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Results: 1-12 |
Results: 12
MAPPING OF A CONGENITAL MICROCORIA LOCUS TO 13Q31-Q32
Authors: ROUILLAC C ROCHE O MARCHANT D BACHNER L KOBETZ A TOULEMONT PJ ORSSAUD C URVOY M ODENT S LEMAREC B ABITBOL M DUFIER JL
Citation: C. Rouillac et al., MAPPING OF A CONGENITAL MICROCORIA LOCUS TO 13Q31-Q32, American journal of human genetics, 62(5), 1998, pp. 1117-1122
PREDISPOSING GENE FOR EARLY-ONSET PROSTATE-CANCER, LOCALIZED ON CHROMOSOME 1Q42.2-43
Authors: BERTHON P VALERI A COHENAKENINE A DRELON E PAISS T WOHR G LATIL A MILLASSEAU P MELLAH I COHEN N BLANCHE H BELLANECHANTELOT C DEMENAIS F TEILLAC P LEDUC A DEPETRICONI R HAUTMANN R CHUMAKOV I BACHNER L MAITLAND NJ LIDEREAU R VOGEL W FOURNIER G MANGIN P COHEN D CUSSENOT O
Citation: P. Berthon et al., PREDISPOSING GENE FOR EARLY-ONSET PROSTATE-CANCER, LOCALIZED ON CHROMOSOME 1Q42.2-43, American journal of human genetics, 62(6), 1998, pp. 1416-1424
DOMINANT X-LINKED SUBCORTICAL LAMINAR HETEROTOPIA AND LISSENCEPHALY SYNDROME (XSCLH LIS) - EVIDENCE FOR THE OCCURRENCE OF MUTATION IN MALESAND MAPPING OF A POTENTIAL LOCUS IN XQ22/
Authors: DESPORTES V PINARD JM SMADJA D MOTTE J BOESPFLUGTANGUY O MOUTARD ML DESGUERRE I BILLUART P CARRIE A BIENVENU T VINET MC BACHNER L BELDJORD C DULAC O KAHN A PONSOT G CHELLY J
Citation: V. Desportes et al., DOMINANT X-LINKED SUBCORTICAL LAMINAR HETEROTOPIA AND LISSENCEPHALY SYNDROME (XSCLH LIS) - EVIDENCE FOR THE OCCURRENCE OF MUTATION IN MALESAND MAPPING OF A POTENTIAL LOCUS IN XQ22/, Journal of Medical Genetics, 34(3), 1997, pp. 177-183
A GENE FOR DOMINANT NONSPECIFIC X-LINKED MENTAL-RETARDATION IS LOCATED IN XQ28
Authors: DESPORTES V BILLUART P CARRIE A BACHNER L BIENVENU T VINET MC BELDJORD C PONSOT G KAHN A BOUE J CHELLY J
Citation: V. Desportes et al., A GENE FOR DOMINANT NONSPECIFIC X-LINKED MENTAL-RETARDATION IS LOCATED IN XQ28, American journal of human genetics, 60(4), 1997, pp. 903-909
THE HEREDITARY PANCREATITIS GENE MAPS TO LONG ARM OF CHROMOSOME-7
Authors: LEBODIC L BIGNON JD RAGUENES O MERCIER B GEORGELIN T SCHNEE M SOULARD F GAGNE K BONNEVILLE F MULLER JY BACHNER L FEREC C
Citation: L. Lebodic et al., THE HEREDITARY PANCREATITIS GENE MAPS TO LONG ARM OF CHROMOSOME-7, Human molecular genetics, 5(4), 1996, pp. 549-554
X-LINKED NEURODEGENERATIVE SYNDROME WITH CONGENITAL ATAXIA, LATE-ONSET PROGRESSIVE MYOCLONIC ENCEPHALOPATHY AND SELECTIVE MACULAR DEGENERATION, LINKED TO XP22.33-PTER
Authors: DESPORTES V BACHNER L BRULS T BELDJORD C BILLUART P SOUFIR N BIENVENU T VINET MC MALASPINA E MARCHIANI V BERTINI E KAHN A FRANZONI E CHELLY J
Citation: V. Desportes et al., X-LINKED NEURODEGENERATIVE SYNDROME WITH CONGENITAL ATAXIA, LATE-ONSET PROGRESSIVE MYOCLONIC ENCEPHALOPATHY AND SELECTIVE MACULAR DEGENERATION, LINKED TO XP22.33-PTER, American journal of medical genetics, 64(1), 1996, pp. 69-72
MAPPING OF A GENE FOR LONG QT SYNDROME TO CHROMOSOME 4Q25-27
Authors: SCHOTT JJ CHARPENTIER F PELTIER S FOLEY P DROUIN E BOUHOUR JB DONNELLY P VERGNAUD G BACHNER L MOISAN JP LEMAREC H PASCAL O
Citation: Jj. Schott et al., MAPPING OF A GENE FOR LONG QT SYNDROME TO CHROMOSOME 4Q25-27, American journal of human genetics, 57(5), 1995, pp. 1114-1122
MAPPING OF THE GENE FOR AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE(ARPKD) TO CHROMOSOME 6P21-CEN
Authors: ZERRES K MUCHER G BACHNER L DESCHENNES G EGGERMANN T KAARIAINEN H KNAPP M LENNERT T MISSELWITZ J VONMUHLENDAHL KE NEUMANN HPH PIRSON Y RUDNIKSCHONEBORN S STEINBICKER V WIRTH B SCHARER K
Citation: K. Zerres et al., MAPPING OF THE GENE FOR AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE(ARPKD) TO CHROMOSOME 6P21-CEN, Nature genetics, 7(3), 1994, pp. 429-432
GENETIC-HETEROGENEITY OF SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH ADHALIN (50 KDA DYSTROPHY-ASSOCIATED GLYCOPROTEIN) DEFICIENCY
Authors: ROMERO NB TOME FMS LETURCQ F ELKERCH F AZIBI K BACHNER L ANDERSON RD ROBERDS SL CAMPBELL KP FARDEAU M KAPLAN JC
Citation: Nb. Romero et al., GENETIC-HETEROGENEITY OF SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH ADHALIN (50 KDA DYSTROPHY-ASSOCIATED GLYCOPROTEIN) DEFICIENCY, Comptes rendus de l'Academie des sciences. Serie 3, Sciences de la vie, 317(1), 1994, pp. 70-76
LINKAGE ANALYSIS OF FAMILIES WITH SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY IN MOROCCO INDICATES GENETIC HOMOGENEITY OF THE DISEASE IN NORTH-AFRICA
Authors: ELKERCH F SEFIANI A AZIBI K BOUTALEB N YAHYAOUI M BENTAHILA A VINET MC LETURCQ F BACHNER L BECKMANN J CAMPBELL KP TOME FMS FARDEAU M KAPLAN JC
Citation: F. Elkerch et al., LINKAGE ANALYSIS OF FAMILIES WITH SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY IN MOROCCO INDICATES GENETIC HOMOGENEITY OF THE DISEASE IN NORTH-AFRICA, Journal of Medical Genetics, 31(4), 1994, pp. 342-343
SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH THE DEFICIENCY OF THE 50 KDA DYSTROPHIN-ASSOCIATED GLYCOPROTEIN MAPS TO CHROMOSOME-13Q12
Authors: AZIBI K BACHNER L BECKMANN JS MATSUMURA K HAMOUDA E CHAOUCH M CHAOUCH A AITOUARAB R VIGNAL A WEISSENBACH J VINET MC LETURCQ F COLLIN H TOME FMS REGHIS A FARDEAU M CAMPBELL KP KAPLAN JC
Citation: K. Azibi et al., SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH THE DEFICIENCY OF THE 50 KDA DYSTROPHIN-ASSOCIATED GLYCOPROTEIN MAPS TO CHROMOSOME-13Q12, Human molecular genetics, 2(9), 1993, pp. 1423-1428
HUNTINGTONS-DISEASE IN FRENCH FAMILIES - CAG REPEAT EXPANSION AND LINKAGE DISEQUILIBRIUM ANALYSIS
Authors: DODE C DURR A PECHEUX C MOURET JF BELAL S BACHNER L AGID Y KAPLAN JC BRICE A FEINGOLD J
Citation: C. Dode et al., HUNTINGTONS-DISEASE IN FRENCH FAMILIES - CAG REPEAT EXPANSION AND LINKAGE DISEQUILIBRIUM ANALYSIS, Comptes rendus de l'Academie des sciences. Serie 3, Sciences de la vie, 316(11), 1993, pp. 1374-1380
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