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Results: 26-50/116
MUTATION DETECTION IN THE REPEATED PART OF THE PKD1 GENE
Authors: ROELFSEMA JH SPRUIT L SARIS JJ CHANG P PIRSON Y VANOMMEN GJB PETERS DJM BREUNING MH
Citation: Jh. Roelfsema et al., MUTATION DETECTION IN THE REPEATED PART OF THE PKD1 GENE, American journal of human genetics, 61(5), 1997, pp. 1044-1052
LARGE GENOMIC DELETIONS IN BRCA1 AS MAJOR FOUNDER MUTATIONS AMONG DUTCH BREAST-CANCER FAMILIES
Authors: PEELEN T PETRIJBOSCH A VANVIET M VANEIJK R HOGERVORST F LIGTENBERG M MEIJERSHEIJBOER H KLIJN JGM VASEN HFA VANVEER L BAKKER E VANOMMEN GJB DEVILEE P
Citation: T. Peelen et al., LARGE GENOMIC DELETIONS IN BRCA1 AS MAJOR FOUNDER MUTATIONS AMONG DUTCH BREAST-CANCER FAMILIES, American journal of human genetics, 61(4), 1997, pp. 65-65
HEREDITARY PARAGANGLIOMAS - HETEROGENEITY ANALYSIS AND A FOUNDER EFFECT IN SEVERAL DUTCH FAMILIES
Authors: VANSCHOTHORST EM JANSEN J MARIMAN EC VANDERMEY AGL VANOMMEN GJB SANDKUIJL L DEVILEE P
Citation: Em. Vanschothorst et al., HEREDITARY PARAGANGLIOMAS - HETEROGENEITY ANALYSIS AND A FOUNDER EFFECT IN SEVERAL DUTCH FAMILIES, American journal of human genetics, 61(4), 1997, pp. 279-279
A GENOME-SEQUENCE BASED APPROACH TO COMPUTATIONAL AND EXPERIMENTAL CANDIDATE GENE ANALYSIS OF WOLF-HIRSCHHORN-SYNDROME
Authors: STEC I DENDUNNEN JT VANHAERINGEN A CROQUETTE MF DONNAI D TOUTAIN A MOORMAN AFM DEBOER PAJ VANOMMEN GJB
Citation: I. Stec et al., A GENOME-SEQUENCE BASED APPROACH TO COMPUTATIONAL AND EXPERIMENTAL CANDIDATE GENE ANALYSIS OF WOLF-HIRSCHHORN-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 1415-1415
REFINEMENT OF THE LOCALIZATION OF THE X-LINKED RETINOSCHISIS GENE
Authors: BERGEN AAB VANDEVOSSE E FRANCO B VANDERBENT P BAKKER E MONTINI E HANAUER A TIJMES E VANOMMEN GJB BALLABIO A DENDUNNEN JT
Citation: Aab. Bergen et al., REFINEMENT OF THE LOCALIZATION OF THE X-LINKED RETINOSCHISIS GENE, American journal of human genetics, 61(4), 1997, pp. 1559-1559
ANALYSIS OF C-ELEGANS NEMATODES TRANSGENIC FOR THE START OF THE HD GENE WITH AND WITHOUT AN EXTENDED CAG-REPEAT
Authors: SMOOR MA DORSMAN JC BOUT M VANLUENEN HGAM PLASTERK RHA DENDUNNEN JT VANOMMEN GJB
Citation: Ma. Smoor et al., ANALYSIS OF C-ELEGANS NEMATODES TRANSGENIC FOR THE START OF THE HD GENE WITH AND WITHOUT AN EXTENDED CAG-REPEAT, American journal of human genetics, 61(4), 1997, pp. 1878-1878
THE DUCHENNE BECKER-MUSCULAR-DYSTROPHY DATA PAGES/
Authors: DENDUNNEN JT VANOMMEN GJB BAKKER E
Citation: Jt. Dendunnen et al., THE DUCHENNE BECKER-MUSCULAR-DYSTROPHY DATA PAGES/, American journal of human genetics, 61(4), 1997, pp. 2397-2397
A HIGH PROPORTION OF NOVEL MUTATIONS IN BRCA1 WITH STRONG FOUNDER EFFECTS AMONG DUTCH AND BELGIAN HEREDITARY BREAST AND OVARIAN-CANCER FAMILIES
Authors: PEELEN T VANVLIET M PETRIJBOSCH A MIEREMET R SZABO C VANDENOUWELAND AMW HOGERVORST F BROHET R LIGTENBERG MJL TEUGELS E VANDERLUIJT R VANDERHOUT AH GILLE JJP PALS G JEDEMA I OLMER R VANLEEUWEN I NEWMAN B PLANDSOEN M VANDEREST M BRINK G HAGEMAN S ARTS PJW BAKKER MM WILLEMS HW VANDERLOOIJ E NEYNS B BONDUELLE M JANSEN R OOSTERWIJK JC SIJMONS R SMEETS HJM VANASPEREN CJ MEIJERSHEIJBOER H KLIJN JGM DEGREVE J KING MC MENKO FH BRUNNER HG HALLEY D VANOMMEN GJB VASEN HFA CORNELISSE CJ VANTVEER LJ DEKNIJFF P BAKKER E DEVILEE P
Citation: T. Peelen et al., A HIGH PROPORTION OF NOVEL MUTATIONS IN BRCA1 WITH STRONG FOUNDER EFFECTS AMONG DUTCH AND BELGIAN HEREDITARY BREAST AND OVARIAN-CANCER FAMILIES, American journal of human genetics, 60(5), 1997, pp. 1041-1049
A 10-CM YAC CONTIG SPANNING GLC1A, THE PRIMARY OPEN-ANGLE GLAUCOMA LOCUS AT 1Q23-Q25
Authors: CLEPET C DAUWERSE HJG DESMAZE C VANOMMEN GJB WEISSENBACH J MORISSETTE J
Citation: C. Clepet et al., A 10-CM YAC CONTIG SPANNING GLC1A, THE PRIMARY OPEN-ANGLE GLAUCOMA LOCUS AT 1Q23-Q25, European journal of human genetics, 4(5), 1996, pp. 250-259
CONFINEMENT OF PGL, AN IMPRINTED GENE CAUSING HEREDITARY PARAGANGLIOMAS, TO A 2-CM INTERVAL ON 11Q22-Q23 AND EXCLUSION OF DRD2 AND NCAM AS CANDIDATE GENES
Authors: VANSCHOTHORST EM JANSEN JC BARDOEL AFJ VANDERMEY AGL JAMES MJ SOBOL H WEISSENBACH J VANOMMEN GJB CORNELISSE CJ DEVILEE P
Citation: Em. Vanschothorst et al., CONFINEMENT OF PGL, AN IMPRINTED GENE CAUSING HEREDITARY PARAGANGLIOMAS, TO A 2-CM INTERVAL ON 11Q22-Q23 AND EXCLUSION OF DRD2 AND NCAM AS CANDIDATE GENES, European journal of human genetics, 4(5), 1996, pp. 267-273
AN XP22.1-P22.2 YAC CONTIG ENCOMPASSING THE DISEASE LOCI FOR RS, KFSD, CLS, HYP AND RP15 - REFINED LOCALIZATION OF RS
Authors: VANDEVOSSE E BERGEN AAB MEERSHOEK EJ OOSTERWIJK JC GREGORY S BAKKER B WEISSENBACH J COFFEY AJ VANOMMEN GJB DENDUNNEN JT
Citation: E. Vandevosse et al., AN XP22.1-P22.2 YAC CONTIG ENCOMPASSING THE DISEASE LOCI FOR RS, KFSD, CLS, HYP AND RP15 - REFINED LOCALIZATION OF RS, European journal of human genetics, 4(2), 1996, pp. 101-104
HUMAN-GENETICS, A PREDICTION
Authors: VANOMMEN GJB
Citation: Gjb. Vanommen, HUMAN-GENETICS, A PREDICTION, European journal of human genetics, 4(1), 1996, pp. 1-2
SUBCELLULAR-LOCALIZATION OF THE HUNTINGTONS-DISEASE GENE-PRODUCT IN CELL-LINES BY IMMUNOFLUORESCENCE AND BIOCHEMICAL SUBCELLULAR FRACTIONATION
Authors: DEROOIJ KE DORSMAN JC SMOOR MA DENDUNNEN JT VANOMMEN GJB
Citation: Ke. Derooij et al., SUBCELLULAR-LOCALIZATION OF THE HUNTINGTONS-DISEASE GENE-PRODUCT IN CELL-LINES BY IMMUNOFLUORESCENCE AND BIOCHEMICAL SUBCELLULAR FRACTIONATION, Human molecular genetics, 5(8), 1996, pp. 1093-1099
APPLICATION OF IN-VITRO MYO-DIFFERENTIATION OF NONMUSCLE CELLS TO ENHANCE GENE-EXPRESSION AND FACILITATE ANALYSIS OF MUSCLE PROTEINS
Authors: ROEST PAM VANDERTUIJN AC GINJAAR HB HOEBEN RC HOGERVORST FBL BAKKER E DENDUNNEN JT VANOMMEN GJB
Citation: Pam. Roest et al., APPLICATION OF IN-VITRO MYO-DIFFERENTIATION OF NONMUSCLE CELLS TO ENHANCE GENE-EXPRESSION AND FACILITATE ANALYSIS OF MUSCLE PROTEINS, Neuromuscular disorders, 6(3), 1996, pp. 195-202
EXON MAPPING BY FIBER-FISH OR LR-PCR
Authors: FLORIJN RJ VANDERIJKE FM VROLIJK H BLONDEN LAJ HOFKER MH DENDUNNEN JT TANKE HJ VANOMMEN GJB RAAP AK
Citation: Rj. Florijn et al., EXON MAPPING BY FIBER-FISH OR LR-PCR, Genomics, 38(3), 1996, pp. 277-282
SIMPLE METHOD FOR DETECTION OF MYH11 DNA REARRANGEMENTS IN PATIENTS WITH INV(16)(P13Q22) AND ACUTE MYELOID-LEUKEMIA
Authors: VANDERREIJDEN BA MARTINET D DAUWERSE JG GILES RH WESSELS JW BEVERSTOCK GC SMIT B MUHLEMATTER D BELLOMO MJ GABERT J LAFAGEPOCHITALOFF M REIFFERS J BILHOUNABERA C VANOMMEN GJB HAGEMEIJER A BREUNING MH
Citation: Ba. Vanderreijden et al., SIMPLE METHOD FOR DETECTION OF MYH11 DNA REARRANGEMENTS IN PATIENTS WITH INV(16)(P13Q22) AND ACUTE MYELOID-LEUKEMIA, Leukemia, 10(9), 1996, pp. 1459-1462
ACUTE MYELOGENOUS LEUKEMIA - A DISORDER OF GENE-SPLICING
Authors: VANDERREIJDEN BA VANOMMEN GJB HAGEMEIJER A BREUNING MH
Citation: Ba. Vanderreijden et al., ACUTE MYELOGENOUS LEUKEMIA - A DISORDER OF GENE-SPLICING, Leukemia, 10(2), 1996, pp. 204-206
DETECTION OF FETAL ERYTHROBLASTS IN MATERNAL BLOOD BY ONESTEP GRADIENT ENRICHMENT AND IMMUNOCYTOCHEMICAL RECOGNITION
Authors: OOSTERWIJK JC MESKER WE OUWERKERK MCM KNEPFLE CFHM VANDERBURG MJM WIESMEIJER CC BEVERSTOCK GC LOSEKOOT M BERNINI LF VANOMMEN GJB VANDEKAMP JJP KANHAI HHH TANKE HJ
Citation: Jc. Oosterwijk et al., DETECTION OF FETAL ERYTHROBLASTS IN MATERNAL BLOOD BY ONESTEP GRADIENT ENRICHMENT AND IMMUNOCYTOCHEMICAL RECOGNITION, Early human development, 47, 1996, pp. 95-97
SCANNING FOR GENES IN LARGE GENOMIC REGIONS - COSMID-BASED EXON TRAPPING OF MULTIPLE EXONS IN A SINGLE-PRODUCT
Authors: DATSON NA VANDEVOSSE E DAUWERSE HG BOUT M VANOMMEN GJB DENDUNNEN JT
Citation: Na. Datson et al., SCANNING FOR GENES IN LARGE GENOMIC REGIONS - COSMID-BASED EXON TRAPPING OF MULTIPLE EXONS IN A SINGLE-PRODUCT, Nucleic acids research, 24(6), 1996, pp. 1105-1111
FAMILIAL HEMIPLEGIC MIGRAINE AND EPISODIC ATAXIA TYPE-2 ARE CAUSED BYMUTATIONS IN THE CA2+ CHANNEL GENE CACNL1A4
Authors: OPHOFF RA TERWINDT GM VERGOUWE MN VANEIJK R OEFNER PJ HOFFMAN SMG LAMERDIN JE MOHRENWEISER HW BULMAN DE FERRARI M HAAN J LINDHOUT D VANOMMEN GJB HOFKER MH FERRARI MD FRANTS RR
Citation: Ra. Ophoff et al., FAMILIAL HEMIPLEGIC MIGRAINE AND EPISODIC ATAXIA TYPE-2 ARE CAUSED BYMUTATIONS IN THE CA2+ CHANNEL GENE CACNL1A4, Cell, 87(3), 1996, pp. 543-552
SPLICING MUTATIONS IN DMD BMD DETECTED BY RT-PCR/PTT - DETECTION OF A19AA INSERTION IN THE CYSTEINE-RICH DOMAIN OF DYSTROPHIN COMPATIBLE WITH BMD/
Authors: ROEST PAM BOUT M VANDERTUIJN AC GINJAAR IB BAKKER E HOGERVORST FBL VANOMMEN GJB DENDUNNEN JT
Citation: Pam. Roest et al., SPLICING MUTATIONS IN DMD BMD DETECTED BY RT-PCR/PTT - DETECTION OF A19AA INSERTION IN THE CYSTEINE-RICH DOMAIN OF DYSTROPHIN COMPATIBLE WITH BMD/, Journal of Medical Genetics, 33(11), 1996, pp. 935-939
THE CLINICAL SPECTRUM OF LIMB-GIRDLE MUSCULAR-DYSTROPHY - A SURVEY INTHE NETHERLANDS
Authors: VANDERKOOI AJ BARTH PG BUSCH HFM DEHAAN R GINJAAR HB VANESSEN AJ VANHOOFF LJMA HOWELER CJ JENNEKENS FGI JONGEN P OOSTERHUIS HJGH PADBERG GWAM SPAANS F WINTZEN AR WOKKE JHJ BAKKER E VANOMMEN GJB BOLHUIS PA DEVISSER M
Citation: Aj. Vanderkooi et al., THE CLINICAL SPECTRUM OF LIMB-GIRDLE MUSCULAR-DYSTROPHY - A SURVEY INTHE NETHERLANDS, Brain, 119, 1996, pp. 1471-1480
DIRECT VISUALIZATION OF DISPERSED 11Q13 CHROMOSOMAL TRANSLOCATIONS INMANTLE CELL LYMPHOMA BY MULTICOLOR DNA FIBER FLUORESCENCE IN-SITU HYBRIDIZATION
Authors: VAANDRAGER JW SCHUURING E ZWIKSTRA E DEBOER CJ KLEIVERDA KK VANKRIEKEN JHJM KLUINNELEMANS HC VANOMMEN GJB RAAP AK KLUIN PM
Citation: Jw. Vaandrager et al., DIRECT VISUALIZATION OF DISPERSED 11Q13 CHROMOSOMAL TRANSLOCATIONS INMANTLE CELL LYMPHOMA BY MULTICOLOR DNA FIBER FLUORESCENCE IN-SITU HYBRIDIZATION, Blood, 88(4), 1996, pp. 1177-1182
CLOSING IN ON THE RIEGER SYNDROME GENE ON 4Q25 - MAPPING TRANSLOCATION BREAKPOINTS WITHIN A 50-KB REGION
Authors: DATSON NA SEMINA E VANSTAALDUINEN AAA DAUWERSE HG MEERSHOEK EJ HEUS JJ FRANTS RR DENDUNNEN JT MURRAY JC VANOMMEN GJB
Citation: Na. Datson et al., CLOSING IN ON THE RIEGER SYNDROME GENE ON 4Q25 - MAPPING TRANSLOCATION BREAKPOINTS WITHIN A 50-KB REGION, American journal of human genetics, 59(6), 1996, pp. 1297-1305
APPARENT GENE CONVERSIONS INVOLVING THE SMN GENE IN THE REGION OF THESPINAL MUSCULAR-ATROPHY LOCUS ON CHROMOSOME-5
Authors: VANDERSTEEGE G GROOTSCHOLTEN PM COBBEN JM ZAPPATA S SCHEFFER H DENDUNNEN JT VANOMMEN GJB BRAHE C BUYS CHCM
Citation: G. Vandersteege et al., APPARENT GENE CONVERSIONS INVOLVING THE SMN GENE IN THE REGION OF THESPINAL MUSCULAR-ATROPHY LOCUS ON CHROMOSOME-5, American journal of human genetics, 59(4), 1996, pp. 834-838
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