLIN Y CARTRON JP RUFFIE J
Citation: I. Salvignol et al., RELATIONSHIP BETWEEN CHIMPANZEE RH-LIKE GENES AND THE R-C-E-F BLOOD-GROUP SYSTEM, Journal of medical primatology, 22(1), 1993, pp. 19-28
STUDY OF THE COUNTERPARTS OF HUMAN RHESUS ANTIGENS IN NONHUMAN-PRIMATES
Authors: BLANCHER A CALVAS P RUFFIE J
Citation: A. Blancher et al., STUDY OF THE COUNTERPARTS OF HUMAN RHESUS ANTIGENS IN NONHUMAN-PRIMATES, Comptes rendus des seances de la Societe de biologie et de ses filiales, 186(6), 1992, pp. 682-695
Risultati: 1-22 |