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Results: 1-20 |
Results: 20
CORRELATION BETWEEN WAARDENBURG-SYNDROME PHENOTYPE AND GENOTYPE IN A POPULATION OF INDIVIDUALS WITH IDENTIFIED PAX3 MUTATIONS
Authors: DESTEFANO AL CUPPLES LA ARNOS KS ASHER JH BALDWIN CT BLANTON S CAREY ML DASILVA EO FRIEDMAN TB GREENBERG J LALWANI AK MILUNSKY A NANCE WE PANDYA A RAMESAR RS READ AP TASSABEJHI M WILCOX ER FARRER LA
Citation: Al. Destefano et al., CORRELATION BETWEEN WAARDENBURG-SYNDROME PHENOTYPE AND GENOTYPE IN A POPULATION OF INDIVIDUALS WITH IDENTIFIED PAX3 MUTATIONS, Human genetics, 102(5), 1998, pp. 499-506
PRENATAL-DIAGNOSIS OF HETEROZYGOSITY FOR BIOTINIDASE DEFICIENCY BY ENZYMATIC AND MOLECULAR ANALYSES
Authors: POMPONIO RJ HYMERS J PANDYA A LANDA B MELONE P JAVAHERI R MARDACH R MORTON SW MEYERS GA REYNOLDS T BUCK G NANCE WE WOLF B
Citation: Rj. Pomponio et al., PRENATAL-DIAGNOSIS OF HETEROZYGOSITY FOR BIOTINIDASE DEFICIENCY BY ENZYMATIC AND MOLECULAR ANALYSES, Prenatal diagnosis, 18(2), 1998, pp. 117-122
MUTATION IN THE MITOCHONDRIAL 12S RIBOSOMAL-RNA GENE IN 2 FAMILIES FROM MONGOLIA WITH MATRILINEAL AMINOGLYCOSIDE OTOTOXICITY
Authors: PANDYA A XIA X RADNAABAZAR J BATSUURI J DANGAANSUREN B FISCHELGHODSIAN N NANCE WE
Citation: A. Pandya et al., MUTATION IN THE MITOCHONDRIAL 12S RIBOSOMAL-RNA GENE IN 2 FAMILIES FROM MONGOLIA WITH MATRILINEAL AMINOGLYCOSIDE OTOTOXICITY, Journal of Medical Genetics, 34(2), 1997, pp. 169-172
DIAGNOSTIC-VALUE OF DIRECT MUTATION ANALYSIS IN FAMILIES WITH HEREDITARY PANCREATITIS
Authors: PANDYA A XIAJUAN X BLANTON SH LANDA B MARKELLO T NANCE WE
Citation: A. Pandya et al., DIAGNOSTIC-VALUE OF DIRECT MUTATION ANALYSIS IN FAMILIES WITH HEREDITARY PANCREATITIS, American journal of human genetics, 61(4), 1997, pp. 1098-1098
PHENOTYPIC VARIATION IN WAARDENBURG SYNDROME - MUTATIONAL HETEROGENEITY, MODIFIER GENES OR POLYGENIC BACKGROUND
Authors: PANDYA A XIA XJ LANDA BL ARNOS KS ISRAEL J LLOYD J JAMES AL DIEHL SR BLANTON SH NANCE WE
Citation: A. Pandya et al., PHENOTYPIC VARIATION IN WAARDENBURG SYNDROME - MUTATIONAL HETEROGENEITY, MODIFIER GENES OR POLYGENIC BACKGROUND, Human molecular genetics, 5(4), 1996, pp. 497-502
LINKAGE STUDIES IN A LARGE KINDRED WITH HEREDITARY PANCREATITIS CONFIRMS MAPPING OF THE GENE TO A 16-CM REGION ON 7Q
Authors: PANDYA A BLANTON SH LANDA B JAVAHERI R MELVIN E NANCE WE MARKELLO T
Citation: A. Pandya et al., LINKAGE STUDIES IN A LARGE KINDRED WITH HEREDITARY PANCREATITIS CONFIRMS MAPPING OF THE GENE TO A 16-CM REGION ON 7Q, Genomics, 38(2), 1996, pp. 227-230
PREIMPLANTATION GENETIC TESTING FOR HUNTINGTON DISEASE AND CERTAIN OTHER DOMINANTLY INHERITED DISORDERS
Authors: SCHULMAN JD BLACK SH HANDYSIDE A NANCE WE
Citation: Jd. Schulman et al., PREIMPLANTATION GENETIC TESTING FOR HUNTINGTON DISEASE AND CERTAIN OTHER DOMINANTLY INHERITED DISORDERS, Clinical genetics, 49(2), 1996, pp. 57-58
MAJOR-LOCUS CONTRIBUTIONS TO VARIABILITY OF THE CRANIOFACIAL FEATURE DYSTOPIA CANTHORUM IN WAARDENBURG SYNDROME
Authors: REYNOLDS JE MARAZITA ML MEYER JM STEVENS CA EAVES LJ ARNOS KS PLOUGHMAN LM MACLEAN C NANCE WE DIEHL SR
Citation: Je. Reynolds et al., MAJOR-LOCUS CONTRIBUTIONS TO VARIABILITY OF THE CRANIOFACIAL FEATURE DYSTOPIA CANTHORUM IN WAARDENBURG SYNDROME, American journal of human genetics, 58(2), 1996, pp. 384-392
MATERNAL ENVIRONMENT DEFINES BLOOD-PRESSURE AND ITS RESPONSE TO TROLEANDOMYCIN IN SPONTANEOUSLY HYPERTENSIVE RATS
Authors: BASU AK HAGLEY RD GHOSH SS KRAMER L NANCE WE WATLINGTON CO
Citation: Ak. Basu et al., MATERNAL ENVIRONMENT DEFINES BLOOD-PRESSURE AND ITS RESPONSE TO TROLEANDOMYCIN IN SPONTANEOUSLY HYPERTENSIVE RATS, American journal of hypertension, 8(3), 1995, pp. 321-324
ANALYSIS OF VARIABILITY OF CLINICAL MANIFESTATIONS IN WAARDENBURG SYNDROME
Authors: REYNOLDS JE MEYER JM LANDA B STEVENS CA ARNOS KS ISRAEL J MARAZITA ML BODURTHA J NANCE WE DIEHL SR
Citation: Je. Reynolds et al., ANALYSIS OF VARIABILITY OF CLINICAL MANIFESTATIONS IN WAARDENBURG SYNDROME, American journal of medical genetics, 57(4), 1995, pp. 540-547
EFFECT OF PASSIVE SMOKING ON CYP1A2 ACTIVITY IN TWINS
Authors: LLEWELLYN BE KALOW W TANG BK PANDYA A SCHIEKEN RM MEYER JM NANCE WE
Citation: Be. Llewellyn et al., EFFECT OF PASSIVE SMOKING ON CYP1A2 ACTIVITY IN TWINS, American journal of human genetics, 57(4), 1995, pp. 1843-1843
ANALYSIS OF LOCUS HETEROGENEITY IN WAARDENBURG-SYNDROME TYPE-1 AND TYPE-2 USING HIGHLY INFORMATIVE MICROSATELLITE MARKERS
Authors: REYNOLDS JE ARNOS KS LANDA B STEVENS CA SALBERT BA WRIGHT L DUKE B HUNT W MARAZITA ML PLOUGHMAN L MACLEAN C NANCE WE DIEHL SR
Citation: Je. Reynolds et al., ANALYSIS OF LOCUS HETEROGENEITY IN WAARDENBURG-SYNDROME TYPE-1 AND TYPE-2 USING HIGHLY INFORMATIVE MICROSATELLITE MARKERS, Human heredity, 45(5), 1995, pp. 243-252
NATIONAL-INSTITUTES-OF-HEALTH CONSENSUS DEVELOPMENT CONFERENCE STATEMENT ON ACOUSTIC NEUROMA, DECEMBER 11-13, 1991
Authors: NANCE WE BROADDUS WC BAILEY BJ LEESTMA JE PERSKY V LEWIN M MAYBERG MA PAUKER SG THRALL JH RATNER N RINTELMANN WF RUBEN RJ STOCKMAN LV WEBB JS BERLIN CI BINI WD BRACKMANN DE CURTIN HD ELDRIDGE R GARETH D EVANS R FICKEL VD GARDNER G GLASCOCK ME HOUSE WF JACKLER RK KAISERKUPFER MI KARTUSH JM LEVINE RE LINGGOOD RM LUNSFORD D MARTUZA RL MUSIEK FE NEDZELSKI JM OJEMANN RG PARRY DM ROBERTSON JT SCHWARTZ J SEIZINGER BR SHANNON RV SOBEL RA THOMSEN J WIET RJ MIYAMOTO RT BRAY EA CLIPPER SE ELLIOTT JM FERGUSON JH HALL WH SCHLESINGER SL WILSON MA ADAMS RD LUNSFORD LD NAUNTON RF
Citation: We. Nance et al., NATIONAL-INSTITUTES-OF-HEALTH CONSENSUS DEVELOPMENT CONFERENCE STATEMENT ON ACOUSTIC NEUROMA, DECEMBER 11-13, 1991, Archives of neurology, 51(2), 1994, pp. 201-207
LOCUS HETEROGENEITY FOR WAARDENBURG SYNDROME IS PREDICTIVE OF CLINICAL SUBTYPES
Authors: FARRER LA ARNOS KS ASHER JH BALDWIN CT DIEHL SR FRIEDMAN TB GREENBERG J GRUNDFAST KM HOTH C LALWANI AK LANDA B LEVERTON K MILUNSKY A MORELL R NANCE WE NEWTON V RAMESAR R RAO VS REYNOLDS JE SANAGUSTIN TB WILCOX ER WINSHIP I READ AP
Citation: La. Farrer et al., LOCUS HETEROGENEITY FOR WAARDENBURG SYNDROME IS PREDICTIVE OF CLINICAL SUBTYPES, American journal of human genetics, 55(4), 1994, pp. 728-737
GENETIC-MAPPING IN THE VICINITY OF THE WAARDENBURG SYNDROME GENE (WS1)
Authors: REYNOLDS JE LANDA B DUKE B ARNOS KS STEVENS C HUNT W CASE S ISRAEL J MARAZITA M BODURTHA J MACLEAN C MEYER J NANCE WE DIEHL SR
Citation: Je. Reynolds et al., GENETIC-MAPPING IN THE VICINITY OF THE WAARDENBURG SYNDROME GENE (WS1), Cytogenetics and cell genetics, 64(2), 1993, pp. 92-92
COMBINED PEDIGREE AND TWIN FAMILY STUDY TO DETERMINE THE SOURCES OF VARIATION IN SERUM BIOTINIDASE ACTIVITY - THE USEFULNESS OF MULTIPLE STUDY DESIGNS
Authors: WEISSBECKER KA WOLF B EAVES LJ MARAZITA ML NANCE WE
Citation: Ka. Weissbecker et al., COMBINED PEDIGREE AND TWIN FAMILY STUDY TO DETERMINE THE SOURCES OF VARIATION IN SERUM BIOTINIDASE ACTIVITY - THE USEFULNESS OF MULTIPLE STUDY DESIGNS, American journal of medical genetics, 47(2), 1993, pp. 231-240
GENETIC EPIDEMIOLOGIC STUDIES OF EARLY-ONSET DEAFNESS IN THE UNITED-STATES SCHOOL-AGE POPULATION
Authors: MARAZITA ML PLOUGHMAN LM RAWLINGS B REMINGTON E ARNOS KS NANCE WE
Citation: Ml. Marazita et al., GENETIC EPIDEMIOLOGIC STUDIES OF EARLY-ONSET DEAFNESS IN THE UNITED-STATES SCHOOL-AGE POPULATION, American journal of medical genetics, 46(5), 1993, pp. 486-491
UNIVARIATE GENETIC-ANALYSIS OF OXYGEN-TRANSPORT REGULATION IN CHILDREN - THE MEDICAL-COLLEGE-OF-VIRGINIA TWIN STUDY
Authors: MOSKOWITZ WB MOSTELLER M HEWITT JK EAVES LJ NANCE WE SCHIEKEN RM
Citation: Wb. Moskowitz et al., UNIVARIATE GENETIC-ANALYSIS OF OXYGEN-TRANSPORT REGULATION IN CHILDREN - THE MEDICAL-COLLEGE-OF-VIRGINIA TWIN STUDY, Pediatric research, 33(6), 1993, pp. 645-648
SELF-REPORTED PERIODONTAL-DISEASE IN A VIRGINIA TWIN POPULATION
Authors: COREY LA NANCE WE HOFSTEDE P SCHENKEIN HA
Citation: La. Corey et al., SELF-REPORTED PERIODONTAL-DISEASE IN A VIRGINIA TWIN POPULATION, Journal of periodontology, 64(12), 1993, pp. 1205-1208
1992 AMERICAN-SOCIETY-OF-HUMAN-GENETICS PRESIDENTIAL-ADDRESS - BACK TO THE FUTURE
Authors: NANCE WE
Citation: We. Nance, 1992 AMERICAN-SOCIETY-OF-HUMAN-GENETICS PRESIDENTIAL-ADDRESS - BACK TO THE FUTURE, American journal of human genetics, 53(1), 1993, pp. 6-15
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