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Results: 1-25 |
Results: 25
40 KILOBASE DELETION (CF 40 KB DEL 4-10) REMOVES EXONS 4 TO 10 OF THECYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE
Authors: CHEVALIERPORST F BONARDOT AM CHAZALETTE JP MATHIEU M BOZON D
Citation: F. Chevalierporst et al., 40 KILOBASE DELETION (CF 40 KB DEL 4-10) REMOVES EXONS 4 TO 10 OF THECYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE, Human mutation, 1998, pp. 291-294
COS CELL EXPRESSION STUDIES OF P86L, P86R, P480L AND P4480Q HUNTERS DISEASE-CAUSING MUTATIONS
Authors: MILLAT G FROISSART R CUDRY S BONNET V MAIRE I BOZON D
Citation: G. Millat et al., COS CELL EXPRESSION STUDIES OF P86L, P86R, P480L AND P4480Q HUNTERS DISEASE-CAUSING MUTATIONS, Biochimica et biophysica acta. Molecular basis of disease, 1406(2), 1998, pp. 214-218
IDENTIFICATION OF IDURONATE SULFATASE GENE ALTERATIONS IN 70 UNRELATED HUNTER PATIENTS
Authors: FROISSART R MAIRE I MILLAT G CUDRY S BIROT AM BONNET V BOUTON O BOZON D
Citation: R. Froissart et al., IDENTIFICATION OF IDURONATE SULFATASE GENE ALTERATIONS IN 70 UNRELATED HUNTER PATIENTS, Clinical genetics, 53(5), 1998, pp. 362-368
GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS
Authors: ESTIVILL X BANCELLS C RAMOS C PIAZZA A CARBONARA A MASTELLA G BONIZZATO A CASTALDI G DALCAMO E FERRARI M GASPARINI P GUANTI G LEONI GB PIGNATTI PF RONCHETTO P SEIA M TORRICELLI F GOOSSENS M CHEVALIERPORST F BOZON D SIMONBOUY B FELDMANN D ELION J KAPLAN JC FEREC C CLAUSTRES M CLAVEL C PUCHELLE E LUNARDI J MATHIEU M SCHEFFER H HALLEY DJJ VANDENOUWELAND AMW TIJMENSEN ASLN CASALS T GIMENEZ FJ RAMOS L BENEYTO M BENITEZ J PALACIO A TUMMLER B BAUER I MEITINGER T CLAASS A LINDNER M SCHRODER E STUHRMANN M CASSIMAN J CUPPENS H COCHAUX P PONCIN J MESSIAN L BARANOV VS IVASCHENKO TE BAKAY M BAL J WITT M KANAVAKIS M TZETIS M ANTONIADI T LAVINHA J PACHECO P DUARTE A LOUREIRO P KALAYDJIEVA L ANGELICHEVA D JORDANOVA A SAVOV A EIKLID K HOLMBERG L SCHAEDEL C OZGUC M GOCMEN A ERDERN H LIECHTIGALLATI S NEMETI M FEKETE G KLAASSEN T SCHWARZ M SCHWARTZ M MACEK M MACEK M KREBSOVA A VAVROVA V KEREM B AVELIOVICH D FERAK V KADASI L KAYSEROVA H GLAVAC D RAVNIKGLAVAC M EFREMOV GD CANKIKLEIN N KERE J
Citation: X. Estivill et al., GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS, Human mutation, 10(2), 1997, pp. 135-154
CHARACTERIZATION OF IDURONATE SULFATASE MUTANTS AFFECTING N-GLYCOSYLATION SITES AND THE CYSTEINE-84 RESIDUE
Authors: MILLAT G FROISSART R MAIRE I BOZON D
Citation: G. Millat et al., CHARACTERIZATION OF IDURONATE SULFATASE MUTANTS AFFECTING N-GLYCOSYLATION SITES AND THE CYSTEINE-84 RESIDUE, Biochemical journal, 326, 1997, pp. 243-247
GERMLINE AND SOMATIC MOSAICISM IN A FEMALE CARRIER OF HUNTER DISEASE
Authors: FROISSART R MAIRE I BONNET V LEVADE T BOZON D
Citation: R. Froissart et al., GERMLINE AND SOMATIC MOSAICISM IN A FEMALE CARRIER OF HUNTER DISEASE, Journal of Medical Genetics, 34(2), 1997, pp. 137-140
IDS TRANSFER FROM OVEREXPRESSING CELLS TO IDS-DEFICIENT CELLS
Authors: MILLAT G FROISSART R MAIRE I BOZON D
Citation: G. Millat et al., IDS TRANSFER FROM OVEREXPRESSING CELLS TO IDS-DEFICIENT CELLS, Experimental cell research, 230(2), 1997, pp. 362-367
IDS GENE-PSEUDOGENE EXCHANGE RESPONSIBLE FOR AN INTRAGENIC DELETION IN A HUNTER PATIENT
Authors: BIROT AM BOUTON O FROISSART R MAIRE I BOZON D
Citation: Am. Birot et al., IDS GENE-PSEUDOGENE EXCHANGE RESPONSIBLE FOR AN INTRAGENIC DELETION IN A HUNTER PATIENT, Human mutation, 8(1), 1996, pp. 44-50
A 5-MEGABASE FAMILIAL DELETION REMOVES THE IDS AND FMR-1 GENES IN A MALE HUNTER PATIENT
Authors: BIROT AM DELOBEL B GRONNIER P BONNET V MAIRE I BOZON D
Citation: Am. Birot et al., A 5-MEGABASE FAMILIAL DELETION REMOVES THE IDS AND FMR-1 GENES IN A MALE HUNTER PATIENT, Human mutation, 7(3), 1996, pp. 266-268
A NOVEL GLY290ASP MITOCHONDRIAL CYTOCHROME-B MUTATION LINKED TO A COMPLEX-III DEFICIENCY IN PROGRESSIVE EXERCISE INTOLERANCE
Authors: DUMOULIN R SAGNOL I FERLIN T BOZON D STEPIEN G MOUSSON B
Citation: R. Dumoulin et al., A NOVEL GLY290ASP MITOCHONDRIAL CYTOCHROME-B MUTATION LINKED TO A COMPLEX-III DEFICIENCY IN PROGRESSIVE EXERCISE INTOLERANCE, Molecular and cellular probes, 10(5), 1996, pp. 389-391
MUTATION ANALYSIS IN 24 FRENCH PATIENTS WITH GLYCOGEN-STORAGE-DISEASETYPE 1A
Authors: CHEVALIERPORST F BOZON D BONARDORT AM BRUNI N MITHIEUX G MATHIEU M MAIRE I
Citation: F. Chevalierporst et al., MUTATION ANALYSIS IN 24 FRENCH PATIENTS WITH GLYCOGEN-STORAGE-DISEASETYPE 1A, Journal of Medical Genetics, 33(5), 1996, pp. 358-360
A 13-BP DELETION (1952 DEL-13) IN THE METHYLMALONYL COA MUTASE GENE OF AN AFFECTED PATIENT
Authors: TOURAINE RL ROLLAND MO DIVRY P MATHIEU M GUIBAUD P BOZON D
Citation: Rl. Touraine et al., A 13-BP DELETION (1952 DEL-13) IN THE METHYLMALONYL COA MUTASE GENE OF AN AFFECTED PATIENT, Human mutation, 5(4), 1995, pp. 354-356
NO EVIDENCE FOR SEGREGATION DISTORTION OF CYSTIC-FIBROSIS ALLELES AMONG SIBS OF CYSTIC-FIBROSIS PATIENTS
Authors: DEVOTO M ROMEO G TENKATE LP CHEVALIER F BOZON D ESTIVILL X CASALS T ABELIOVICH D LERER I PADOAN R SEIA M HILL A LIECHTIGALLATI S KRAMER R BEARDS F DEAR S DALLAPICCOLA B SANGIUOLO F MACEK M MACEK M MCMAHON R CONNARTY M HARVEY JF CLAUSTRES M DESGEORGES M DEVRIES R SCHEFFER H CANKIKLAIN N AUDREZET MP BIENVENU T CHOMEL JC DZIADEK V TUMMLER B SCHWARZ M HAWORTH A BENITEZ J FERNANDEZ E MAZURCZAK T BAL J CREMONESI L RONCHETTO P CASHMAN SM FEREC C CUPPENS H BAUER I ANGELICHEVA D WAGNER K PACHECO P BONIZZATO A WITT M MCMAHON CJ RAVNIKGLAVAC M REIS A STUHRMANN M GARNERONE S CURTIS A GRUNING G KANAVAKIS E KLAASSEN T GRADE T
Citation: M. Devoto et al., NO EVIDENCE FOR SEGREGATION DISTORTION OF CYSTIC-FIBROSIS ALLELES AMONG SIBS OF CYSTIC-FIBROSIS PATIENTS, European journal of human genetics, 3(5), 1995, pp. 324-325
A DELETION POLYMORPHISM IN INTRON-4 OF THE IDUA GENE
Authors: CUDRY S BOUTON O MAIRE I BOZON D
Citation: S. Cudry et al., A DELETION POLYMORPHISM IN INTRON-4 OF THE IDUA GENE, Molecular and cellular probes, 9(2), 1995, pp. 143-143
CAPILLARY ELECTROPHORETIC ANALYSIS OF DNA RESTRICTION FRAGMENTS AND PCR PRODUCTS FOR POLYMORPHISM AND MUTATION STUDIES IN CYSTIC-FIBROSIS AND GAUCHERS-DISEASE
Authors: BORY C CHANTIN C BOZON D
Citation: C. Bory et al., CAPILLARY ELECTROPHORETIC ANALYSIS OF DNA RESTRICTION FRAGMENTS AND PCR PRODUCTS FOR POLYMORPHISM AND MUTATION STUDIES IN CYSTIC-FIBROSIS AND GAUCHERS-DISEASE, Journal of pharmaceutical and biomedical analysis, 13(4-5), 1995, pp. 511-514
PROCESSING OF IDURONATE 2-SULFATASE IN HUMAN FIBROBLASTS
Authors: FROISSART R MILLAT G MATHIEU M BOZON D MAIRE I
Citation: R. Froissart et al., PROCESSING OF IDURONATE 2-SULFATASE IN HUMAN FIBROBLASTS, Biochemical journal, 309, 1995, pp. 425-430
MOLECULAR ABNORMALITIES IN TYPE-I PRIMARY HYPEROXALURIA
Authors: COCHAT P BOZON D ROLLAND MO DUMONTEL C LEPOUTRE I SCHELL M DIVRY P
Citation: P. Cochat et al., MOLECULAR ABNORMALITIES IN TYPE-I PRIMARY HYPEROXALURIA, Annales de pediatrie, 42(10), 1995, pp. 596-602
A NEW MUTATION, 3905INST, IS PROMINENT AMONG SWISS CF CHROMOSOMES
Authors: HERGERSBERG M BALAKRISHNAN J BETTECKEN T BOZON D BRAGGER C BURGER R EINSCHENK I MORRIS M SCHORDERET D THONNEY F MOSER FH MALIK N
Citation: M. Hergersberg et al., A NEW MUTATION, 3905INST, IS PROMINENT AMONG SWISS CF CHROMOSOMES, American journal of human genetics, 57(4), 1995, pp. 1918-1918
IDENTIFICATION OF 4 NEW MUTATIONS IN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE - I148T, L1077P, Y1092X, 2183AA-]G
Authors: BOZON D ZIELENSKI J RININSLAND F TSUI LC
Citation: D. Bozon et al., IDENTIFICATION OF 4 NEW MUTATIONS IN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE - I148T, L1077P, Y1092X, 2183AA-]G, Human mutation, 3(3), 1994, pp. 330-332
MOLECULAR PATHOLOGY OF PRIMARY HYPEROXALU RIA TYPE-1
Authors: COCHAT P ROLLAND MO BOZON D DUMONTEL C DIVRY P
Citation: P. Cochat et al., MOLECULAR PATHOLOGY OF PRIMARY HYPEROXALU RIA TYPE-1, Nephrologie, 15(6), 1994, pp. 375-380
MUTATION ANALYSIS IN 600 FRENCH CYSTIC-FIBROSIS PATIENTS
Authors: CHEVALIERPORST F BONARDOT AM GILLY R CHAZALETTE JP MATHIEU M BOZON D
Citation: F. Chevalierporst et al., MUTATION ANALYSIS IN 600 FRENCH CYSTIC-FIBROSIS PATIENTS, Journal of Medical Genetics, 31(7), 1994, pp. 541-544
HUNTER SYNDROME - GENE DELETIONS AND REARRANGEMENTS
Authors: FROISART R BLOND JL MAIRE I GUIBAUD P HOPWOOD JJ MATHIEU M BOZON D
Citation: R. Froisart et al., HUNTER SYNDROME - GENE DELETIONS AND REARRANGEMENTS, Human mutation, 2(2), 1993, pp. 138-140
IDENTIFICATION OF 3 RARE FRAMESHIFT MUTATIONS IN EXON 13 OF THE CYSTIC-FIBROSIS GENE - 1918DELGC, 2118DEL4 AND 2372DEL8
Authors: CHEVALIERPORST F MATHIEU M BOZON D
Citation: F. Chevalierporst et al., IDENTIFICATION OF 3 RARE FRAMESHIFT MUTATIONS IN EXON 13 OF THE CYSTIC-FIBROSIS GENE - 1918DELGC, 2118DEL4 AND 2372DEL8, Human molecular genetics, 2(7), 1993, pp. 1071-1072
ANALYSIS OF CFTR TRANSCRIPTS IN NASAL EPITHELIAL-CELLS AND LYMPHOBLASTS OF A CYSTIC-FIBROSIS PATIENT WITH 621-]T AND 711+1G-]T MUTATIONS(1G)
Authors: ZIELENSKI J BOZON D MARKIEWICZ D AUBIN G SIMARD F ROMMENS JM TSUI LC
Citation: J. Zielenski et al., ANALYSIS OF CFTR TRANSCRIPTS IN NASAL EPITHELIAL-CELLS AND LYMPHOBLASTS OF A CYSTIC-FIBROSIS PATIENT WITH 621-]T AND 711+1G-]T MUTATIONS(1G), Human molecular genetics, 2(6), 1993, pp. 683-687
CHARACTERIZATION OF ABERRANTLY SPLICED TRANSCRIPTS IN CYSTIC-FIBROSISPATIENTS CARRYING 621-]T, 711+1G-]T, AND 1898+5G-]T MUTATIONS(1G)
Authors: ZIELENSKI J MARKIEWICZ D BOZON D YANGFENG T HUANG FY LIN SP TSUI LC
Citation: J. Zielenski et al., CHARACTERIZATION OF ABERRANTLY SPLICED TRANSCRIPTS IN CYSTIC-FIBROSISPATIENTS CARRYING 621-]T, 711+1G-]T, AND 1898+5G-]T MUTATIONS(1G), American journal of human genetics, 53(3), 1993, pp. 1262-1262
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