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Results: 1-23 |
Results: 23
PARALLEL MOLECULAR-GENETIC ANALYSIS
Authors: MCKENZIE SE MANSFIELD E RAPPAPORT E SURREY S FORTINA P
Citation: Se. Mckenzie et al., PARALLEL MOLECULAR-GENETIC ANALYSIS, European journal of human genetics, 6(5), 1998, pp. 417-429
MUTATION 35DELG IN THE CONNEXIN-26 GENE IS THE MAJOR CAUSE OF SPORADIC AND FAMILIAL CONGENITAL DEAFNESS IN MEDITERRANEAN PATIENTS
Authors: GASPARINI P FORTINA P SURREY S RABIONET R MELCHIONDA S DAGRUMA L RAPPAPORT E GOVEA N MILA MM ZELANTE L ESTIVILL X
Citation: P. Gasparini et al., MUTATION 35DELG IN THE CONNEXIN-26 GENE IS THE MAJOR CAUSE OF SPORADIC AND FAMILIAL CONGENITAL DEAFNESS IN MEDITERRANEAN PATIENTS, European journal of human genetics, 6, 1998, pp. 4200-4200
CONNEXIN-26 MUTATIONS IN SPORADIC AND INHERITED SENSORINEURAL DEAFNESS
Authors: ESTIVILL X FORTINA P SURREY S RABIONET R MELCHIONDA S DAGRUMA L MANSFIELD E RAPPAPORT E GOVEA N MILA M ZELANTE L GASPARINI P
Citation: X. Estivill et al., CONNEXIN-26 MUTATIONS IN SPORADIC AND INHERITED SENSORINEURAL DEAFNESS, Lancet, 351(9100), 1998, pp. 394-398
CONNEXIN26 MUTATIONS ASSOCIATED WITH THE MOST COMMON FORM OF NON-SYNDROMIC NEUROSENSORY AUTOSOMAL RECESSIVE DEAFNESS (DFNB1) IN MEDITERRANEANS
Authors: ZELANTE L GASPARINI P ESTIVILL X MELCHIONDA S DAGRUMA L GOVEA N MILA M DELLAMONICA M LUTFI J SHOHAT M MANSFIELD E DELGROSSO K RAPPAPORT E SURREY S FORTINA P
Citation: L. Zelante et al., CONNEXIN26 MUTATIONS ASSOCIATED WITH THE MOST COMMON FORM OF NON-SYNDROMIC NEUROSENSORY AUTOSOMAL RECESSIVE DEAFNESS (DFNB1) IN MEDITERRANEANS, Human molecular genetics, 6(9), 1997, pp. 1605-1609
7TH INTERNATIONAL-SYMPOSIUM ON CARDIOVASCULAR PHARMACOTHERAPY - JERUSALEM, ISRAEL, JUNE 1-6, 1997 - INTRODUCTION
Authors: OPIE LH RAPPAPORT E
Citation: Lh. Opie et E. Rappaport, 7TH INTERNATIONAL-SYMPOSIUM ON CARDIOVASCULAR PHARMACOTHERAPY - JERUSALEM, ISRAEL, JUNE 1-6, 1997 - INTRODUCTION, Cardiovascular drugs and therapy, 10(6), 1997, pp. 655-655
A COMMON MUTATION IN THE CONNEXIN-26 GENE IS THE PRIMARY CAUSE OF SPORADIC AND FAMILIAR CONGENITAL DEAFNESS IN MEDITERRANEAN POPULATIONS
Authors: ESTIVILL X RABIONET K ZELANTE L MELCHIONDA S DAGRUMA L MILA M GOVEA N DELGROSSO K SURREY S MANSFIELD E RAPPAPORT E FORTINA P GASPARINI P
Citation: X. Estivill et al., A COMMON MUTATION IN THE CONNEXIN-26 GENE IS THE PRIMARY CAUSE OF SPORADIC AND FAMILIAR CONGENITAL DEAFNESS IN MEDITERRANEAN POPULATIONS, American journal of human genetics, 61(4), 1997, pp. 108-108
SENSITIVITY, REPRODUCIBILITY, AND ACCURACY IN SHORT TANDEM REPEAT GENOTYPING USING CAPILLARY ARRAY ELECTROPHORESIS
Authors: MANSFIELD ES VAINER M ENAD S BARKER DL HARRIS D RAPPAPORT E FORTINA P
Citation: Es. Mansfield et al., SENSITIVITY, REPRODUCIBILITY, AND ACCURACY IN SHORT TANDEM REPEAT GENOTYPING USING CAPILLARY ARRAY ELECTROPHORESIS, PCR methods and applications, 6(9), 1996, pp. 893-903
ALLELIC ASSOCIATION OF MICROSATELLITES OF 6P IN ITALIAN HEMOCHROMATOSIS PATIENTS
Authors: CAMASCHELLA C ROETTO A GASPARINI P PIPERNO A FORTINA P SURREY S RAPPAPORT E
Citation: C. Camaschella et al., ALLELIC ASSOCIATION OF MICROSATELLITES OF 6P IN ITALIAN HEMOCHROMATOSIS PATIENTS, Human genetics, 97(4), 1996, pp. 476-481
NUCLEIC-ACID DETECTION USING NONRADIOACTIVE LABELING METHODS
Authors: MANSFIELD ES WORLEY JM MCKENZIE SE SURREY S RAPPAPORT E FORTINA P
Citation: Es. Mansfield et al., NUCLEIC-ACID DETECTION USING NONRADIOACTIVE LABELING METHODS, Molecular and cellular probes, 9(3), 1995, pp. 145-156
FLUORESCENCE-BASED DNA MINISEQUENCE ANALYSIS FOR DETECTION OF KNOWN SINGLE-BASE CHANGES IN GENOMIC DNA
Authors: KOBAYASHI M RAPPAPORT E BLASBAND A SEMERARO A SARTORE M SURREY S FORTINA P
Citation: M. Kobayashi et al., FLUORESCENCE-BASED DNA MINISEQUENCE ANALYSIS FOR DETECTION OF KNOWN SINGLE-BASE CHANGES IN GENOMIC DNA, Molecular and cellular probes, 9(3), 1995, pp. 175-182
INFUNDIBULOPELVIC STENOSIS, MULTICYSTIC KIDNEY, AND CALYECTASIS IN A KINDRED - CLINICAL OBSERVATIONS AND GENETIC-ANALYSIS
Authors: KOBAYASHI M KAPLAN BS BELLAH RD SARTORE M RAPPAPORT E STEELE MW MANSFIELD E GASPARINI P SURREY S FORTINA P
Citation: M. Kobayashi et al., INFUNDIBULOPELVIC STENOSIS, MULTICYSTIC KIDNEY, AND CALYECTASIS IN A KINDRED - CLINICAL OBSERVATIONS AND GENETIC-ANALYSIS, American journal of medical genetics, 59(2), 1995, pp. 218-224
MOLECULAR STUDIES OF GENETIC HEMOCHROMATOSIS
Authors: CAMASCHELLA C ROETTO A SBAIZ L GASPARINI P PIPERNO A FARGION S FORTINA P RAPPAPORT E SURREY S
Citation: C. Camaschella et al., MOLECULAR STUDIES OF GENETIC HEMOCHROMATOSIS, Blood, 86(10), 1995, pp. 1882-1882
ANALYSIS OF OA1 MUTATIONS IN PATIENTS WITH X-LINKED OCULAR ALBINISM
Authors: GAO M WICK PA LEWIS RA NOWAKOWSKI R RAPPAPORT E SCHNUR RE
Citation: M. Gao et al., ANALYSIS OF OA1 MUTATIONS IN PATIENTS WITH X-LINKED OCULAR ALBINISM, American journal of human genetics, 57(4), 1995, pp. 1226-1226
INFUNDIBULOPELVIC STENOSIS, MULTICYSTIC KIDNEY AND CALYECTASIS IN A KINDRED
Authors: KOBAYASHI M SURREY S FORTINA P SARTORE M RAPPAPORT E BELLA RD STEELE MW MANSFIELD ES KAPLAN BS
Citation: M. Kobayashi et al., INFUNDIBULOPELVIC STENOSIS, MULTICYSTIC KIDNEY AND CALYECTASIS IN A KINDRED, Journal of the American Society of Nephrology, 5(3), 1994, pp. 648-648
MAPLE-SYRUP-URINE-DISEASE (MSUD) - SCREENING FOR KNOWN MUTATIONS IN ITALIAN PATIENTS
Authors: PARRELLA T SURREY S IOLASCON A SARTORE M HEIDENREICH R DIAMOND G PONZONE A GUARDAMAGNA O BURLINA AB CERONE R PARINI R DIONISIVICI C RAPPAPORT E FORTINA P
Citation: T. Parrella et al., MAPLE-SYRUP-URINE-DISEASE (MSUD) - SCREENING FOR KNOWN MUTATIONS IN ITALIAN PATIENTS, Journal of inherited metabolic disease, 17(6), 1994, pp. 652-660
DETECTION OF CLINICALLY RELEVANT DNA MUTATIONS USING A MICROTITER PLATE ASSAY
Authors: KADUCHIN J SCHISSELBAUER J WU L PICKARSKI M RAPPAPORT E FORTINA P
Citation: J. Kaduchin et al., DETECTION OF CLINICALLY RELEVANT DNA MUTATIONS USING A MICROTITER PLATE ASSAY, Clinical chemistry, 40(12), 1994, pp. 2340-2340
COLORIMETRIC DETECTION OF BETA-THALASSEMIA MUTATIONS USING A 96 WELL MICROTITER PLATE ASSAY
Authors: KATTAMIS A SCHISSELBAUER J LE N LEGEAR M SARTORE M RAPPAPORT E KOBAYASHI M SURREY S FORTINA P
Citation: A. Kattamis et al., COLORIMETRIC DETECTION OF BETA-THALASSEMIA MUTATIONS USING A 96 WELL MICROTITER PLATE ASSAY, Blood, 84(10), 1994, pp. 10000260-10000260
INTERACTION OF A RARE ILLEGITIMATE RECOMBINATION EVENT AND A POLY-A ADDITION SITE MUTATION RESULTING IN A SEVERE FORM OF ALPHA-THALASSEMIA
Authors: FORTINA P PARRELLA T SARTORE M GOTTARDI E GABUTTI V DELGROSSO K MANSFIELD E RAPPAPORT E SCHWARTZ E CAMASCHELLA C SURREY S
Citation: P. Fortina et al., INTERACTION OF A RARE ILLEGITIMATE RECOMBINATION EVENT AND A POLY-A ADDITION SITE MUTATION RESULTING IN A SEVERE FORM OF ALPHA-THALASSEMIA, Blood, 83(11), 1994, pp. 3356-3362
FLUORESCENT APPROACHES TO DIAGNOSIS OF LESCH-NYHAN SYNDROME AND QUANTITATIVE-ANALYSIS OF CARRIER STATUS
Authors: MANSFIELD ES BLASBAND A KRONICK MN WRABETZ L KAPLAN P RAPPAPORT E SARTORE M PARRELLA T SURREY S FORTINA P
Citation: Es. Mansfield et al., FLUORESCENT APPROACHES TO DIAGNOSIS OF LESCH-NYHAN SYNDROME AND QUANTITATIVE-ANALYSIS OF CARRIER STATUS, Molecular and cellular probes, 7(4), 1993, pp. 311-324
HB SHELBY BETA-131(H9)GLN-!LYS! IN ASSOCIATION WITH HB-S BETA-6(A3)GLU-!VAL! - CHARACTERIZATION, STABILITY, AND EFFECTS ON HB S POLYMERIZATION
Authors: ADACHI K SURREY S TAMARY H KIM J ECK HS RAPPAPORT E OHENEFREMPONG K
Citation: K. Adachi et al., HB SHELBY BETA-131(H9)GLN-!LYS! IN ASSOCIATION WITH HB-S BETA-6(A3)GLU-!VAL! - CHARACTERIZATION, STABILITY, AND EFFECTS ON HB S POLYMERIZATION, Hemoglobin, 17(4), 1993, pp. 329-343
DUCHENNE-BECKER MUSCULAR-DYSTROPHY CARRIER DETECTION USING QUANTITATIVE PCR AND FLUORESCENCE-BASED STRATEGIES
Authors: MANSFIELD ES ROBERTSON JM LEBO RV LUCERO MY MAYRAND PE RAPPAPORT E PARRELLA T SARTORE M SURREY S FORTINA P
Citation: Es. Mansfield et al., DUCHENNE-BECKER MUSCULAR-DYSTROPHY CARRIER DETECTION USING QUANTITATIVE PCR AND FLUORESCENCE-BASED STRATEGIES, American journal of medical genetics, 48(4), 1993, pp. 200-208
TRANSRECTAL HYPERTHERMIA AS PALLIATIVE TREATMENT FOR ADVANCED ADENOCARCINOMA OF PROSTATE AND STUDIES OF CELL-MEDIATED-IMMUNITY
Authors: STAWARZ B ZIELINSKI H SZMIGIELSKI S RAPPAPORT E DEBICKI P PETROVICH Z
Citation: B. Stawarz et al., TRANSRECTAL HYPERTHERMIA AS PALLIATIVE TREATMENT FOR ADVANCED ADENOCARCINOMA OF PROSTATE AND STUDIES OF CELL-MEDIATED-IMMUNITY, Urology, 41(6), 1993, pp. 548-553
INTERACTION OF A RARE ILLEGITIMATE RECOMBINATION EVENT AND A POLY-A ADDITION SITE MUTATION RESULTING IN A SEVERE FORM OF ALPHA-THALASSEMIA
Authors: FORTINA P PARRELLA T SARTORE M GOTTARDI E GABUTTI V DELGROSSO K MANSFIELD E RAPPAPORT E SCHWARTZ E CAMASCHELLA C SURREY S
Citation: P. Fortina et al., INTERACTION OF A RARE ILLEGITIMATE RECOMBINATION EVENT AND A POLY-A ADDITION SITE MUTATION RESULTING IN A SEVERE FORM OF ALPHA-THALASSEMIA, Blood, 82(10), 1993, pp. 10000362-10000362
Risultati: 1-23 |