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Results: 1-12 |
Results: 12
INTERCHROMOSOMAL AND INTRACHROMOSOMAL SUB-TELOMERIC REARRANGEMENTS ON4Q35 - IMPLICATIONS FOR FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD)ETIOLOGY AND DIAGNOSIS
Authors: LEMMERS RJLF VANDERMAAREL SM VANDEUTEKOM JCT VANDERWIELEN MJR DEIDDA G DAUWERSE HG HEWITT J HOFKER M BAKKER E PADBERG GW FRANTS RR
Citation: Rjlf. Lemmers et al., INTERCHROMOSOMAL AND INTRACHROMOSOMAL SUB-TELOMERIC REARRANGEMENTS ON4Q35 - IMPLICATIONS FOR FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD)ETIOLOGY AND DIAGNOSIS, Human molecular genetics (Print), 7(8), 1998, pp. 1207-1214
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
SUBTELOMERIC EXCHANGE OF 3.3. KB REPEATS BETWEEN CHROMOSOMES 4Q35 AND10Q26 IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY - IMPLICATIONS FOR COUNSELING AND ETIOLOGY
Authors: PADBERG GW VANDEUTEKOM JC BAKKER E VANDERWIELEN MJR BIK EJ HOFKER MH FRANTS RR
Citation: Gw. Padberg et al., SUBTELOMERIC EXCHANGE OF 3.3. KB REPEATS BETWEEN CHROMOSOMES 4Q35 AND10Q26 IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY - IMPLICATIONS FOR COUNSELING AND ETIOLOGY, Neurology, 48(3), 1997, pp. 21001-21001
ATYPICAL HBH-DISEASE IN A SURINAMESE PATIENT RESULTING FROM A COMBINATION OF THE -SEA-DELETION AND -ALPHA(3.7)-DELETION WITH HBC HETEROZYGOSITY
Authors: GIORDANO PC HARTEVELD CL MICHIELS JJ TERPSTRA W BATELAAN D VANDELFT P PLUG RJ VANDERWIELEN MJR LOSEKOOT M BERNINI LF
Citation: Pc. Giordano et al., ATYPICAL HBH-DISEASE IN A SURINAMESE PATIENT RESULTING FROM A COMBINATION OF THE -SEA-DELETION AND -ALPHA(3.7)-DELETION WITH HBC HETEROZYGOSITY, British Journal of Haematology, 96(4), 1997, pp. 801-805
MORE INSIGHT IN THE GENETIC MECHANISMS UNDERLYING FACIOSCAPULOHUMERALMUSCULAR-DYSTROPHY
Authors: VANDERMAAREL SM LEMMERS RJL VANDEUTEKOM JCT BAKKER E VANDERWIELEN MJR BIK E HOFKER MH PADBERG GW FRANTS RR
Citation: Sm. Vandermaarel et al., MORE INSIGHT IN THE GENETIC MECHANISMS UNDERLYING FACIOSCAPULOHUMERALMUSCULAR-DYSTROPHY, American journal of human genetics, 61(4), 1997, pp. 277-277
EVIDENCE FOR SUBTELOMERIC EXCHANGE OF 3.3 KB TANDEMLY REPEATED UNITS BETWEEN CHROMOSOMES 4Q35 AND 10Q26 - IMPLICATIONS FOR GENETIC-COUNSELING AND ETIOLOGY OF FSHD1
Authors: VANDEUTEKOM JCT BAKKER E LEMMERS RJLF VANDERWIELEN MJR BIK E HOFKER MH PADBERG GW FRANTS RR
Citation: Jct. Vandeutekom et al., EVIDENCE FOR SUBTELOMERIC EXCHANGE OF 3.3 KB TANDEMLY REPEATED UNITS BETWEEN CHROMOSOMES 4Q35 AND 10Q26 - IMPLICATIONS FOR GENETIC-COUNSELING AND ETIOLOGY OF FSHD1, Human molecular genetics, 5(12), 1996, pp. 1997-2003
DIAGNOSTIC, PREDICTIVE, AND PRENATAL TESTING FOR FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY - DIAGNOSTIC-APPROACH FOR SPORADIC AND FAMILIAL CASES
Authors: BAKKER E VANDERWIELEN MJR VOORHOEVE E IPPEL PF PADBERG GW FRANTS RR WIJMENGA C
Citation: E. Bakker et al., DIAGNOSTIC, PREDICTIVE, AND PRENATAL TESTING FOR FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY - DIAGNOSTIC-APPROACH FOR SPORADIC AND FAMILIAL CASES, Journal of Medical Genetics, 33(1), 1996, pp. 29-35
REFINEMENT OF THE LOCALIZATION OF THE X-LINKED KERATOSIS-FOLLICULARISSPINULOSA DECALVANS (KFSD) GENE IN XP22.13-P22.2
Authors: OOSTERWIJK JC VANDERWIELEN MJR VANDEVOSSE E VOORHOEVE E BAKKER E
Citation: Jc. Oosterwijk et al., REFINEMENT OF THE LOCALIZATION OF THE X-LINKED KERATOSIS-FOLLICULARISSPINULOSA DECALVANS (KFSD) GENE IN XP22.13-P22.2, Journal of Medical Genetics, 32(9), 1995, pp. 736-739
HETEROZYGOSITY FOR HBC [B6(A3)GLU-]LYS] COMBINED WITH THE ALPHA,- -,-THALASSEMIC GENOTYPE IN CREOLE PATIENT FROM SURINAM/
Authors: TERPSTRA W GIORDANO PC LOSEKOOT M HARTEVELD CL PLUG RJ VANDERWIELEN MJR BERNINI LF MICHIELS JJ
Citation: W. Terpstra et al., HETEROZYGOSITY FOR HBC [B6(A3)GLU-]LYS] COMBINED WITH THE ALPHA,- -,-THALASSEMIC GENOTYPE IN CREOLE PATIENT FROM SURINAM/, Blood, 86(10), 1995, pp. 2610-2610
FINE MAPPING OF KERATOSIS SPINULOSA DECALVANS (KFSD) IN XP22
Authors: DENDUNNEN JT VANDERWIELEN MJR VOORHOEVE E BAKKER E VANOMMEN GJB OOSTERWIJK JC
Citation: Jt. Dendunnen et al., FINE MAPPING OF KERATOSIS SPINULOSA DECALVANS (KFSD) IN XP22, Cytogenetics and cell genetics, 67(4), 1994, pp. 336-336
ANALYSIS OF THE EXPANDING (CAG)N REPEAT IN THE DUTCH HUNTINGTONS-DISEASE PATIENT POPULATION
Authors: DEROOIJ KE LOSEKOOT M GANS PAMD BELFROID RDM VANDERWIELEN MJR SKRAASTAD MI VEGTERVANDERVLIS M ROOS RAC BAKKER E DENDUNNEN JT VANOMMEN GJB
Citation: Ke. Derooij et al., ANALYSIS OF THE EXPANDING (CAG)N REPEAT IN THE DUTCH HUNTINGTONS-DISEASE PATIENT POPULATION, Cytogenetics and cell genetics, 66(4), 1994, pp. 233-234
ANALYSIS OF THE EXPANDING CAG-REPEAT IN THE DUTCH HUNTINGTONS-DISEASEPATIENT POPULATION
Authors: DEROOIJ KE LOSEKOOT M GANS PAMD BELFROID RDM VANDERWIELEN MJR SKRAASTAD MI VEGTERVANDERVLIS M ROOS RAC BAKKER E DENDUNNEN JT VANOMMEN GJB
Citation: Ke. Derooij et al., ANALYSIS OF THE EXPANDING CAG-REPEAT IN THE DUTCH HUNTINGTONS-DISEASEPATIENT POPULATION, American journal of human genetics, 53(3), 1993, pp. 1247-1247
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