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Results: 1-10 |
Results: 10
SEVERE MUTATIONS OF THE 21-OH GENE IN 1 3 OF NONCLASSICAL 21-OH DEFICIENCY PATIENTS/
Authors: JARIEGO CM EZQUIETA B VARELA JM OLIVER A GANCEDO PG GRACIA R
Citation: Cm. Jariego et al., SEVERE MUTATIONS OF THE 21-OH GENE IN 1 3 OF NONCLASSICAL 21-OH DEFICIENCY PATIENTS/, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 410-410
DIRECT ANALYSIS OF THE GENE AND MICROSATELLITE TYPING IN PRENATAL-DIAGNOSIS OF 21-HYDROXYLASE DEFICIENCY
Authors: VARELA JM EZQUIETA B JARIEGO CM OLIVER A GANCEDO PG GRACIA R
Citation: Jm. Varela et al., DIRECT ANALYSIS OF THE GENE AND MICROSATELLITE TYPING IN PRENATAL-DIAGNOSIS OF 21-HYDROXYLASE DEFICIENCY, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 419-419
MICROSATELLITE MARKERS IN THE INDIRECT ANALYSIS OF THE STEROID 21-HYDROXYLASE GENE
Authors: EZQUIETA B JARIEGO C VARELA JM OLIVER A GRACIA R
Citation: B. Ezquieta et al., MICROSATELLITE MARKERS IN THE INDIRECT ANALYSIS OF THE STEROID 21-HYDROXYLASE GENE, Prenatal diagnosis, 17(5), 1997, pp. 429-434
PRENATAL MOLECULAR-GENETIC DIAGNOSIS AND TREATMENT OF CONGENITAL ADRENAL-HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY
Authors: RODRIGUEZ A EZQUIETA B VARELA JM MORENO M DULIN E ARNAO MDR
Citation: A. Rodriguez et al., PRENATAL MOLECULAR-GENETIC DIAGNOSIS AND TREATMENT OF CONGENITAL ADRENAL-HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY, Medicina Clinica, 109(17), 1997, pp. 669-672
CHARACTERIZATION OF STEROID 21-HYDROXYLASE GENE-MUTATIONS IN A OLIGOSYMPTOMATIC FORM OF CONGENITAL ADRENAL-HYPERPLASIA - FAMILY STUDY
Authors: OLMOS MAM VARELA JM EZQUIETA B HILLMAN N DIEZ JJ
Citation: Mam. Olmos et al., CHARACTERIZATION OF STEROID 21-HYDROXYLASE GENE-MUTATIONS IN A OLIGOSYMPTOMATIC FORM OF CONGENITAL ADRENAL-HYPERPLASIA - FAMILY STUDY, Medicina Clinica, 109(11), 1997, pp. 421-424
NONISOTOPIC DETECTION OF POINT MUTATIONS IN CYP21B GENE IN STEROID 21-HYDROXYLASE DEFICIENCY
Authors: EZQUIETA B VARELA JM JARIEGO C OLIVER A GRACIA R
Citation: B. Ezquieta et al., NONISOTOPIC DETECTION OF POINT MUTATIONS IN CYP21B GENE IN STEROID 21-HYDROXYLASE DEFICIENCY, Clinical chemistry, 42(7), 1996, pp. 1108-1110
ANALYSIS OF STEROID 21-HYDROXYLASE GENE-MUTATIONS IN THE SPANISH POPULATION
Authors: EZQUIETA B OLIVER A GRACIA R GANCEDO PG
Citation: B. Ezquieta et al., ANALYSIS OF STEROID 21-HYDROXYLASE GENE-MUTATIONS IN THE SPANISH POPULATION, Human genetics, 96(2), 1995, pp. 198-204
DETECTION OF DELTA-F508 CYSTIC-FIBROSIS MUTATION BY POLYMERASE CHAIN-REACTION FROM OLD PARAFFIN-EMBEDDED TISSUES - A RETROSPECTIVE AUTOPSY STUDY
Authors: PALACIOS J EZQUIETA B GAMALLO C LIMERES MA BENITO N RODRIGUEZ JI MOLANO J
Citation: J. Palacios et al., DETECTION OF DELTA-F508 CYSTIC-FIBROSIS MUTATION BY POLYMERASE CHAIN-REACTION FROM OLD PARAFFIN-EMBEDDED TISSUES - A RETROSPECTIVE AUTOPSY STUDY, Modern pathology, 7(3), 1994, pp. 392-395
SCREENING FOR CYSTIC-FIBROSIS MUTATIONS IN SPANISH PATIENTS
Authors: MOLANO J EZQUIETA B GRANELL R
Citation: J. Molano et al., SCREENING FOR CYSTIC-FIBROSIS MUTATIONS IN SPANISH PATIENTS, Clinica chimica acta, 226(2), 1994, pp. 247-253
CF2603 4DELT, A NEW FRAMESHIFT MUTATION IN EXON-13 OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE/
Authors: EZQUIETA B MOLANO J
Citation: B. Ezquieta et J. Molano, CF2603 4DELT, A NEW FRAMESHIFT MUTATION IN EXON-13 OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE/, Human genetics, 91(6), 1993, pp. 614-615
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