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Results: 101-125/339
LOCALIZATION OF THE FAMILIAL MEDITERRANEAN FEVER GENE (FMF) TO A 250-KB INTERVAL IN NON-ASHKENAZI JEWISH FOUNDER HAPLOTYPES
Authors: TOUITOU I REY JM DROSS C DUPONT M BRUN O CIANO M DEMAILLE J SMAOUI N NEDELEC B HAMIDI L CATTAN D MERY JP PRIER A CABANE J CHOUKROUN G GODEAU P DELPECH M GRATEAU G FAURE S PRUDHOMME JF CLEPET C WEISSENBACH J AKOPIAN K KOUYOUMDJIAN JC AMSELEM S DERVICHIAN M GOOSSENS M
Citation: I. Touitou et al., LOCALIZATION OF THE FAMILIAL MEDITERRANEAN FEVER GENE (FMF) TO A 250-KB INTERVAL IN NON-ASHKENAZI JEWISH FOUNDER HAPLOTYPES, American journal of human genetics, 59(3), 1996, pp. 603-612
GENETIC AND PHYSICAL MAPPING OF THE CHEDIAK-HIGASHI-SYNDROME ON CHROMOSOME 1Q42-43
Authors: BARRAT FJ AULOGE L PASTURAL E LAGELOUSE RD VILMER E CANT AJ WEISSENBACH J LEPASLIER D FISCHER A DESAINTBASILE G
Citation: Fj. Barrat et al., GENETIC AND PHYSICAL MAPPING OF THE CHEDIAK-HIGASHI-SYNDROME ON CHROMOSOME 1Q42-43, American journal of human genetics, 59(3), 1996, pp. 625-632
LINKAGE DISEQUILIBRIUM ANALYSIS IN YOUNG-POPULATIONS - PSEUDO VITAMIN-D DEFICIENCY RICKETS AND THE FOUNDER EFFECT IN FRENCH-CANADIANS
Authors: LABUDA M LABUDA D KORABLASKOWSKA M COLE DEC ZIETKIEWICZ E WEISSENBACH J POPOWSKA E PRONICKA E ROOT AW GLORIEUX FH
Citation: M. Labuda et al., LINKAGE DISEQUILIBRIUM ANALYSIS IN YOUNG-POPULATIONS - PSEUDO VITAMIN-D DEFICIENCY RICKETS AND THE FOUNDER EFFECT IN FRENCH-CANADIANS, American journal of human genetics, 59(3), 1996, pp. 633-643
A LOCUS FOR FANCONI-ANEMIA ON 16Q DETERMINED BY HOMOZYGOSITY MAPPING
Authors: GSCHWEND M LEVRAN O KRUGLYAK L RANADE K VERLANDER PC SHEN S FAURE S WEISSENBACH J ALTAY C LANDER ES AUERBACH AD BOTSTEIN D
Citation: M. Gschwend et al., A LOCUS FOR FANCONI-ANEMIA ON 16Q DETERMINED BY HOMOZYGOSITY MAPPING, American journal of human genetics, 59(2), 1996, pp. 377-384
SUBSTITUTION OF A CONSERVED CYSTEINE-996 IN A CYSTEINE-RICH MOTIF OF THE LAMININ ALPHA-2-CHAIN IN CONGENITAL MUSCULAR-DYSTROPHY WITH PARTIAL DEFICIENCY OF THE PROTEIN
Authors: NISSINEN M HELBLINGLECLERC A ZHANG X EVANGELISTA T TOPALOGLU H CRUAUD C WEISSENBACH J FARDEAU M TOME FMS SCHWARTZ K TRYGGVASON K GUICHENEY P
Citation: M. Nissinen et al., SUBSTITUTION OF A CONSERVED CYSTEINE-996 IN A CYSTEINE-RICH MOTIF OF THE LAMININ ALPHA-2-CHAIN IN CONGENITAL MUSCULAR-DYSTROPHY WITH PARTIAL DEFICIENCY OF THE PROTEIN, American journal of human genetics, 58(6), 1996, pp. 1177-1184
PROGRESSIVE MYOCLONUS EPILEPSY EPM1 LOCUS MAPS TO A 175-KB INTERVAL IN DISTAL 21Q
Authors: VIRTANEVA K MIAO JM TRASKELIN AL STONE N WARRINGTON JA WEISSENBACH J MYERS RM COX DR SISTONEN P DELACHAPELLE A LEHESJOKI AE
Citation: K. Virtaneva et al., PROGRESSIVE MYOCLONUS EPILEPSY EPM1 LOCUS MAPS TO A 175-KB INTERVAL IN DISTAL 21Q, American journal of human genetics, 58(6), 1996, pp. 1247-1253
AN AUTOSOMAL LOCUS PREDISPOSING TO MULTIPLE DELETIONS OF MTDNA ON CHROMOSOME 3P
Authors: KAUKONEN JA AMATI P SUOMALAINEN A ROTIG A PISCAGLIA MG SALVI F WEISSENBACH J FRATTA G COMI G PELTONEN L ZEVIANI M
Citation: Ja. Kaukonen et al., AN AUTOSOMAL LOCUS PREDISPOSING TO MULTIPLE DELETIONS OF MTDNA ON CHROMOSOME 3P, American journal of human genetics, 58(4), 1996, pp. 763-769
THE GENE RESPONSIBLE FOR A SEVERE FORM OF PERIPHERAL NEUROPATHY AND AGENESIS OF THE CORPUS-CALLOSUM MAPS TO CHROMOSOME 15Q
Authors: CASAUBON LK MELANSON M LOPESCENDES I MARINEAU C ANDERMANN E ANDERMANN F WEISSENBACH J PREVOST C BOUCHARD JP MATHIEU J ROULEAU GA
Citation: Lk. Casaubon et al., THE GENE RESPONSIBLE FOR A SEVERE FORM OF PERIPHERAL NEUROPATHY AND AGENESIS OF THE CORPUS-CALLOSUM MAPS TO CHROMOSOME 15Q, American journal of human genetics, 58(1), 1996, pp. 28-34
THE SJOGREN-LARSSON SYNDROME GENE IS CLOSE TO D17S805 AS DETERMINED BY LINKAGE ANALYSIS AND ALLELIC ASSOCIATION (VOL 8, PG 361, 1994)
Authors: PIGG M JAGELL S SILLEN A WEISSENBACH J GUSTAVSON KH WADELIUS C
Citation: M. Pigg et al., THE SJOGREN-LARSSON SYNDROME GENE IS CLOSE TO D17S805 AS DETERMINED BY LINKAGE ANALYSIS AND ALLELIC ASSOCIATION (VOL 8, PG 361, 1994), Nature genetics, 9(4), 1995, pp. 451-451
AN AUTOSOMAL LOCUS PREDISPOSING TO DELETIONS OF MITOCHONDRIAL-DNA
Authors: SUOMALAINEN A KAUKONEN J AMATI P TIMONEN R HALTIA M WEISSENBACH J ZEVIANI M SOMER H PELTONEN L
Citation: A. Suomalainen et al., AN AUTOSOMAL LOCUS PREDISPOSING TO DELETIONS OF MITOCHONDRIAL-DNA, Nature genetics, 9(2), 1995, pp. 146-151
CARDIAC MYOSIN BINDING PROTEIN-C GENE SPLICE ACCEPTOR SITE MUTATION IS ASSOCIATED WITH FAMILIAL HYPERTROPHIC CARDIOMYOPATHY
Authors: BONNE G CARRIER L BERCOVICI J CRUAUD C RICHARD P HAINQUE B GAUTEL M LABEIT S JAMES M BECKMANN J WEISSENBACH J VOSBERG HP FISZMAN M KOMAJDA M SCHWARTZ K
Citation: G. Bonne et al., CARDIAC MYOSIN BINDING PROTEIN-C GENE SPLICE ACCEPTOR SITE MUTATION IS ASSOCIATED WITH FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, Nature genetics, 11(4), 1995, pp. 438-440
AN INTERNATIONAL 2-STAGE GENOME-WIDE SEARCH FOR SCHIZOPHRENIA SUSCEPTIBILITY GENES
Authors: MOISES HW YANG L KRISTBJARNARSON H WIESE C BYERLEY W MACCIARDI F AROLT V BLACKWOOD D LIU X SJOGREN S ASCHAUER HN HWU HG JANG K LIVESLEY WJ KENNEDY JL ZOEGA T IVARSSON O BUI MT YU MH HAVSTEEN B COMMENGES D WEISSENBACH J SCHWINGER E GOTTESMAN II PAKSTIS AJ WETTERBERG L KIDD KK HELGASON T
Citation: Hw. Moises et al., AN INTERNATIONAL 2-STAGE GENOME-WIDE SEARCH FOR SCHIZOPHRENIA SUSCEPTIBILITY GENES, Nature genetics, 11(3), 1995, pp. 321-324
MUTATIONS IN THE LAMININ ALPHA-2-CHAIN GENE (LAMA2) CAUSE MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY
Authors: HELBLINGLECLERC A ZHANG X TOPALOGLU H CRUAUD C TESSON F WEISSENBACH J TOME FMS SCHWARTZ K FARDEAU M TRYGGVASON K GUICHENEY P
Citation: A. Helblingleclerc et al., MUTATIONS IN THE LAMININ ALPHA-2-CHAIN GENE (LAMA2) CAUSE MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY, Nature genetics, 11(2), 1995, pp. 216-218
LINKAGE OF THE GENE FOR CYSTINOSIS TO MARKERS ON THE SHORT ARM OF CHROMOSOME-17
Authors: MCDOWELL GA GAHL WA STEPHENSON LA SCHNEIDER JA WEISSENBACH J POLYMEROPOULOS MH TOWN MM VANTHOFF W FARRALL M MATHEW CG
Citation: Ga. Mcdowell et al., LINKAGE OF THE GENE FOR CYSTINOSIS TO MARKERS ON THE SHORT ARM OF CHROMOSOME-17, Nature genetics, 10(2), 1995, pp. 246-248
THE GENE FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA WITH PIGMENTARY MACULAR DYSTROPHY MAPS TO CHROMOSOME 3P12-P21.1
Authors: BENOMAR A KROLS L STEVANIN G CANCEL G LEGUERN E DAVID G OUHABI H MARTIN JJ DURR A ZAIM A RAVISE N BUSQUE C PENET C VANREGEMORTER N WEISSENBACH J YAHYAOUI M CHKILI T AGID Y VANBROECKHOVEN C BRICE A
Citation: A. Benomar et al., THE GENE FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA WITH PIGMENTARY MACULAR DYSTROPHY MAPS TO CHROMOSOME 3P12-P21.1, Nature genetics, 10(1), 1995, pp. 84-88
HAPLOTYPE ANALYSIS IN GELSOLIN-RELATED AMYLOIDOSIS REVEALS INDEPENDENT ORIGIN OF IDENTICAL MUTATION (G654A) OF GELSOLIN IN FINLAND AND JAPAN
Authors: PAUNIO T SUNADA Y KIURU S MAKISHITA H IKEDA S WEISSENBACH J PALO J PELTONEN L
Citation: T. Paunio et al., HAPLOTYPE ANALYSIS IN GELSOLIN-RELATED AMYLOIDOSIS REVEALS INDEPENDENT ORIGIN OF IDENTICAL MUTATION (G654A) OF GELSOLIN IN FINLAND AND JAPAN, Human mutation, 6(1), 1995, pp. 60-65
REFINED LOCALIZATION OF THE CEREBRAL CAVERNOUS MALFORMATION GENE (CCM1) TO A 4-CM INTERVAL OF CHROMOSOME 7Q CONTAINED IN A WELL-DEFINED YACCONTIG
Authors: JOHNSON EW IYER LM RICH SS ORR HT GILNAGEL A KURTH JH ZABRAMSKI JM MARCHUK DA WEISSENBACH J CLERICUZIO CL DAVIS LE HART BL GUSELLA JF KOSOFSKY BE LOUIS DN MORRISON LA GREEN ED WEBER JL
Citation: Ew. Johnson et al., REFINED LOCALIZATION OF THE CEREBRAL CAVERNOUS MALFORMATION GENE (CCM1) TO A 4-CM INTERVAL OF CHROMOSOME 7Q CONTAINED IN A WELL-DEFINED YACCONTIG, PCR methods and applications, 5(4), 1995, pp. 368-380
THE HUMAN OBESE (OB) GENE - RNA EXPRESSION PATTERN AND MAPPING ON THEPHYSICAL, CYTOGENETIC, AND GENETIC MAPS OF CHROMOSOME-7
Authors: GREEN ED MAFFEI M BRADEN VV PROENCA R DESILVA U ZHANG YY CHUA SC LEIBEL RL WEISSENBACH J FRIEDMAN JM
Citation: Ed. Green et al., THE HUMAN OBESE (OB) GENE - RNA EXPRESSION PATTERN AND MAPPING ON THEPHYSICAL, CYTOGENETIC, AND GENETIC MAPS OF CHROMOSOME-7, PCR methods and applications, 5(1), 1995, pp. 5-12
ALLELIC IMBALANCE ON CHROMOSOME-I IN HUMAN BREAST-CANCER .2. MICROSATELLITE REPEAT ANALYSIS
Authors: HOGGARD N BRINTNELL B HOWELL A WEISSENBACH J VARLEY J
Citation: N. Hoggard et al., ALLELIC IMBALANCE ON CHROMOSOME-I IN HUMAN BREAST-CANCER .2. MICROSATELLITE REPEAT ANALYSIS, Genes, chromosomes & cancer, 12(1), 1995, pp. 24-31
ESTABLISHMENT OF THE MARKER ORDER D1S252-D1S440-D1S453-D1S514-CEN-D1S442-D1S498-QTER IN RELATION TO THE CENTROMERE ON HUMAN-CHROMOSOME-1
Authors: HOGGARD N BRINTNELL B HEY Y JONES D WEISSENBACH J MITCHELL E VARLEY J
Citation: N. Hoggard et al., ESTABLISHMENT OF THE MARKER ORDER D1S252-D1S440-D1S453-D1S514-CEN-D1S442-D1S498-QTER IN RELATION TO THE CENTROMERE ON HUMAN-CHROMOSOME-1, Chromosome research, 3(2), 1995, pp. 137-138
LOCALIZATION OF THE SCHWARTZ-JAMPEL SYNDROME (SJS) LOCUS TO CHROMOSOME 1P34-P36.1 BY HOMOZYGOSITY MAPPING
Authors: NICOLE S BENHAMIDA C BEIGHTON P BAKOURI S BELAL S ROMERO N VILJOEN D PONSOT G SAMMOUD A WEISSENBACH J FARDEAU M HAMIDA MB FONTAINE B HENTATI F
Citation: S. Nicole et al., LOCALIZATION OF THE SCHWARTZ-JAMPEL SYNDROME (SJS) LOCUS TO CHROMOSOME 1P34-P36.1 BY HOMOZYGOSITY MAPPING, Human molecular genetics, 4(9), 1995, pp. 1633-1636
GENETIC AND PHYSICAL CHARACTERIZATION OF THE EARLY-ONSET ALZHEIMERS-DISEASE AD3 LOCUS ON CHROMOSOME 14Q24.3
Authors: CRUTS M BACKHOVENS H THEUNS J CLARK RF LEPASLIER D WEISSENBACH J GOATE AM MARTIN JJ VANBROECKHOVEN C
Citation: M. Cruts et al., GENETIC AND PHYSICAL CHARACTERIZATION OF THE EARLY-ONSET ALZHEIMERS-DISEASE AD3 LOCUS ON CHROMOSOME 14Q24.3, Human molecular genetics, 4(8), 1995, pp. 1355-1364
AUTOSOMAL RECESSIVE LAMELLAR ICHTHYOSIS - IDENTIFICATION OF A NEW MUTATION IN TRANSGLUTAMINASE-1 AND EVIDENCE FOR GENETIC-HETEROGENEITY
Authors: PARMENTIER L BLANCHETBARDON C NGUYEN S PRUDHOMME JF DUBERTRET L WEISSENBACH J
Citation: L. Parmentier et al., AUTOSOMAL RECESSIVE LAMELLAR ICHTHYOSIS - IDENTIFICATION OF A NEW MUTATION IN TRANSGLUTAMINASE-1 AND EVIDENCE FOR GENETIC-HETEROGENEITY, Human molecular genetics, 4(8), 1995, pp. 1391-1395
A GENE FOR LEBERS CONGENITAL AMAUROSIS MAPS TO CHROMOSOME 17P
Authors: CAMUZAT A DOLLFUS H ROZET JM GERBER S BONNEAU D BONNEMAISON M BRIARD ML DUFIER JL GHAZI I LEOWSKI C WEISSENBACH J FREZAL J MUNNICH A KAPLAN J
Citation: A. Camuzat et al., A GENE FOR LEBERS CONGENITAL AMAUROSIS MAPS TO CHROMOSOME 17P, Human molecular genetics, 4(8), 1995, pp. 1447-1452
EVIDENCE FOR INTERGENERATIONAL INSTABILITY IN THE CAG REPEAT IN THE MJD1 GENE AND FOR CONSERVED HAPLOTYPES AT FLANKING MARKERS AMONGST JAPANESE AND CAUCASIAN SUBJECTS WITH MACHADO-JOSEPH DISEASE
Authors: TAKIYAMA Y IGARASHI S ROGAEVA EA ENDO K ROGAEV EI TANAKA H SHERRINGTON R SANPEI K LIANG Y SAITO M TSUDA T TAKANO H IKEDA M LIN C CHI H KENNEDY JL LANG AE WHERRETT JR SEGAWA M NOMURA Y YUASA T WEISSENBACH J YOSHIDA M NISHIZAWA M KIDD KK TSUJI S STGEORGEHYSLOP PH
Citation: Y. Takiyama et al., EVIDENCE FOR INTERGENERATIONAL INSTABILITY IN THE CAG REPEAT IN THE MJD1 GENE AND FOR CONSERVED HAPLOTYPES AT FLANKING MARKERS AMONGST JAPANESE AND CAUCASIAN SUBJECTS WITH MACHADO-JOSEPH DISEASE, Human molecular genetics, 4(7), 1995, pp. 1137-1146
Risultati: << | 101-125 | 126-150 | 151-175 | 176-200 | >>