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Results: 1-24 |
Results: 24
SHORT GCG EXPANSIONS IN THE PABP2 GENE CAUSE OCULOPHARYNGEAL MUSCULAR-DYSTROPHY
Authors: BRAIS B BOUCHARD JP XIE YG ROCHEFORT DL CHRETIEN N TOME FMS LAFRENIERE RG ROMMENS JM UYAMA E NOHIRA O BLUMEN S KORCYN AD HEUTINK P MATHIEU J DURANCEAU A CODERE F FARDEAU M ROULEAU GA
Citation: B. Brais et al., SHORT GCG EXPANSIONS IN THE PABP2 GENE CAUSE OCULOPHARYNGEAL MUSCULAR-DYSTROPHY, Nature genetics, 18(2), 1998, pp. 164-167
MICROTUBULE-ASSOCIATED PROTEIN-TAU IN 3 DUTCH FAMILIES WITH FRONTOTEMPORAL DEMENTIA LINKED TO CHROMOSOME 17Q21-22
Authors: VANSWIETEN JC KAMPHORST W CROWTHER T HEUTINK P SPILLANTINI MG
Citation: Jc. Vanswieten et al., MICROTUBULE-ASSOCIATED PROTEIN-TAU IN 3 DUTCH FAMILIES WITH FRONTOTEMPORAL DEMENTIA LINKED TO CHROMOSOME 17Q21-22, Annals of neurology, 44(3), 1998, pp. 215-215
GENETICS OF LIMB DEVELOPMENT AND CONGENITAL HAND MALFORMATIONS
Authors: ZGURICAS J BAKKER WF HEUS H LINDHOUT D HEUTINK P HOVIUS SER
Citation: J. Zguricas et al., GENETICS OF LIMB DEVELOPMENT AND CONGENITAL HAND MALFORMATIONS, Plastic and reconstructive surgery, 101(4), 1998, pp. 1126-1135
FAMILIAL AGGREGATION IN FRONTOTEMPORAL DEMENTIA
Authors: STEVENS M VANDUIJN CM KAMPHORST W DEKNIJFF P HEUTINK P VANGOOL WA SCHELTENS P RAVID R OOSTRA BA NIERMEIJER MF VANSWIETEN JC
Citation: M. Stevens et al., FAMILIAL AGGREGATION IN FRONTOTEMPORAL DEMENTIA, Neurology, 50(6), 1998, pp. 1541-1545
ASSOCIATION OF MISSENSE AND 5'-SPLICE-SITE MUTATIONS IN TAU WITH THE INHERITED DEMENTIA FTDP-17
Authors: HUTTON M LENDON CL RIZZU P BAKER M FROELICH S HOULDEN H PICKERINGBROWN S CHAKRAVERTY S ISAACS A GROVER A HACKETT J ADAMSON J LINCOLN S DICKSON D DAVIES P PETERSEN RC STEVENS M DEGRAAFF E WAUTERS E VANBAREN J HILLEBRAND M JOOSSE M KWON JM NOWOTNY P CHE LK NORTON J MORRIS JC REED LA TROJANOWSKI J BASUN H LANNFELT L NEYSTAT M FAHN S DARK F TANNENBERG T DODD PR HAYWARD N KWOK JBJ SCHOFIELD PR ANDREADIS A SNOWDEN J CRAUFURD D NEARY D OWEN F OOSTRA BA HARDY J GOATE A VANSWIETEN J MANN D LYNCH T HEUTINK P
Citation: M. Hutton et al., ASSOCIATION OF MISSENSE AND 5'-SPLICE-SITE MUTATIONS IN TAU WITH THE INHERITED DEMENTIA FTDP-17, Nature, 393(6686), 1998, pp. 702-705
TAU PATHOLOGY IN 2 DUTCH FAMILIES WITH MUTATIONS IN THE MICROTUBULE-BINDING REGION OF TAU
Authors: SPILLANTINI MG CROWTHER RA KAMPHORST W HEUTINK P VANSWIETEN JC
Citation: Mg. Spillantini et al., TAU PATHOLOGY IN 2 DUTCH FAMILIES WITH MUTATIONS IN THE MICROTUBULE-BINDING REGION OF TAU, The American journal of pathology, 153(5), 1998, pp. 1359-1363
FRONTOTEMPORAL DEMENTIA AND PARKINSONISM LINKED TO CHROMOSOME-17 - A CONSENSUS CONFERENCE
Authors: FOSTER NL WILHELMSEN K SIMA AAF JONES MZ DAMATO CJ GILMAN S SPILLANTINI MG LYNCH T MAYEUX RP GASKELL PC HULETTE CM PERICAKVANCE MA WELSHBOHMER KA DICKSON DW HEUTINK P KROS J VANSWIETEN JC ARWERT F GHETTI MB MURRELL J LANNFELT L HUTTON M JONES M PHELPS CH SNYDER DS OLIVER E BALL MJ CUMMINGS JL MILLER BL KATZMAN R REED L SCHELPER RL LANDSKA DJ BRUN A FINK JK KUHL DE KNOPMAN DS WSZOLEK Z MILLER CA BIRD TD LENDON C ELECHI C
Citation: Nl. Foster et al., FRONTOTEMPORAL DEMENTIA AND PARKINSONISM LINKED TO CHROMOSOME-17 - A CONSENSUS CONFERENCE, Annals of neurology, 41(6), 1997, pp. 706-715
HEREDITARY FRONTOTEMPORAL DEMENTIA IS LINKED TO CHROMOSOME-17Q21-Q22 - A GENETIC AND CLINICOPATHOLOGICAL STUDY OF 3 DUTCH FAMILIES
Authors: HEUTINK P STEVENS M RIZZU P BAKKER E KROS JM TIBBEN A NIERMEIJER MF VANDUIJN CM OOSTRA BA VANSWIETEN JC
Citation: P. Heutink et al., HEREDITARY FRONTOTEMPORAL DEMENTIA IS LINKED TO CHROMOSOME-17Q21-Q22 - A GENETIC AND CLINICOPATHOLOGICAL STUDY OF 3 DUTCH FAMILIES, Annals of neurology, 41(2), 1997, pp. 150-159
APOLIPOPROTEIN-E GENE AND SPORADIC FRONTAL-LOBE DEMENTIA
Authors: STEVENS M VANDUIJN CM DEKNIJFF P VANBROECKHOVEN C HEUTINK P OOSTRA BA NIERMEIJER MF VANSWIETEN JC
Citation: M. Stevens et al., APOLIPOPROTEIN-E GENE AND SPORADIC FRONTAL-LOBE DEMENTIA, Neurology, 48(6), 1997, pp. 1526-1529
FAMILIAL AGGREGATION IN FRONTOTEMPORAL DEMENTIA
Authors: STEVENS M VANDUIJN CM OOSTRA BA HEUTINK P VANSWIETEN JC
Citation: M. Stevens et al., FAMILIAL AGGREGATION IN FRONTOTEMPORAL DEMENTIA, Neurology, 48(3), 1997, pp. 5032-5032
AUTOSOMAL-DOMINANT CENTRAL AREOLAR CHOROIDAL DYSTROPHY CAUSED BY A MUTATION IN CODON-142 IN THE PERIPHERIN RDS GENE/
Authors: HOYNG CB HEUTINK P TESTERS L PINCKERS A DEUTMAN AF OOSTRA BA
Citation: Cb. Hoyng et al., AUTOSOMAL-DOMINANT CENTRAL AREOLAR CHOROIDAL DYSTROPHY CAUSED BY A MUTATION IN CODON-142 IN THE PERIPHERIN RDS GENE/, American journal of ophthalmology, 121(6), 1996, pp. 623-629
THE GENETIC BACKGROUND OF CRANIOSYNOSTOSIS SYNDROMES
Authors: HEUTINK P VERMEIJKEERS C OOSTRA BA
Citation: P. Heutink et al., THE GENETIC BACKGROUND OF CRANIOSYNOSTOSIS SYNDROMES, European journal of human genetics, 3(5), 1995, pp. 312-323
GENE FOR TRIPHALANGEAL THUMB MAPS TO CHROMOSOME 7Q36
Authors: HEUTINK P ZGURICAS J BREEDVELD GJ TESTERS L LINDHOUT D HOVIUS SER OOSTRA BA
Citation: P. Heutink et al., GENE FOR TRIPHALANGEAL THUMB MAPS TO CHROMOSOME 7Q36, Cytogenetics and cell genetics, 71(1), 1995, pp. 31-31
A MUTATION IN CODON-142 IN CENTRAL AREOLAR CHOROIDAL DYSTROPHY
Authors: HOYNG CB HEUTINK P DEUTMAN AF OOSTRA BA
Citation: Cb. Hoyng et al., A MUTATION IN CODON-142 IN CENTRAL AREOLAR CHOROIDAL DYSTROPHY, Investigative ophthalmology & visual science, 36(4), 1995, pp. 825-825
CONSTRUCTION OF A YAC CONTIG AND STS MAP SPANNING 2.5 MB IN 7Q36, THECRITICAL REGION FOR THE PREAXIAL POLYDACTYLY TYPE-2 GENE
Authors: HING A HEUTINK P READ C LACY M WANG JC BURGESS A HELMS C SCHERER S TSUI LC OOSTRA B DONISKELLER H
Citation: A. Hing et al., CONSTRUCTION OF A YAC CONTIG AND STS MAP SPANNING 2.5 MB IN 7Q36, THECRITICAL REGION FOR THE PREAXIAL POLYDACTYLY TYPE-2 GENE, American journal of human genetics, 57(4), 1995, pp. 1513-1513
LINKAGE STUDIES ON GILLES-DE-LA-TOURETTE SYNDROME - WHAT IS THE STRATEGY OF CHOICE
Authors: HEUTINK P VANDEWETERING BJM PAKSTIS AJ KURLAN R SANDOR P OOSTRA BA SANDKUIJL LA
Citation: P. Heutink et al., LINKAGE STUDIES ON GILLES-DE-LA-TOURETTE SYNDROME - WHAT IS THE STRATEGY OF CHOICE, American journal of human genetics, 57(2), 1995, pp. 465-473
ENDOGLIN, A TGF-BETA BINDING-PROTEIN OF ENDOTHELIAL-CELLS, IS THE GENE FOR HEREDITARY HEMORRHAGIC TELANGIECTASIA TYPE-1
Authors: MCALLISTER KA GROGG KM JOHNSON DW GALLIONE CJ BALDWIN MA JACKSON CE HELMBOLD EA MARKEL DS MCKINNON WC MURRELL J MCCORMICK MK PERICAKVANCE MA HEUTINK P OOSTRA BA HAITJEMA T WESTERMAN CJJ PORTEOUS ME GUTTMACHER AE LETARTE M MARCHUK DA
Citation: Ka. Mcallister et al., ENDOGLIN, A TGF-BETA BINDING-PROTEIN OF ENDOTHELIAL-CELLS, IS THE GENE FOR HEREDITARY HEMORRHAGIC TELANGIECTASIA TYPE-1, Nature genetics, 8(4), 1994, pp. 345-351
THE GENE FOR TRIPHALANGEAL THUMB MAPS TO THE SUBTELOMERIC REGION OF CHROMOSOME 7Q
Authors: HEUTINK P ZGURICAS J VANOOSTERHOUT L BREEDVELD GJ TESTERS L SANDKUIJL LA SNIJDERS PJLM WEISSENBACH J LINDHOUT D HOVIUS SER OOSTRA BA
Citation: P. Heutink et al., THE GENE FOR TRIPHALANGEAL THUMB MAPS TO THE SUBTELOMERIC REGION OF CHROMOSOME 7Q, Nature genetics, 6(3), 1994, pp. 287-292
ASSIGNMENT OF A 2ND LOCUS FOR MULTIPLE EXOSTOSES TO THE PERICENTROMERIC REGION OF CHROMOSOME-11
Authors: WU YQ HEUTINK P DEVRIES BBA SANDKUIJL LA VANDENOUWELAND AMW NIERMEIJER MF GALJAARD H REYNIERS E WILLEMS PJ HALLEY DJJ
Citation: Yq. Wu et al., ASSIGNMENT OF A 2ND LOCUS FOR MULTIPLE EXOSTOSES TO THE PERICENTROMERIC REGION OF CHROMOSOME-11, Human molecular genetics, 3(1), 1994, pp. 167-171
PHENOTYPIC ANALYSIS OF TRIPHALANGEAL THUMB AND ASSOCIATED HAND MALFORMATIONS
Authors: ZGURICAS J SNIJDERS PJLM HOVIUS SER HEUTINK P OOSTRA BA LINDHOUT D
Citation: J. Zguricas et al., PHENOTYPIC ANALYSIS OF TRIPHALANGEAL THUMB AND ASSOCIATED HAND MALFORMATIONS, Journal of Medical Genetics, 31(6), 1994, pp. 462-467
LINKAGE OF HEREDITARY HEMORRHAGIC TELANGIECTASIA TO CHROMOSOME 9Q34 AND EVIDENCE FOR LOCUS HETEROGENEITY
Authors: HEUTINK P HAITJEMA T BREEDVELD GJ JANSSEN B SANDKUIJL LA BONTEKOE CJM WESTERMAN CJJ OOSTRA BA
Citation: P. Heutink et al., LINKAGE OF HEREDITARY HEMORRHAGIC TELANGIECTASIA TO CHROMOSOME 9Q34 AND EVIDENCE FOR LOCUS HETEROGENEITY, Journal of Medical Genetics, 31(12), 1994, pp. 933-936
DINUCLEOTIDE REPEAT POLYMORPHISM AT D11S994 LOCUS
Authors: BONTEKOE CJM DEGRAAFF E BREEDVELD GJ OOSTRA BA HEUTINK P
Citation: Cjm. Bontekoe et al., DINUCLEOTIDE REPEAT POLYMORPHISM AT D11S994 LOCUS, Human molecular genetics, 2(10), 1993, pp. 1747-1747
THE GENETICS OF THE GILLES-DE-LA-TOURETTE SYNDROME - A REVIEW
Authors: VANDEWETERING BJM HEUTINK P
Citation: Bjm. Vandewetering et P. Heutink, THE GENETICS OF THE GILLES-DE-LA-TOURETTE SYNDROME - A REVIEW, The Journal of laboratory and clinical medicine, 121(5), 1993, pp. 638-645
COMPUTER-SIMULATIONS ON FAMILIES WITH GILLES-DE-LA-TOURETTE SYNDROME
Authors: HEUTINK P VANDEWETERING BJM PAKSTIS AJ KURLAN R SANDOR P DEVOR EJ OOSTRA BA SANDKUIJL LA
Citation: P. Heutink et al., COMPUTER-SIMULATIONS ON FAMILIES WITH GILLES-DE-LA-TOURETTE SYNDROME, American journal of human genetics, 53(3), 1993, pp. 1015-1015
Risultati: 1-24 |