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Results: 1-25 | 26-28
Results: 1-25/28
CFTR MUTATIONS IN TURKISH CYSTIC-FIBROSIS PATIENTS
Authors: KREBSOVA A VERLINGUE C DENAMUR E PASCAUD O MACEK M OZCELIK U KIPER N ERDEM H YILMAZ E OZGUC M FEREC C
Citation: A. Krebsova et al., CFTR MUTATIONS IN TURKISH CYSTIC-FIBROSIS PATIENTS, European journal of human genetics, 6, 1998, pp. 4208-4208
ABSENCE OF MUTATIONS IN THE INTERSPECIES CONSERVED REGIONS OF THE CFTR PROMOTER REGION IN CYSTIC-FIBROSIS (CF) AND CF RELATED PATIENTS
Authors: VERLINGUE C VUILLAUMIER S MERCIER B LEGAC G ELION J FEREC C DENAMUR E
Citation: C. Verlingue et al., ABSENCE OF MUTATIONS IN THE INTERSPECIES CONSERVED REGIONS OF THE CFTR PROMOTER REGION IN CYSTIC-FIBROSIS (CF) AND CF RELATED PATIENTS, Journal of Medical Genetics, 35(2), 1998, pp. 137-140
COMPLETE IDENTIFICATION OF CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR MUTATIONS IN THE CF POPULATION OF SAGUENAY LAC-SAINT-JEAN (QUEBEC, CANADA)
Authors: DEBRAEKELEER M MARI C VERLINGUE C ALLARD C LEBLANC JP SIMARD F AUBIN G FEREC C
Citation: M. Debraekeleer et al., COMPLETE IDENTIFICATION OF CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR MUTATIONS IN THE CF POPULATION OF SAGUENAY LAC-SAINT-JEAN (QUEBEC, CANADA), Clinical genetics, 53(1), 1998, pp. 44-46
IDENTIFICATION OF 4 NOVEL MUTATIONS IN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE - E664X, 2113DELA, 306DELTAGA AND DELTA-M1140
Authors: CLAVEL C PENNAFORTE F PIGEON F VERLINGUE C BIREMBAUT P FEREC C
Citation: C. Clavel et al., IDENTIFICATION OF 4 NOVEL MUTATIONS IN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE - E664X, 2113DELA, 306DELTAGA AND DELTA-M1140, Human mutation, 9(4), 1997, pp. 368-369
CLINICAL-FEATURES OF CYSTIC-FIBROSIS PATIENTS WITH RARE GENOTYPES IN SAGUENAY LAC-SAINT-JEAN (QUEBEC, CANADA)
Authors: DEBRAEKELEER M MARI C VERLINGUE C ALLARD C LEBLANC JP SIMARD F AUBIN G FEREC C
Citation: M. Debraekeleer et al., CLINICAL-FEATURES OF CYSTIC-FIBROSIS PATIENTS WITH RARE GENOTYPES IN SAGUENAY LAC-SAINT-JEAN (QUEBEC, CANADA), Annales de genetique, 40(4), 1997, pp. 205-208
DISTRIBUTION OF CFTR MUTATIONS IN CYSTIC-FIBROSIS PATIENTS OF TUNISIAN ORIGIN - IDENTIFICATION OF 2 NOVEL MUTATIONS
Authors: MESSAOUD T VERLINGUE C DENAMUR E PASCAUD O QUERE I FATTOUM S ELION J FEREC C
Citation: T. Messaoud et al., DISTRIBUTION OF CFTR MUTATIONS IN CYSTIC-FIBROSIS PATIENTS OF TUNISIAN ORIGIN - IDENTIFICATION OF 2 NOVEL MUTATIONS, European journal of human genetics, 4(1), 1996, pp. 20-24
MOLECULAR-BASIS OF CONGENITAL BILATERAL A BSENCE OF THE VAS-DEFERENS
Authors: FEREC C VERLINGUE C MERCIER B
Citation: C. Ferec et al., MOLECULAR-BASIS OF CONGENITAL BILATERAL A BSENCE OF THE VAS-DEFERENS, MS. Medecine sciences, 12(4), 1996, pp. 485-490
LINKAGE DISEQUILIBRIUM BETWEEN THE 4 MOST COMMON CYSTIC-FIBROSIS MUTATIONS AND MICROSATELLITE HAPLOTYPES IN THE CELTIC POPULATION OF BRITTANY
Authors: DEBRAEKELEER M CHAVENTRE A BERTORELLE G VERLINGUE C RAGUENES O MERCIER B FEREC C
Citation: M. Debraekeleer et al., LINKAGE DISEQUILIBRIUM BETWEEN THE 4 MOST COMMON CYSTIC-FIBROSIS MUTATIONS AND MICROSATELLITE HAPLOTYPES IN THE CELTIC POPULATION OF BRITTANY, Human genetics, 98(2), 1996, pp. 223-227
COMPLETE SCREENING OF MUTATIONS IN THE CODING SEQUENCE OF THE CFTR GENE IN A SAMPLE OF CF PATIENTS FROM RUSSIA - IDENTIFICATION OF 3 NOVEL ALLELES
Authors: VERLINGUE C KAPRANOV NI MERCIER B GINTER EK PETROVA NV AUDREZET MP FEREC C
Citation: C. Verlingue et al., COMPLETE SCREENING OF MUTATIONS IN THE CODING SEQUENCE OF THE CFTR GENE IN A SAMPLE OF CF PATIENTS FROM RUSSIA - IDENTIFICATION OF 3 NOVEL ALLELES, Human mutation, 5(3), 1995, pp. 205-209
IDENTIFICATION OF 6 NOVEL CFTR MUTATIONS IN A SAMPLE OF ITALIAN CYSTIC-FIBROSIS PATIENTS
Authors: FEREC C NOVELLI G VERLINGUE C QUERE I DALLAPICCOLA B AUDREZET MP MERCIER B
Citation: C. Ferec et al., IDENTIFICATION OF 6 NOVEL CFTR MUTATIONS IN A SAMPLE OF ITALIAN CYSTIC-FIBROSIS PATIENTS, Molecular and cellular probes, 9(2), 1995, pp. 135-137
NEONATAL SCREENING FOR CYSTIC-FIBROSIS - RESULT OF A PILOT-STUDY USING BOTH IMMUNOREACTIVE TRYPSINOGEN AND CYSTIC-FIBROSIS GENE MUTATION ANALYSES
Authors: FEREC C VERLINGUE C PARENT P MORIN JF CODET JP RAULT G DAGORNE M LEMOIGNE A JOURNEL H ROUSSEY M LEMAREC B CATHELINE M AUDREZET MP MERCIER B
Citation: C. Ferec et al., NEONATAL SCREENING FOR CYSTIC-FIBROSIS - RESULT OF A PILOT-STUDY USING BOTH IMMUNOREACTIVE TRYPSINOGEN AND CYSTIC-FIBROSIS GENE MUTATION ANALYSES, Human genetics, 96(5), 1995, pp. 542-548
MUTATIONS IN THE CYSTIC-FIBROSIS GENE IN PATIENTS WITH CONGENITAL ABSENCE OF THE VAS-DEFERENS
Authors: CHILLON M CASALS T MERCIER B BASSAS L LISSENS W SILBER S ROMEY MC RUIZROMERO J VERLINGUE C CLAUSTRES M NUNES V FEREC C ESTIVILL X
Citation: M. Chillon et al., MUTATIONS IN THE CYSTIC-FIBROSIS GENE IN PATIENTS WITH CONGENITAL ABSENCE OF THE VAS-DEFERENS, The New England journal of medicine, 332(22), 1995, pp. 1475-1480
IMPLICATION OF THE 5T ALLELE OF INTRON-8 OF THE CFTR GENE IN CONGENITAL BILATERAL ABSENCE OF VAS-DEFERENS
Authors: MERCIER B LISSENS W VERLINGUE C BONDUELLE M QUERE I FEREC C
Citation: B. Mercier et al., IMPLICATION OF THE 5T ALLELE OF INTRON-8 OF THE CFTR GENE IN CONGENITAL BILATERAL ABSENCE OF VAS-DEFERENS, American journal of human genetics, 57(4), 1995, pp. 1270-1270
ADULTS WITH DISSEMINATED BRONCHLECTASIS AND CFTR GENE-MUTATIONS
Authors: VERLINGUE C ROGE C STERN M QUERE I MERCIER B FEREC C
Citation: C. Verlingue et al., ADULTS WITH DISSEMINATED BRONCHLECTASIS AND CFTR GENE-MUTATIONS, American journal of human genetics, 57(4), 1995, pp. 1338-1338
IS CONGENITAL BILATERAL ABSENCE OF VAS-DEFERENS A PRIMARY FORM OF CYSTIC-FIBROSIS - ANALYSES OF THE CFTR GENE IN 67 PATIENTS
Authors: MERCIER B VERLINGUE C LISSENS W SILBER SJ NOVELLI G BONDUELLE M AUDREZET MP FEREC C
Citation: B. Mercier et al., IS CONGENITAL BILATERAL ABSENCE OF VAS-DEFERENS A PRIMARY FORM OF CYSTIC-FIBROSIS - ANALYSES OF THE CFTR GENE IN 67 PATIENTS, American journal of human genetics, 56(1), 1995, pp. 272-277
IDENTIFICATION OF 2 NOVEL MUTATIONS IN THE CFTR GENE - 3007 DEL G AND3271-]A(1 G)
Authors: MERCIER B AUDREZET MP FEIGELSON J DOUCHAIN F RAGUENES O VERLINGUE C QUERE I FEREC C
Citation: B. Mercier et al., IDENTIFICATION OF 2 NOVEL MUTATIONS IN THE CFTR GENE - 3007 DEL G AND3271-]A(1 G), Human mutation, 4(3), 1994, pp. 224-226
COMPLETE DETECTION OF MUTATIONS IN CYSTIC-FIBROSIS PATIENTS OF NATIVE-AMERICAN ORIGIN
Authors: MERCIER B RAGUENES O ESTIVILL X MORRAL N KAPLAN GC MCCLURE M GREBE TA KESSLER D PIGNATTI PF MARIGO C BOMBIERI C AUDREZET MP VERLINGUE C FEREC C
Citation: B. Mercier et al., COMPLETE DETECTION OF MUTATIONS IN CYSTIC-FIBROSIS PATIENTS OF NATIVE-AMERICAN ORIGIN, Human genetics, 94(6), 1994, pp. 629-632
IDENTIFICATION OF 3 NOVEL MUTATIONS (457-TAT-]G, D192G, Q685X) IN THESLOVENIAN CF PATIENTS
Authors: AUDREZET MP CANKIKLAIN N MERCIER B BRACAR D VERLINGUE C FEREC C
Citation: Mp. Audrezet et al., IDENTIFICATION OF 3 NOVEL MUTATIONS (457-TAT-]G, D192G, Q685X) IN THESLOVENIAN CF PATIENTS, Human genetics, 93(6), 1994, pp. 659-662
RETROSPECTIVE STUDY OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE-MUTATIONS IN GUTHRIE CARDS FROM A LARGE COHORT OF NEONATAL SCREENING FOR CYSTIC-FIBROSIS
Authors: VERLINGUE C MERCIER B LECOQ I AUDREZET MP LAROCHE D TRAVERT G FEREC C
Citation: C. Verlingue et al., RETROSPECTIVE STUDY OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE-MUTATIONS IN GUTHRIE CARDS FROM A LARGE COHORT OF NEONATAL SCREENING FOR CYSTIC-FIBROSIS, Human genetics, 93(4), 1994, pp. 429-434
A CLUSTER OF CYSTIC-FIBROSIS MUTATIONS IN EXON 17B OF THE CFTR GENE -A SITE FOR RARE MUTATIONS
Authors: MERCIER B LISSENS W NOVELLI G KALAYDJIEVA L DEARCE M KAPRANOV N KLAIN NC ESTIVILL X PALACIO A CASHMAN S SAVOV A AUDREZET MP DALLAPICOLLA B LIEBAERS I QUERE I RAGUENES O VERLINGUE C FEREC C
Citation: B. Mercier et al., A CLUSTER OF CYSTIC-FIBROSIS MUTATIONS IN EXON 17B OF THE CFTR GENE -A SITE FOR RARE MUTATIONS, Journal of Medical Genetics, 31(9), 1994, pp. 731-734
ASSOCIATION OF 1078 DEL-T CYSTIC-FIBROSIS MUTATION WITH SEVERE DISEASE
Authors: MOULLIER P JEHANNE M AUDREZET MP MERCIER B VERLINGUE C QUERE I GUILLERMIT H RAGUENES O STORNI V RAULT G FEREC C
Citation: P. Moullier et al., ASSOCIATION OF 1078 DEL-T CYSTIC-FIBROSIS MUTATION WITH SEVERE DISEASE, Journal of Medical Genetics, 31(2), 1994, pp. 159-161
CYSTIC-FIBROSIS GENE-MUTATIONS IN THE WES T OF FRANCE - CLINICAL-APPLICATION
Authors: VERLINGUE C TRAVERT G LEROUX MG LAROCHE D AUDREZET MP MERCIER B MOISAN JP FEREC C
Citation: C. Verlingue et al., CYSTIC-FIBROSIS GENE-MUTATIONS IN THE WES T OF FRANCE - CLINICAL-APPLICATION, Annales de biologie clinique, 52(11), 1994, pp. 757-764
PRENATAL-DIAGNOSIS OF CYSTIC-FIBROSIS IN DIFFERENT EUROPEAN POPULATIONS - APPLICATION OF DENATURING GRADIENT GEL-ELECTROPHORESIS
Authors: FEREC C VERLINGUE C AUDREZET MP GUILLERMIT H QUERE I RAGUENES O MERCIER B
Citation: C. Ferec et al., PRENATAL-DIAGNOSIS OF CYSTIC-FIBROSIS IN DIFFERENT EUROPEAN POPULATIONS - APPLICATION OF DENATURING GRADIENT GEL-ELECTROPHORESIS, Fetal diagnosis and therapy, 8(5), 1993, pp. 341-350
GENOTYPE ANALYSIS OF ADULT CYSTIC-FIBROSIS PATIENTS
Authors: FEREC C VERLINGUE C GUILLERMIT H QUERE I RAGUENES O FEIGELSON J AUDREZET MP MOULLIER P MERCIER B
Citation: C. Ferec et al., GENOTYPE ANALYSIS OF ADULT CYSTIC-FIBROSIS PATIENTS, Human molecular genetics, 2(10), 1993, pp. 1557-1560
SCREENING FOR CYSTIC-FIBROSIS IN DRIED BLOOD SPOTS OF NEWBORNS
Authors: AUDREZET MP COSTES B GHANEM N FANEN P VERLINGUE C MORIN JF MERCIER B GOOSSENS M FEREC C
Citation: Mp. Audrezet et al., SCREENING FOR CYSTIC-FIBROSIS IN DRIED BLOOD SPOTS OF NEWBORNS, Molecular and cellular probes, 7(6), 1993, pp. 497-502
Risultati: 1-25 | 26-28