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Results: 1-25 | 26-28
Results: 1-25/28
PATERNAL ORIGIN OF A DE-NOVO NOVEL CFTR MUTATION (L1065R) CAUSING CYSTIC-FIBROSIS
Authors: CASALS T RAMOS MD GIMENEZ J NADAL M NUNES V ESTIVILL X
Citation: T. Casals et al., PATERNAL ORIGIN OF A DE-NOVO NOVEL CFTR MUTATION (L1065R) CAUSING CYSTIC-FIBROSIS, Human mutation, 1998, pp. 99-102
TESTICULAR CFTR SPLICE VARIANTS IN PATIENTS WITH CONGENITAL ABSENCE OF THE VAS-DEFERENS
Authors: LARRIBA S BASSAS L GIMENEZ J RAMOS MD SEGURA A NUNES V ESTIVILL X CASALS T
Citation: S. Larriba et al., TESTICULAR CFTR SPLICE VARIANTS IN PATIENTS WITH CONGENITAL ABSENCE OF THE VAS-DEFERENS, Human molecular genetics (Print), 7(11), 1998, pp. 1739-1744
MISSENSE MUTATION R1066C IN THE 2ND TRANSMEMBRANE DOMAIN OF CFTR CAUSES A SEVERE CYSTIC-FIBROSIS PHENOTYPE - STUDY OF 19 HETEROZYGOUS AND 2HOMOZYGOUS PATIENTS
Authors: CASALS T PACHECO P BARRETO C GIMENEZ J RAMOS MD PEREIRA S PINHEIRO JA COBOS N CURVELO A VAZQUEZ C ROCHA H SECULI JL PEREZ E DAPENA J CARRILHO E DUARTE A PALACIO AM NUNES V LAVINHA J ESTIVILL X
Citation: T. Casals et al., MISSENSE MUTATION R1066C IN THE 2ND TRANSMEMBRANE DOMAIN OF CFTR CAUSES A SEVERE CYSTIC-FIBROSIS PHENOTYPE - STUDY OF 19 HETEROZYGOUS AND 2HOMOZYGOUS PATIENTS, Human mutation, 10(5), 1997, pp. 387-392
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
SSCP ANALYSIS - A BLIND SENSITIVITY TRIAL
Authors: JORDANOVA A KALAYDJIEVA L SAVOV A CLAUSTRES M SCHWARZ M ESTIVILL X ANGELICHEVA D HAWORTH A CASALS T KREMENSKY I
Citation: A. Jordanova et al., SSCP ANALYSIS - A BLIND SENSITIVITY TRIAL, Human mutation, 10(1), 1997, pp. 65-70
HIGH HETEROGENEITY FOR CYSTIC-FIBROSIS IN SPANISH FAMILIES - 75 MUTATIONS ACCOUNT FOR 90-PERCENT OF CHROMOSOMES
Authors: CASALS T RAMOS MD GIMENEZ J LARRIBA S NUNES V ESTIVILL X
Citation: T. Casals et al., HIGH HETEROGENEITY FOR CYSTIC-FIBROSIS IN SPANISH FAMILIES - 75 MUTATIONS ACCOUNT FOR 90-PERCENT OF CHROMOSOMES, Human genetics, 101(3), 1997, pp. 365-370
SEARCH FOR A CF MODIFIER GENE LOCUS ON HUMAN-CHROMOSOME-19
Authors: ZIELENSKI J COREY M ROZMAHEL R MARKIEWICZ D CASALS T MERCIER B CUTTING GR MACEK M PALACIO A FEREC C ESTIVILL X DURIE P TSUI LC
Citation: J. Zielenski et al., SEARCH FOR A CF MODIFIER GENE LOCUS ON HUMAN-CHROMOSOME-19, American journal of human genetics, 61(4), 1997, pp. 1766-1766
PRENATAL-DIAGNOSIS OF CYSTIC-FIBROSIS IN A HIGHLY HETEROGENEOUS POPULATION
Authors: CASALS T GIMENEZ J RAMOS MD NUNES V ESTIVILL X
Citation: T. Casals et al., PRENATAL-DIAGNOSIS OF CYSTIC-FIBROSIS IN A HIGHLY HETEROGENEOUS POPULATION, Prenatal diagnosis, 16(3), 1996, pp. 215-222
13 CYSTIC-FIBROSIS PATIENTS, 12 COMPOUND HETEROZYGOUS AND ONE HOMOZYGOUS FOR THE MISSENSE MUTATION G85E - A PANCREATIC SUFFICIENCY INSUFFICIENCY MUTATION WITH VARIABLE CLINICAL PRESENTATION
Authors: VAZQUEZ C ANTINOLO G CASALS T DAPENA J ELORZ J SECULI JL SIRVENT J CABANAS R SOLER C ESTIVILL X
Citation: C. Vazquez et al., 13 CYSTIC-FIBROSIS PATIENTS, 12 COMPOUND HETEROZYGOUS AND ONE HOMOZYGOUS FOR THE MISSENSE MUTATION G85E - A PANCREATIC SUFFICIENCY INSUFFICIENCY MUTATION WITH VARIABLE CLINICAL PRESENTATION, Journal of Medical Genetics, 33(10), 1996, pp. 820-822
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
CLINICAL CHARACTERISTICS OF 16 CYSTIC-FIBROSIS PATIENTS WITH THE MISSENSE MUTATION R334W, A PANCREATIC INSUFFICIENCY MUTATION WITH VARIABLEAGE-OF-ONSET AND INTERFAMILIAL CLINICAL DIFFERENCES
Authors: ESTIVILL X ORTIGOSA L PEREZFRIAS J DAPENA J FERRER J PENA J PENA L LLEVADOT R GIMENEZ J NUNES V COBOS N VAZQUEZ C CASALS T
Citation: X. Estivill et al., CLINICAL CHARACTERISTICS OF 16 CYSTIC-FIBROSIS PATIENTS WITH THE MISSENSE MUTATION R334W, A PANCREATIC INSUFFICIENCY MUTATION WITH VARIABLEAGE-OF-ONSET AND INTERFAMILIAL CLINICAL DIFFERENCES, Human genetics, 95(3), 1995, pp. 331-336
EXTENSIVE ANALYSIS OF 40 INFERTILE PATIENTS WITH CONGENITAL ABSENCE OF THE VAS-DEFERENS - IN 50-PERCENT OF CASES ONLY ONE CFTR ALLELE COULDBE DETECTED
Authors: CASALS T BASSAS L RUIZROMERO J CHILLON M GIMENEZ J RAMOS MD TAPIA G NARVAEZ H NUNES V ESTIVILL X
Citation: T. Casals et al., EXTENSIVE ANALYSIS OF 40 INFERTILE PATIENTS WITH CONGENITAL ABSENCE OF THE VAS-DEFERENS - IN 50-PERCENT OF CASES ONLY ONE CFTR ALLELE COULDBE DETECTED, Human genetics, 95(2), 1995, pp. 205-211
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
A NOVEL DONOR SPLICE-SITE IN INTRON-11 OF THE CFTR GENE, CREATED BY MUTATION 1811-]G, PRODUCES A NEW EXON - HIGH-FREQUENCY IN SPANISH CYSTIC-FIBROSIS CHROMOSOMES AND ASSOCIATION WITH SEVERE PHENOTYPE(1.6KBA)
Authors: CHILLON M DORK T CASALS T GIMENEZ J FONKNECHTEN N WILL K RAMOS D NUNES V ESTIVILL X
Citation: M. Chillon et al., A NOVEL DONOR SPLICE-SITE IN INTRON-11 OF THE CFTR GENE, CREATED BY MUTATION 1811-]G, PRODUCES A NEW EXON - HIGH-FREQUENCY IN SPANISH CYSTIC-FIBROSIS CHROMOSOMES AND ASSOCIATION WITH SEVERE PHENOTYPE(1.6KBA), American journal of human genetics, 56(3), 1995, pp. 623-629
THE ORIGIN OF THE MAJOR CYSTIC-FIBROSIS MUTATION (DELTA-F508) IN EUROPEAN POPULATIONS
Authors: MORRAL N BERTRANPETIT J ESTIVILL X NUNES V CASALS T GIMENEZ J REIS A VARONMATEEVA R MACEK M KALAYDJIEVA L ANGELICHEVA D DANCHEVA R ROMEO G RUSSO MP GARNERONE S RESTAGNO G FERRARI M MAGNANI C CLAUSTRES M DESGEORGES M SCHWARTZ M SCHWARZ M DALLAPICCOLA B NOVELLI G FEREC C DEARCE M NEMETI M KERE T ANVRET M DAHL N KADASI L
Citation: N. Morral et al., THE ORIGIN OF THE MAJOR CYSTIC-FIBROSIS MUTATION (DELTA-F508) IN EUROPEAN POPULATIONS, Nature genetics, 7(2), 1994, pp. 169-175
ANALYSIS OF THE CFTR GENE IN THE SPANISH POPULATION - SSCP-SCREENING FOR 60 KNOWN MUTATIONS AND IDENTIFICATION OF 4 NEW MUTATIONS (Q30X, A120T, 1812-1 G-]A, AND 3667DEL4)
Authors: CHILLON M CASALS T GIMENEZ J NUNES V ESTIVILL X
Citation: M. Chillon et al., ANALYSIS OF THE CFTR GENE IN THE SPANISH POPULATION - SSCP-SCREENING FOR 60 KNOWN MUTATIONS AND IDENTIFICATION OF 4 NEW MUTATIONS (Q30X, A120T, 1812-1 G-]A, AND 3667DEL4), Human mutation, 3(3), 1994, pp. 223-230
ANALYSIS OF THE CFTR GENE CONFIRMS THE HIGH HETEROGENEITY OF THE SPANISH POPULATION - 43 MUTATIONS ACCOUNT FOR ONLY 78-PERCENT OF CF CHROMOSOMES
Authors: CHILLON M CASALS T GIMENEZ J RAMOS MD PALACIO A MORRAL N ESTIVILL X NUNES V
Citation: M. Chillon et al., ANALYSIS OF THE CFTR GENE CONFIRMS THE HIGH HETEROGENEITY OF THE SPANISH POPULATION - 43 MUTATIONS ACCOUNT FOR ONLY 78-PERCENT OF CF CHROMOSOMES, Human genetics, 93(4), 1994, pp. 447-451
A CYSTIC-FIBROSIS PATIENT HOMOZYGOUS FOR THE NEW FRAMESHIFT MUTATION 936DELTA - DESCRIPTION AND CLINICAL-DATA
Authors: CHILLON M CASALS T GIMENEZ J NUNES V ESTIVILL X
Citation: M. Chillon et al., A CYSTIC-FIBROSIS PATIENT HOMOZYGOUS FOR THE NEW FRAMESHIFT MUTATION 936DELTA - DESCRIPTION AND CLINICAL-DATA, Journal of Medical Genetics, 31(5), 1994, pp. 369-370
MOLECULAR AND CLINICAL ANALYSES OF CYSTIC-FIBROSIS IN THE SOUTH OF SPAIN
Authors: BORREGO S CASALS T DAPENA J FERNANDEZ E GIMENEZ J CABEZA JC SANCHEZ J ANTINOLO G
Citation: S. Borrego et al., MOLECULAR AND CLINICAL ANALYSES OF CYSTIC-FIBROSIS IN THE SOUTH OF SPAIN, Clinical genetics, 46(4), 1994, pp. 287-290
INDEPENDENT ORIGINS OF CYSTIC-FIBROSIS MUTATIONS R334W, R347P, R1162X, AND 3849-]T PROVIDE EVIDENCE OF MUTATION RECURRENCE IN THE CFTR GENE(10KBC)
Authors: MORRAL N LLEVADOT R CASALS T GASPARINI P MACEK M DORK T ESTIVILL X
Citation: N. Morral et al., INDEPENDENT ORIGINS OF CYSTIC-FIBROSIS MUTATIONS R334W, R347P, R1162X, AND 3849-]T PROVIDE EVIDENCE OF MUTATION RECURRENCE IN THE CFTR GENE(10KBC), American journal of human genetics, 55(5), 1994, pp. 890-898
HAPLOTYPE ANALYSIS TO DETERMINE THE POSITION OF A MUTATION AMONG CLOSELY LINKED DNA MARKERS (VOL 2, PG 1007, 1993)
Authors: RAMSAY M WILLIAMSON R ESTIVILL X WAINWRIGHT BJ HO MF HALFORD S KERE J SAVILAHTI E DELACHAPELLE A SCHWARTZ M SCHWARTZ M SUPER M FARNDON P HARDING C MEREDITH L ALJADER L FEREC C CLAUSTRES M CASALS T NUNES V GASPARINI P SAVOIA A PIGNATTI PF NOVELLI G GENNARELLI M DALLAPICCOLA B KALAYDJIEVA L SCAMBLER PJ
Citation: M. Ramsay et al., HAPLOTYPE ANALYSIS TO DETERMINE THE POSITION OF A MUTATION AMONG CLOSELY LINKED DNA MARKERS (VOL 2, PG 1007, 1993), Human molecular genetics, 2(9), 1993, pp. 1523-1523
IDENTIFICATION OF A 31-BP INSERTION (3860INS31) IN EXON-20 OF THE CYSTIC-FIBROSIS (CFTR) GENE
Authors: CHILLON M CASALS T NUNES V GIMENEZ J ESTIVILL X
Citation: M. Chillon et al., IDENTIFICATION OF A 31-BP INSERTION (3860INS31) IN EXON-20 OF THE CYSTIC-FIBROSIS (CFTR) GENE, Human molecular genetics, 2(8), 1993, pp. 1317-1318
HAPLOTYPE ANALYSIS TO DETERMINE THE POSITION OF A MUTATION AMONG CLOSELY LINKED DNA MARKERS
Authors: RAMSAY M WILLIAMSON R ESTIVILL X WAINWRIGHT BJ HO MF HALFORD S KERE J SAVILAHTI E DELACHAPELLE A SCHWARTZ M SCHWARTZ M SUPER M FARNDON P HARDING C MEREDITH L ALJADER L FEREC C CLAUSTRES M CASALS T NUNES V GASPARINI P SAVOIA A PIGNATTI PF NOVELLI G BENNARELLI M DALLAPICCOLA B KALAYDJIEVA L SCAMBLER PJ
Citation: M. Ramsay et al., HAPLOTYPE ANALYSIS TO DETERMINE THE POSITION OF A MUTATION AMONG CLOSELY LINKED DNA MARKERS, Human molecular genetics, 2(7), 1993, pp. 1007-1014
MICROSATELLITE HAPLOTYPES FOR CYSTIC-FIBROSIS - MUTATION FRAMEWORKS AND EVOLUTIONARY TRACERS
Authors: MORRAL N NUNES V CASALS T CHILLON M GIMENEZ J BERTRANPETIT J ESTIVILL X
Citation: N. Morral et al., MICROSATELLITE HAPLOTYPES FOR CYSTIC-FIBROSIS - MUTATION FRAMEWORKS AND EVOLUTIONARY TRACERS, Human molecular genetics, 2(7), 1993, pp. 1015-1022
UNIPARENTAL INHERITANCE OF MICROSATELLITE ALLELES OF THE CYSTIC-FIBROSIS GENE (CFTR) - IDENTIFICATION OF A 50-KILOBASE DELETION
Authors: MORRAL N NUNES V CASALS T COBOS N ASENSIO O DAPENA J ESTIVILL X
Citation: N. Morral et al., UNIPARENTAL INHERITANCE OF MICROSATELLITE ALLELES OF THE CYSTIC-FIBROSIS GENE (CFTR) - IDENTIFICATION OF A 50-KILOBASE DELETION, Human molecular genetics, 2(6), 1993, pp. 677-681
Risultati: 1-25 | 26-28