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Results: 1-25 | 26-50 | 51-56
Results: 1-25/56
MIGRAINE, ATAXIA AND EPILEPSY - A CHALLENGING SPECTRUM OF GENETICALLY-DETERMINED CALCIUM CHANNELOPATHIES
Authors: TERWINDT GM OPHOFF RA HAAN J SANDKUIJL LA FRANTS RR FERRARI MD
Citation: Gm. Terwindt et al., MIGRAINE, ATAXIA AND EPILEPSY - A CHALLENGING SPECTRUM OF GENETICALLY-DETERMINED CALCIUM CHANNELOPATHIES, European journal of human genetics, 6(4), 1998, pp. 297-307
MIGRAINE ATAXIA, AND EPILEPSY - A CHALLENGING SPECTRUM OF GENETIC DETERMINED CALCIUM CHANNELOPATHIES
Authors: TERWINDT GM OPHOFF RA HAAN J SANDKUIJL LA FRANTS RR FERRARI MD
Citation: Gm. Terwindt et al., MIGRAINE ATAXIA, AND EPILEPSY - A CHALLENGING SPECTRUM OF GENETIC DETERMINED CALCIUM CHANNELOPATHIES, European journal of neuroscience, 10, 1998, pp. 19704-19704
AT(1) RECEPTOR A C-1166 POLYMORPHISM CONTRIBUTES TO CARDIAC-HYPERTROPHY IN SUBJECTS WITH HYPERTROPHIC CARDIOMYOPATHY/
Authors: OSTEROP APRM KOFFLARD MJM SANDKUIJL LA TENCATE FJ KRAMS R SCHALEKAMP MADH DANSER AHJ
Citation: Aprm. Osterop et al., AT(1) RECEPTOR A C-1166 POLYMORPHISM CONTRIBUTES TO CARDIAC-HYPERTROPHY IN SUBJECTS WITH HYPERTROPHIC CARDIOMYOPATHY/, Hypertension, 32(5), 1998, pp. 825-830
THE ANGIOTENSIN-II TYPE-1 RECEPTOR A C-1166 POLYMORPHISM CONTRIBUTES TO CARDIAC-HYPERTROPHY IN PATIENTS WITH HYPERTROPHIC CARDIOMYOPATHY/
Authors: OSTEROP APRM KOFFLARD MJM SANDKUIJL LA TENCATE FJ VANDERTUYN AC
Citation: Aprm. Osterop et al., THE ANGIOTENSIN-II TYPE-1 RECEPTOR A C-1166 POLYMORPHISM CONTRIBUTES TO CARDIAC-HYPERTROPHY IN PATIENTS WITH HYPERTROPHIC CARDIOMYOPATHY/, Circulation, 98(17), 1998, pp. 3788-3788
LOCALIZATION OF THE ICF SYNDROME TO CHROMOSOME-20 BY HOMOZYGOSITY MAPPING
Authors: WIJMENGA C VANDENHEUVEL LPWJ STRENGMAN E LUYTEN JAFM VANDERBURGT IJAM DEGROOT R SMEETS DFCM DRAAISMA JMT VANDONGEN JJ DEABREU RA PEARSON PL SANDKUIJL LA WEEMAES CMR
Citation: C. Wijmenga et al., LOCALIZATION OF THE ICF SYNDROME TO CHROMOSOME-20 BY HOMOZYGOSITY MAPPING, American journal of human genetics, 63(3), 1998, pp. 803-809
A LOCUS FOR AUTOSOMAL RECESSIVE PSEUDOXANTHOMA ELASTICUM, WITH PENETRANCE OF VASCULAR SYMPTOMS IN CARRIERS, MAPS TO CHROMOSOME 16P13.1
Authors: VANSOEST S SWART J TIJMES N SANDKUIJL LA ROMMERS J BERGEN AAB
Citation: S. Vansoest et al., A LOCUS FOR AUTOSOMAL RECESSIVE PSEUDOXANTHOMA ELASTICUM, WITH PENETRANCE OF VASCULAR SYMPTOMS IN CARRIERS, MAPS TO CHROMOSOME 16P13.1, PCR methods and applications, 7(8), 1997, pp. 830-834
MOLECULAR-GENETIC ANALYSIS OF 2 FAMILIES WITH KERATOSIS-FOLLICULARIS SPINULOSA DECALVANS - REFINEMENT OF GENE LOCALIZATION AND EVIDENCE FORGENETIC-HETEROGENEITY
Authors: OOSTERWIJK JC RICHARD G VANDERWIELEN MJR VANDEVOSSE E HARTH W SANDKUIJL LA BAKKER E VANOMMEN GJB
Citation: Jc. Oosterwijk et al., MOLECULAR-GENETIC ANALYSIS OF 2 FAMILIES WITH KERATOSIS-FOLLICULARIS SPINULOSA DECALVANS - REFINEMENT OF GENE LOCALIZATION AND EVIDENCE FORGENETIC-HETEROGENEITY, Human genetics, 100(5-6), 1997, pp. 520-524
THE ENDEMIC TYROLEAN INFANTILE CIRRHOSIS LOCUS IS NOT ON 13Q14.3, THEWILSON DISEASE LOCUS
Authors: HOUWEN RHJ MULLER T BRUNT T FEICHTINGER H MULLER W SANDKUIJL LA PEARSON PL WIJMENGA C
Citation: Rhj. Houwen et al., THE ENDEMIC TYROLEAN INFANTILE CIRRHOSIS LOCUS IS NOT ON 13Q14.3, THEWILSON DISEASE LOCUS, Hepatology, 26(4), 1997, pp. 1591-1591
GENETIC-STUDIES IN AN ISOLATED US POPULATION
Authors: LEVINSON DF SANDKUIJL LA
Citation: Df. Levinson et La. Sandkuijl, GENETIC-STUDIES IN AN ISOLATED US POPULATION, American journal of medical genetics, 74(6), 1997, pp. 651-651
PEUTZ-JEGHERS-SYNDROME DOES NOT MAP TO CHROMOSOME 1P IN THE ORIGINAL PEUTZ-FAMILY
Authors: WESTERMAN AM ENTIUS MM WILSON JHP LINDHOUT D HALLEY DJJ SANDKUIJL LA OFFERHAUS GJA
Citation: Am. Westerman et al., PEUTZ-JEGHERS-SYNDROME DOES NOT MAP TO CHROMOSOME 1P IN THE ORIGINAL PEUTZ-FAMILY, Gastroenterology, 112(4), 1997, pp. 679-679
PARTIAL COSEGREGATION OF FAMILIAL HEMIPLEGIC MIGRAINE AND A BENIGN FAMILIAL INFANTILE EPILEPTIC SYNDROME
Authors: TERWINDT GM OPHOFF RA LINDHOUT D HAAN J HALLEY DJJ SANDKUIJL LA BROUWER OF FRANTS RR FERRARI MD
Citation: Gm. Terwindt et al., PARTIAL COSEGREGATION OF FAMILIAL HEMIPLEGIC MIGRAINE AND A BENIGN FAMILIAL INFANTILE EPILEPTIC SYNDROME, Epilepsia, 38(8), 1997, pp. 915-921
MELANOCORTIN-1 RECEPTOR (MC1R) VARIANT ARG151CYS IS GENERALLY ASSOCIATED WITH FAIR SKIN AND MODIFIES MELANOMA RISK IN DUTCH FAMILIAR ATYPICAL MULTIPLE MOLE MELANOMA (FAMMM)
Authors: GRUIS NA VANDERVELDEN PA SANDKUIJL LA BERGMAN W FRANTS RR
Citation: Na. Gruis et al., MELANOCORTIN-1 RECEPTOR (MC1R) VARIANT ARG151CYS IS GENERALLY ASSOCIATED WITH FAIR SKIN AND MODIFIES MELANOMA RISK IN DUTCH FAMILIAR ATYPICAL MULTIPLE MOLE MELANOMA (FAMMM), American journal of human genetics, 61(4), 1997, pp. 1153-1153
LINKAGE DISEQUILIBRIUM MAPPING IN ISOLATED POPULATIONS - SIMULATION TOOLS FOR POWER ANALYSES
Authors: LEVINSON DF SANDKUIJL LA
Citation: Df. Levinson et La. Sandkuijl, LINKAGE DISEQUILIBRIUM MAPPING IN ISOLATED POPULATIONS - SIMULATION TOOLS FOR POWER ANALYSES, American journal of human genetics, 61(4), 1997, pp. 1180-1180
A FRAGILE-X SCREENING-PROGRAM IN THE NETHERLANDS - PREVALENCE OF FRAGILE-X-SYNDROME LOWER THAN PREVIOUSLY CONSIDERED, BUT THE DISORDER IS STILL UNDERDIAGNOSED
Authors: DEVRIES BBA VANDENOUWELAND AMW MOHKAMSING S DUIVENVOORDEN HJ HALLEY DJJ SANDKUIJL LA OOSTRA BA TIBBEN A NIERMEIJER MF
Citation: Bba. Devries et al., A FRAGILE-X SCREENING-PROGRAM IN THE NETHERLANDS - PREVALENCE OF FRAGILE-X-SYNDROME LOWER THAN PREVIOUSLY CONSIDERED, BUT THE DISORDER IS STILL UNDERDIAGNOSED, American journal of human genetics, 61(4), 1997, pp. 1267-1267
INVOLVEMENT OF THE P Q-TYPE CA2+ CHANNEL ALPHA(1A) SUBUNIT (CACNA1A) GENE REGION ON 19P13 IN MIGRAINE WITH AND WITHOUT AURA/
Authors: OPHOFF RA TERWINDT GM FERRARI MD SANDKUIJL LA FRANTS RR
Citation: Ra. Ophoff et al., INVOLVEMENT OF THE P Q-TYPE CA2+ CHANNEL ALPHA(1A) SUBUNIT (CACNA1A) GENE REGION ON 19P13 IN MIGRAINE WITH AND WITHOUT AURA/, American journal of human genetics, 61(4), 1997, pp. 1851-1851
THE ENDEMIC TYROLEAN INFANTILE CIRRHOSIS LOCUS IS NOT LINKED TO THE WND LOCUS ON CHROMOSOME-13
Authors: WIJMENGA C MULLER T BRUNT T FEICHTIGER H SCHONITZER D HOUWEN R MULLER W SANDKUIJL LA PEARSON PL
Citation: C. Wijmenga et al., THE ENDEMIC TYROLEAN INFANTILE CIRRHOSIS LOCUS IS NOT LINKED TO THE WND LOCUS ON CHROMOSOME-13, American journal of human genetics, 61(4), 1997, pp. 2360-2360
SCREENING AND DIAGNOSIS FOR THE FRAGILE-X-SYNDROME AMONG THE MENTALLY-RETARDED - AN EPIDEMIOLOGIC AND PSYCHOLOGICAL SURVEY
Authors: DEVRIES BBA VANDENOUWELAND AMW MOHKAMSING S DUIVENVOORDEN HJ MOL E GELSEMA K VANRIJN M HALLEY DJJ SANDKUIJL LA OOSTRA BA TIBBEN A NIERMEIJER MF
Citation: Bba. Devries et al., SCREENING AND DIAGNOSIS FOR THE FRAGILE-X-SYNDROME AMONG THE MENTALLY-RETARDED - AN EPIDEMIOLOGIC AND PSYCHOLOGICAL SURVEY, American journal of human genetics, 61(3), 1997, pp. 660-667
GENETIC-MAPPING USING HAPLOTYPE, ASSOCIATION AND LINKAGE METHODS SUGGESTS A LOCUS FOR SEVERE BIPOLAR DISORDER (BPI) AT 18Q22-Q23
Authors: FREIMER NB REUS VI ESCAMILLA MA MCINNES LA SPESNY M LEON P SERVICE SK SMITH LB SILVA S ROJAS E GALLEGOS A MEZA L FOURNIER E BAHARLOO S BLANKENSHIP K TYLER DJ BATKI S VINOGRADOV S WEISSENBACH J BARONDES SH SANDKUIJL LA
Citation: Nb. Freimer et al., GENETIC-MAPPING USING HAPLOTYPE, ASSOCIATION AND LINKAGE METHODS SUGGESTS A LOCUS FOR SEVERE BIPOLAR DISORDER (BPI) AT 18Q22-Q23, Nature genetics, 12(4), 1996, pp. 436-441
FINE MAPPING OF THE AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA LOCUS (RP12) ON CHROMOSOME-1Q - EXCLUSION OF THE PHOSDUCIN GENE (PDC)
Authors: VANSOEST S NIJENHUIS ST VANDENBORN LI BLEEKERWAGEMAKERS EM SHARP E SANDKUIJL LA WESTERVELD A BERGEN AAB
Citation: S. Vansoest et al., FINE MAPPING OF THE AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA LOCUS (RP12) ON CHROMOSOME-1Q - EXCLUSION OF THE PHOSDUCIN GENE (PDC), Cytogenetics and cell genetics, 73(1-2), 1996, pp. 81-85
ADDITIONAL SUPPORT FOR SCHIZOPHRENIA LINKAGE ON CHROMOSOME-6 AND CHROMOSOME-8 - A MULTICENTER STUDY
Authors: LEVINSON DF WILDENAUER DB SCHWAB SG ALBUS M HALLMAYER J LERER B MAIER W BLACKWOOD D MUIR W STCLAIR D MORRIS S MOISES HW YANG L KRISTBJARNARSON H HELGASON T WIESE C COLLIER DA HOLMANS P DANIELS J REES M ASHERSON P ROBERTS Q CARDNO A ARRANZ MJ VALLADA H MCGUFFIN D OWEN MJ PULVER AE ANTONARAKIS SE BABB R BLOUIN JL DEMARCHI N DOMBROSKI B HOUSMAN D KARAYIORGOU M OTT J KASCH L KAZAZIAN H LASSETER VK LOETSCHER E LUEBBERT H NESTADT G TON C WOLYNIEC PS LAURENT C DECHALDEE M THIBAUT F JAY M SAMOLYK D PETIT M CAMPION D MALLET J STRAUB RE MACLEAN CJ EASTER SM ONEILL FA WALSH D KENDLER KS GEJMAN PV CAO QH GERSHON E BADNER J BESHAH E ZHANG J RILEY BP RAJAGOPALAN S MOGUDICARTER M JENKINS T WILLIAMSON R DELISI LE GARNER C KELLY M LEDUC C CARDON L LICHTER J HARRIS T LOFTUS J SHIELDS G COMASI M VITA A SMITH A DANN J JOSLYN G GURLING H KALSI G BRYNJOLFSSON J CURTIS D SIGMUNDSSON T BUTLER R READ T MURPHY P CHEN ACH PETURSSON H BYERLEY B HOFF M HOLIK J COON H NANCARROW DJ CROWE RR ANDREASEN N SILVERMAN JM MOHS RC SIEVER LJ ENDICOTT J SHARPE L WALTERS MK LENNON DP HAYWARD NK SANDKUIJL LA MOWRY BJ ASCHAUER HN MESZAROS K LENZINGER E FUCHS K HEIDEN AM KRUGLYAK L DALY MJ MATISE TC
Citation: Df. Levinson et al., ADDITIONAL SUPPORT FOR SCHIZOPHRENIA LINKAGE ON CHROMOSOME-6 AND CHROMOSOME-8 - A MULTICENTER STUDY, American journal of medical genetics, 67(6), 1996, pp. 580-594
USE OF LINKAGE DISEQUILIBRIUM APPROACHES TO MAP GENES FOR BIPOLAR DISORDER IN THE COSTA-RICAN POPULATION
Authors: ESCAMILLA MA SPESNY M REUS VI GALLEGOS A MEZA L MOLINA J SANDKUIJL LA FOURNIER E LEON PE SMITH LB FREIMER NB
Citation: Ma. Escamilla et al., USE OF LINKAGE DISEQUILIBRIUM APPROACHES TO MAP GENES FOR BIPOLAR DISORDER IN THE COSTA-RICAN POPULATION, American journal of medical genetics, 67(3), 1996, pp. 244-253
AN APPROACH TO INVESTIGATING LINKAGE FOR BIPOLAR DISORDER USING LARGECOSTA-RICAN PEDIGREES
Authors: FREIMER NB REUS VI ESCAMILLA M SPESNY M SMITH L SERVICE S GALLEGOS A MEZA L BATKI S VINOGRADOV S LEON P SANDKUIJL LA
Citation: Nb. Freimer et al., AN APPROACH TO INVESTIGATING LINKAGE FOR BIPOLAR DISORDER USING LARGECOSTA-RICAN PEDIGREES, American journal of medical genetics, 67(3), 1996, pp. 254-263
A COMPLETE GENOME SCREEN FOR GENES PREDISPOSING TO SEVERE BIPOLAR DISORDER IN 2 COSTA-RICAN PEDIGREES
Authors: MCINNES LA ESCAMILLA MA SERVICE SK REUS VI LEON P SILVA S ROJAS E SPESNY M BAHARLOO S BLANKENSHIP K PETERSON A TYLER D SHIMAYOSHI N TOBEY C BATKI S VINOGRADOV S MEZA L GALLEGOS A FOURNIER E SMITH LB BARONDES SH SANDKUIJL LA FREIMER NB
Citation: La. Mcinnes et al., A COMPLETE GENOME SCREEN FOR GENES PREDISPOSING TO SEVERE BIPOLAR DISORDER IN 2 COSTA-RICAN PEDIGREES, Proceedings of the National Academy of Sciences of the United Statesof America, 93(23), 1996, pp. 13060-13065
INCREASED FREQUENCY OF NON-INSULIN-DEPENDENT DIABETES-MELLITUS (NIDDM) IN FAMILIES OF PATIENTS WITH DIABETIC (IDDM) NEPHROPATHY
Authors: TAMSMA JT SONNENBERG A THALEN EO SANDKUIJL LA LEMKES HHPJ
Citation: Jt. Tamsma et al., INCREASED FREQUENCY OF NON-INSULIN-DEPENDENT DIABETES-MELLITUS (NIDDM) IN FAMILIES OF PATIENTS WITH DIABETIC (IDDM) NEPHROPATHY, Diabetes, 45, 1996, pp. 483-483
MULTIPOINT LINKAGE ANALYSIS AND HOMOGENEITY TESTS IN 15 DUTCH X-LINKED RETINITIS-PIGMENTOSA FAMILIES
Authors: BERGEN AAB VANDENBORN LI SCHUURMAN EJM PINCKERS AJLG VANOMMEN GJB BLEEKERSWAGEMAKERS EM SANDKUIJL LA
Citation: Aab. Bergen et al., MULTIPOINT LINKAGE ANALYSIS AND HOMOGENEITY TESTS IN 15 DUTCH X-LINKED RETINITIS-PIGMENTOSA FAMILIES, Ophthalmic genetics, 16(2), 1995, pp. 63-70
Risultati: 1-25 | 26-50 | 51-56