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Results: 1-17 |
Results: 17
MOLECULAR-GENETIC ANALYSIS OF THE GENE FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA WITH RETINAL DEGENERATION (ADCA TYPE-II) CONTAINING AN EXPANDED CAG TRINUCLEOTIDE REPEAT
Authors: MICHALIK A DELFAVERO J KROLS L THEUNS J LOFGREN A GOOSSENS D WEHNERT A VANDENBOSSCHE D VANZAND K BACKHOVENS H VANREGEMORTER N MARTIN JJ VANBROECKHOVEN C
Citation: A. Michalik et al., MOLECULAR-GENETIC ANALYSIS OF THE GENE FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA WITH RETINAL DEGENERATION (ADCA TYPE-II) CONTAINING AN EXPANDED CAG TRINUCLEOTIDE REPEAT, European journal of human genetics, 6, 1998, pp. 505-505
A HUMAN HOMOLOG OF THE DROSOPHILA EYES ABSENT GENE UNDERLIES BRANCHIOOTORENAL (BOR) SYNDROME AND IDENTIFIES A NOVEL GENE FAMILY
Authors: ABDELHAK S KALATZIS V HEILIG R COMPAIN S SAMSON D VINCENT C WEIL D CRUAUD C SAHLY I LEIBOVICI M BITNERGLINDZICZ M FRANCIS M LACOMBE D VIGNERON J CHARACHON R BOVEN K BEDBEDER P VANREGEMORTER N WEISSENBACH J PETIT C
Citation: S. Abdelhak et al., A HUMAN HOMOLOG OF THE DROSOPHILA EYES ABSENT GENE UNDERLIES BRANCHIOOTORENAL (BOR) SYNDROME AND IDENTIFIES A NOVEL GENE FAMILY, Nature genetics, 15(2), 1997, pp. 157-164
REFINEMENT OF THE LOCUS FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA TYPE-II TO CHROMOSOME 3P21.1-14.1
Authors: KROLS L MARTIN JJ DAVID G VANREGEMORTER N BENOMAR A LOFGREN A STEVANIN G DURR A BRICE A VANBROECKHOVEN C
Citation: L. Krols et al., REFINEMENT OF THE LOCUS FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA TYPE-II TO CHROMOSOME 3P21.1-14.1, Human genetics, 99(2), 1997, pp. 225-232
X-LINKED IMMUNODEFICIENCY CAUSED BY INSERTION OF ALU REPEAT SEQUENCES
Authors: LESTER T MCMAHON C VANREGEMORTER N JONES A GENET S
Citation: T. Lester et al., X-LINKED IMMUNODEFICIENCY CAUSED BY INSERTION OF ALU REPEAT SEQUENCES, Journal of Medical Genetics, 34, 1997, pp. 1417-1417
A DETAILED INVESTIGATION OF 2 CASES EXHIBITING CHARACTERISTICS OF THE6P DELETION SYNDROME
Authors: DAVIES AF OLAVESEN MG STEPHENS RJ DAVIDSON R DELNESTE D VANREGEMORTER N VAMOS E FLINTER F ABUSAAD I RAGOUSSIS J
Citation: Af. Davies et al., A DETAILED INVESTIGATION OF 2 CASES EXHIBITING CHARACTERISTICS OF THE6P DELETION SYNDROME, Human genetics, 98(4), 1996, pp. 454-459
SUBSTITUTION OF GLYCINE-661 BY SERINE IN THE ALPHA-1(I) AND ALPHA-2(I) CHAINS OF TYPE-I COLLAGEN RESULTS IN DIFFERENT CLINICAL AND BIOCHEMICAL PHENOTYPES
Authors: NUYTINCK L DALGLEISH R SPOTILA L RENARD JP VANREGEMORTER N DEPAEPE A
Citation: L. Nuytinck et al., SUBSTITUTION OF GLYCINE-661 BY SERINE IN THE ALPHA-1(I) AND ALPHA-2(I) CHAINS OF TYPE-I COLLAGEN RESULTS IN DIFFERENT CLINICAL AND BIOCHEMICAL PHENOTYPES, Human genetics, 97(3), 1996, pp. 324-329
ANTENATAL DIAGNOSIS OF SHORT-LIMB DWARFISM - SONOGRAPHIC APPROACH
Authors: AVNI EF RYPENS F ZAPPA M DONNER C VANREGEMORTER N COHEN E
Citation: Ef. Avni et al., ANTENATAL DIAGNOSIS OF SHORT-LIMB DWARFISM - SONOGRAPHIC APPROACH, Pediatric radiology, 26(3), 1996, pp. 171-178
A D255H SUBSTITUTION IN THE ARYLSULFATASE-A GENE OF 2 UNRELATED BELGIAN PATIENTS WITH LATE-INFANTILE METACHROMATIC LEUKODYSTROPHY
Authors: LISSENS W VERVOORT R VANREGEMORTER N VANBOGAERT P FREUND M VERELLENDUMOULIN C SENECA S LIEBAERS I
Citation: W. Lissens et al., A D255H SUBSTITUTION IN THE ARYLSULFATASE-A GENE OF 2 UNRELATED BELGIAN PATIENTS WITH LATE-INFANTILE METACHROMATIC LEUKODYSTROPHY, Journal of inherited metabolic disease, 19(6), 1996, pp. 782-786
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
CORDOCENTESIS FOR RAPID KARYOTYPE - 421 CONSECUTIVE CASES
Authors: DONNER C RYPENS F PAQUET V COHEN E DELNESTE D VANREGEMORTER N VAMOS E AVNI F RODESCH F
Citation: C. Donner et al., CORDOCENTESIS FOR RAPID KARYOTYPE - 421 CONSECUTIVE CASES, Fetal diagnosis and therapy, 10(3), 1995, pp. 192-199
MID-PORTION AGENESIS OF CORPUS-CALLOSUM IN A PRESUMED BALLER-GEROLD SYNDROME
Authors: DUNAC A VANBOGAERT P DAVID P AVNI EF PADUART O SZLIWOWSKI HB VANREGEMORTER N
Citation: A. Dunac et al., MID-PORTION AGENESIS OF CORPUS-CALLOSUM IN A PRESUMED BALLER-GEROLD SYNDROME, Neuropediatrics, 26(5), 1995, pp. 273-275
SEVERE SMITH-LEMLI-OPITZ SYNDROME WITH PROLONGED SURVIVAL AND LIPID ABNORMALITIES
Authors: PIERQUIN G PEETERS P ROELS F VAMOS E BRUCHER JM TINT GS HONDA A VANREGEMORTER N
Citation: G. Pierquin et al., SEVERE SMITH-LEMLI-OPITZ SYNDROME WITH PROLONGED SURVIVAL AND LIPID ABNORMALITIES, American journal of medical genetics, 56(3), 1995, pp. 276-280
MOLECULAR CHARACTERIZATION OF 2 CASES WITH INTERSTITIAL 6P DELETIONS
Authors: RAGOUSSIS I OLAVESEN M STEPHENS R DAVIDSON R VAMOS E DELNESTE D VANREGEMORTER N FLINTER F DAVIES A
Citation: I. Ragoussis et al., MOLECULAR CHARACTERIZATION OF 2 CASES WITH INTERSTITIAL 6P DELETIONS, American journal of human genetics, 57(4), 1995, pp. 690-690
GENETIC AND PHYSICAL MAPPING IN THE CANDIDATE REGION ON CHROMOSOME 3P12-P21.1 FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA WITH RETINAL DEGENERATION (ADCA-II)
Authors: KROLS L LOFGREN A MARTIN JJ VANREGEMORTER N VANBROECKHOVEN C
Citation: L. Krols et al., GENETIC AND PHYSICAL MAPPING IN THE CANDIDATE REGION ON CHROMOSOME 3P12-P21.1 FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA WITH RETINAL DEGENERATION (ADCA-II), American journal of human genetics, 57(4), 1995, pp. 1520-1520
PROXIMAL DELETION OF CHROMOSOME-21 CONFIRMED BY IN-SITU HYBRIDIZATIONAND MOLECULAR STUDIES
Authors: COURTENS W PETERSEN MB NOEL JC FLAMENTDURAND J VANREGEMORTER N DELNESTE D COCHAUX P VERSCHRAEGENSPAE MR VANROY N SPELEMAN F KOENIG U VAMOS E
Citation: W. Courtens et al., PROXIMAL DELETION OF CHROMOSOME-21 CONFIRMED BY IN-SITU HYBRIDIZATIONAND MOLECULAR STUDIES, American journal of medical genetics, 51(3), 1994, pp. 260-265
ON AN AUTOSOMAL-DOMINANT FORM OF RETINAL-CEREBELLAR DEGENERATION - ANAUTOPSY STUDY OF 5 PATIENTS IN ONE FAMILY
Authors: MARTIN JJ VANREGEMORTER N KROLS L BRUCHER JM DEBARSY T SZLIWOWSKI H EVRARD P CEUTERICK C TASSIGNON MJ SMETDIELEMAN H HAYEZDELATTE F WILLEMS PJ VANBROECKHOVEN C
Citation: Jj. Martin et al., ON AN AUTOSOMAL-DOMINANT FORM OF RETINAL-CEREBELLAR DEGENERATION - ANAUTOPSY STUDY OF 5 PATIENTS IN ONE FAMILY, Acta Neuropathologica, 88(4), 1994, pp. 277-286
BIOCHEMICAL-DIAGNOSIS OF A FATAL CASE OF GUNTHER DISEASE IN A NEWBORNWITH HYDROPS-FETALIS
Authors: VERSTRAETEN L VANREGEMORTER N PARDOU A DEVERNEUIL H DASILVA V RODESCH F VERMEYLEN D DONNER C NOEL JC NORDMANN Y HASSOUN A
Citation: L. Verstraeten et al., BIOCHEMICAL-DIAGNOSIS OF A FATAL CASE OF GUNTHER DISEASE IN A NEWBORNWITH HYDROPS-FETALIS, European journal of clinical chemistry and clinical biochemistry, 31(3), 1993, pp. 121-128
Risultati: 1-17 |