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Results: 1-25/143
THE BJORNSTAD-SYNDROME (SENSORINEURAL HEARING-LOSS AND PILI-TORTI) DISEASE GENE MAPS TO CHROMOSOME 2Q34-36
Authors: NETO JFL LU L EAVEY RD FLORES MAM CALDERA RM SANGWATANAROJ S SCHOTT JJ MCDONOUGH B SANTOS JI SEIDMAN CE SEIDMAN JG
Citation: Jfl. Neto et al., THE BJORNSTAD-SYNDROME (SENSORINEURAL HEARING-LOSS AND PILI-TORTI) DISEASE GENE MAPS TO CHROMOSOME 2Q34-36, American journal of human genetics, 62(5), 1998, pp. 1107-1112
AN ALPHA-CARDIAC MYOSIN HEAVY-CHAIN GENE MUTATION IMPAIRS CONTRACTIONAND RELAXATION IN CARDIAC MYOCYTES
Authors: KIM SJ VATNER SF IIZUKA K CHRISTE M KELLY RA GENG YJ YANG GP BISHOP SP SMITH A SEIDMAN CE SEIDMAN JG
Citation: Sj. Kim et al., AN ALPHA-CARDIAC MYOSIN HEAVY-CHAIN GENE MUTATION IMPAIRS CONTRACTIONAND RELAXATION IN CARDIAC MYOCYTES, Journal of investigative medicine, 46(3), 1998, pp. 195-195
MUTATIONS IN A NOVEL COCHLEAR GENE CAUSE DFNA9, A HUMAN NONSYNDROMIC DEAFNESS WITH VESTIBULAR DYSFUNCTION
Authors: ROBERTSON NG LU L HELLER S MERCHANT SN EAVEY RD MCKENNA M NADOL JB MIYAMOTO RT LINTHICUM FH NETO JFL HUDSPETH AJ SEIDMAN CE MORTON CC SEIDMAN JG
Citation: Ng. Robertson et al., MUTATIONS IN A NOVEL COCHLEAR GENE CAUSE DFNA9, A HUMAN NONSYNDROMIC DEAFNESS WITH VESTIBULAR DYSFUNCTION, Nature genetics, 20(3), 1998, pp. 299-303
MUTATIONS IN HUMAN TBX3 ALTER LIMB, APOCRINE, AND GENITAL DEVELOPMENTIN ULNAR-MAMMARY SYNDROME (VOL 16, PG 311, 1997)
Authors: BAMSHAD M LIN RC LAW DJ WATKINS WS KRAKOWIAK PA MOORE ME FRANCESCHINI P LALA R HOLMES LB GEBUHR TC BRUNEAU B SCHINZEL A SEIDMAN JG SEIDMAN CE JORDE LB
Citation: M. Bamshad et al., MUTATIONS IN HUMAN TBX3 ALTER LIMB, APOCRINE, AND GENITAL DEVELOPMENTIN ULNAR-MAMMARY SYNDROME (VOL 16, PG 311, 1997), Nature genetics, 19(1), 1998, pp. 102-102
HAPLOINSUFFICIENCY OF MSX1 - A MECHANISM FOR SELECTIVE TOOTH AGENESIS
Authors: HU GZ VASTARDIS H BENDALL AJ WANG ZQ LOGAN M ZHANG HL NELSON C STEIN S GREENFIELD N SEIDMAN CE SEIDMAN JG ABATESHEN C
Citation: Gz. Hu et al., HAPLOINSUFFICIENCY OF MSX1 - A MECHANISM FOR SELECTIVE TOOTH AGENESIS, Molecular and cellular biology, 18(10), 1998, pp. 6044-6051
A LOCUS FOR INHERITED FOCAL SEGMENTAL GLOMERULOSCLEROSIS MAPS TO CHROMOSOME 19Q13
Authors: MATHIS BJ KIM SH CALABRESE K HAAS M SEIDMAN JG SEIDMAN CE POLLAK MR
Citation: Bj. Mathis et al., A LOCUS FOR INHERITED FOCAL SEGMENTAL GLOMERULOSCLEROSIS MAPS TO CHROMOSOME 19Q13, Kidney international, 53(2), 1998, pp. 282-286
CLCN5 MUTATION SER244LEU IS ASSOCIATED WITH X-LINKED RENAL-FAILURE WITHOUT X-LINKED RECESSIVE HYPOPHOSPHATEMIC RICKETS
Authors: KELLEHER CL BUCKALEW VM FREDERICKSON ED RHODES DJ CONNER DA SEIDMAN JG SEIDMAN CE
Citation: Cl. Kelleher et al., CLCN5 MUTATION SER244LEU IS ASSOCIATED WITH X-LINKED RENAL-FAILURE WITHOUT X-LINKED RECESSIVE HYPOPHOSPHATEMIC RICKETS, Kidney international, 53(1), 1998, pp. 31-37
CONGENITAL HEART-DISEASE CAUSED BY MUTATIONS IN THE TRANSCRIPTION FACTOR NKX2-5
Authors: SCHOTT JJ BENSON DW BASSON CT PEASE W SILBERBACH GM MOAK JP MARON BJ SEIDMAN CE SEIDMAN JG
Citation: Jj. Schott et al., CONGENITAL HEART-DISEASE CAUSED BY MUTATIONS IN THE TRANSCRIPTION FACTOR NKX2-5, Science, 281(5373), 1998, pp. 108-111
QT DISPERSION IN ALPHA-MHC FAMILIAL HYPERTROPHIC CARDIOMYOPATHY MICE
Authors: BEVILACQUA LM MAGUIRE CT SEIDMAN CE SEIDMAN JG BERUL CI
Citation: Lm. Bevilacqua et al., QT DISPERSION IN ALPHA-MHC FAMILIAL HYPERTROPHIC CARDIOMYOPATHY MICE, Pediatrics (Evanston), 102(3), 1998, pp. 684-684
MUTATIONS IN THE GENE FOR CARDIAC MYOSIN-BINDING PROTEIN-C AND LATE-ONSET FAMILIAL HYPERTROPHIC CARDIOMYOPATHY
Authors: NIIMURA H BACHINSKI LL SANGWATANAROJ S WATKINS H CHUDLEY AE MCKENMA W KRISTINSSON A ROBERTS R SOLE M MARON BJ SEIDMAN JG SEIDMAN CE
Citation: H. Niimura et al., MUTATIONS IN THE GENE FOR CARDIAC MYOSIN-BINDING PROTEIN-C AND LATE-ONSET FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, The New England journal of medicine, 338(18), 1998, pp. 1248-1257
MECHANISM BY WHICH AN MSX1 MUTATION CAUSES HUMAN TOOTH AGENESIS
Authors: VASTARDIS H SEIDMAN JG SEIDMAN CE
Citation: H. Vastardis et al., MECHANISM BY WHICH AN MSX1 MUTATION CAUSES HUMAN TOOTH AGENESIS, Journal of dental research, 77, 1998, pp. 1297-1297
DIASTOLIC DYSFUNCTION AND ALTERED ENERGETICS IN THE ALPHA-MHC403 + MOUSE MODEL OF FAMILIAL HYPERTROPHIC CARDIOMYOPATHY/
Authors: SPINDLER M SAUPE KW CHRISTE ME SWEENEY HL SEIDMAN CE SEIDMAN JG INGWALL JS
Citation: M. Spindler et al., DIASTOLIC DYSFUNCTION AND ALTERED ENERGETICS IN THE ALPHA-MHC403 + MOUSE MODEL OF FAMILIAL HYPERTROPHIC CARDIOMYOPATHY/, The Journal of clinical investigation, 101(8), 1998, pp. 1775-1783
REGULATION OF MURINE FETAL-PLACENTAL CALCIUM-METABOLISM BY THE CALCIUM-SENSING RECEPTOR
Authors: KOVACS CS HOPAO CL HUNZELMAN JL LANSKE B FOX J SEIDMAN JG SEIDMAN CE KRONENBERG HM
Citation: Cs. Kovacs et al., REGULATION OF MURINE FETAL-PLACENTAL CALCIUM-METABOLISM BY THE CALCIUM-SENSING RECEPTOR, The Journal of clinical investigation, 101(12), 1998, pp. 2812-2820
EXERCISE AND BETA-BLOCKER THERAPY IN ALPHA-MYOSIN HEAVY-CHAIN MUTANT MICE WITH HYPERTROPHIC CARDIOMYOPATHY
Authors: HEALEY MJ FATKIN D ARROYO LH LEE RT MAGUIRE CT BEVILACQUA ML BERUL CI SEIDMAN JG SEIDMAN CE
Citation: Mj. Healey et al., EXERCISE AND BETA-BLOCKER THERAPY IN ALPHA-MYOSIN HEAVY-CHAIN MUTANT MICE WITH HYPERTROPHIC CARDIOMYOPATHY, Circulation, 98(17), 1998, pp. 355-355
CARDIAC MYOSIN BINDING-PROTEIN-C MUTATIONS - A MOLECULAR-BASIS FOR ELDERLY-ONSET SPORADIC HYPERTROPHIC CARDIOMYOPATHY
Authors: NIMURA H CARTHON BC MARON BJ MCKENNA WJ CASEY SA ODONOGHUE A SEIDMAN JG SEIDMAN CE
Citation: H. Nimura et al., CARDIAC MYOSIN BINDING-PROTEIN-C MUTATIONS - A MOLECULAR-BASIS FOR ELDERLY-ONSET SPORADIC HYPERTROPHIC CARDIOMYOPATHY, Circulation, 98(17), 1998, pp. 1271-1271
EXACERBATED CARDIOMYOPATHY IN MICE WITH BOTH CARDIAC OVEREXPRESSION OF G(S-ALPHA) AND MISSENSE MUTATION OF ALPHA-MYOSIN HEAVY-CHAIN
Authors: GENG YJ BISHOP SS WAGNER TE YANG GP MATHIER MA YUN JS VATNER DE SHANNON RP HOMCY CJ SEIDMAN CE SEIDMAN JG VATNER SF
Citation: Yj. Geng et al., EXACERBATED CARDIOMYOPATHY IN MICE WITH BOTH CARDIAC OVEREXPRESSION OF G(S-ALPHA) AND MISSENSE MUTATION OF ALPHA-MYOSIN HEAVY-CHAIN, Circulation, 98(17), 1998, pp. 2455-2455
HYPERTROPHIC CARDIOMYOPATHY IN ADULT PATIENTS WITHOUT LEFT-VENTRICULAR HYPERTROPHY - GENOTYPE-PHENOTYPE CORRELATIONS FOR CARDIAC MYOSIN BINDING PROTEIN-C MUTATIONS
Authors: MARRON BJ NIIMURA H CASEY SA SEIDMAN JG SEIDMAN CE
Citation: Bj. Marron et al., HYPERTROPHIC CARDIOMYOPATHY IN ADULT PATIENTS WITHOUT LEFT-VENTRICULAR HYPERTROPHY - GENOTYPE-PHENOTYPE CORRELATIONS FOR CARDIAC MYOSIN BINDING PROTEIN-C MUTATIONS, Circulation, 98(17), 1998, pp. 3133-3133
CHAMBER-RESTRICTED EXPRESSION OF TBX5 IN THE DEVELOPING VERTEBRATE HEART
Authors: BRUNEAU BG LOGAN M TABIN CJ SEIDMAN JG SEIDMAN CE
Citation: Bg. Bruneau et al., CHAMBER-RESTRICTED EXPRESSION OF TBX5 IN THE DEVELOPING VERTEBRATE HEART, Circulation, 98(17), 1998, pp. 3171-3171
ALTERED CROSSBRIDGE KINETICS OF PERMEABILIZED MYOCARDIUM FROM A MOUSEMODEL OF ARG403GLN FAMILIAL HYPERTROPHIC CARDIOMYOPATHY
Authors: MAUGHAN DW BLANCHARD EM SEIDMAN CE SEIDMAN JG LEWINTER MM
Citation: Dw. Maughan et al., ALTERED CROSSBRIDGE KINETICS OF PERMEABILIZED MYOCARDIUM FROM A MOUSEMODEL OF ARG403GLN FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, Circulation, 98(17), 1998, pp. 3285-3285
EVOLUTION OF IN-VIVO LEFT-VENTRICULAR ABNORMALITIES IN MURINE MODEL (ALPHA-MHC403 +) OF FAMILIAL HYPERTROPHIC CARDIOMYOPATHY/
Authors: GEORGAKOPOULOS D SEIDMAN CE GIEWAT M SEIDMAN JG KASS DA
Citation: D. Georgakopoulos et al., EVOLUTION OF IN-VIVO LEFT-VENTRICULAR ABNORMALITIES IN MURINE MODEL (ALPHA-MHC403 +) OF FAMILIAL HYPERTROPHIC CARDIOMYOPATHY/, Circulation, 98(17), 1998, pp. 3289-3289
MUTATIONS IN THE TRANSCRIPTION FACTOR NKX2.5 CAUSE SECUNDUM ATRIAL SEPTAL-DEFECT AND ATRIOVENTRICULAR-BLOCK
Authors: SCHOTT JJ KASAHARA H BENSON DW BASSON CT PEASE W SILBERBACH M MOAK JP IZUMO S SEIDMAN CE SEIDMAN JG
Citation: Jj. Schott et al., MUTATIONS IN THE TRANSCRIPTION FACTOR NKX2.5 CAUSE SECUNDUM ATRIAL SEPTAL-DEFECT AND ATRIOVENTRICULAR-BLOCK, Circulation, 98(17), 1998, pp. 3965-3965
CARDIAC EXPRESSION OF THE MAMMALIAN IROQUOIS-RELATED HOMEOBOX GENE IRX4 IS RESTRICTED TO THE VENTRICLES AND IS DEPENDENT ON NKX2-5
Authors: BRUNEAU BG BAO ZZ TANAKA M SCHOTT JJ IZUMO S CEPKO CL SEIDMAN CE SEIDMAN JG
Citation: Bg. Bruneau et al., CARDIAC EXPRESSION OF THE MAMMALIAN IROQUOIS-RELATED HOMEOBOX GENE IRX4 IS RESTRICTED TO THE VENTRICLES AND IS DEPENDENT ON NKX2-5, Circulation, 98(17), 1998, pp. 3967-3967
REDUCED PENETRANCE, VARIABLE EXPRESSIVITY, AND GENETIC-HETEROGENEITY OF FAMILIAL ATRIAL SEPTAL-DEFECTS
Authors: BENSON DW SHARKEY A FATKIN D LANG P BASSON CT MCDONOUGH B STRAUSS AW SEIDMAN JG SEIDMAN CE
Citation: Dw. Benson et al., REDUCED PENETRANCE, VARIABLE EXPRESSIVITY, AND GENETIC-HETEROGENEITY OF FAMILIAL ATRIAL SEPTAL-DEFECTS, Circulation, 97(20), 1998, pp. 2043-2048
ALTERED REGULATORY FUNCTION OF 2 FHC TROPONIN-T MUTANTS
Authors: MUKHERJEA P SEIDMAN JG SEIDMAN CE WATKINS H HITCHCOCKDEGREGORI SE
Citation: P. Mukherjea et al., ALTERED REGULATORY FUNCTION OF 2 FHC TROPONIN-T MUTANTS, Biophysical journal, 74(2), 1998, pp. 51-51
V-1-CARDIAC MYOSIN ISOLATED FROM A MOUSE MODEL OF FHC MOVES ACTIN SLOWER AND HAS ALTERED UNITARY MECHANICS
Authors: TYSKA MJ HAYES E GIEWAT M SEIDMAN CE SEIDMAN JG WARSHAW DM
Citation: Mj. Tyska et al., V-1-CARDIAC MYOSIN ISOLATED FROM A MOUSE MODEL OF FHC MOVES ACTIN SLOWER AND HAS ALTERED UNITARY MECHANICS, Biophysical journal, 74(2), 1998, pp. 121-121
Risultati: 1-25 | 26-50 | 51-75 | 76-100 | >>