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Results: 1-16 |
Results: 16
CHROMOSOME-STUDIES IN 1792 MALES PRIOR TO INTRA-CYTOPLASMIC SPERM INJECTION - THE DUTCH EXPERIENCE
Authors: TUERLINGS JHAM DEFRANCE HF HAMERS A HORDIJK R VANHEMEL JO HANSSON K HOOVERS JMN MADAN K VANDERBLIJPHILIPSEN M GERSSENSCHOORL KBJ KREMER JAM SMEETS DFCM
Citation: Jham. Tuerlings et al., CHROMOSOME-STUDIES IN 1792 MALES PRIOR TO INTRA-CYTOPLASMIC SPERM INJECTION - THE DUTCH EXPERIENCE, European journal of human genetics, 6(3), 1998, pp. 194-200
2 CASES OF ROBERTSONIAN TRANSLOCATIONS IN OLIGOZOOSPERMIC MALES AND THEIR CONSEQUENCES FOR PREGNANCIES INDUCED BY INTRACYTOPLASMIC SPERM INJECTION
Authors: TVELD PAI WEBER RFA LOS FJ DENHOLLANDER N DHONT M PIETERS MHEC VANHEMEL JO
Citation: Pai. Tveld et al., 2 CASES OF ROBERTSONIAN TRANSLOCATIONS IN OLIGOZOOSPERMIC MALES AND THEIR CONSEQUENCES FOR PREGNANCIES INDUCED BY INTRACYTOPLASMIC SPERM INJECTION, Human reproduction, 12(8), 1997, pp. 1642-1644
DETERMINATION OF THE PARENT OF ORIGIN IN 9 CASES OF PRENATALLY DETECTED CHROMOSOME-ABERRATIONS FOUND AFTER INTRACYTOPLASMIC SPERM INJECTION
Authors: VANOPSTAL D LOS FJ RAMLAKHAN S VANHEMEL JO VANDENOUWELAND AMW BRANDENBURG H PIETERS MHEC VERHOEFF A VERMEER MCS DHONT M INTVELD PA
Citation: D. Vanopstal et al., DETERMINATION OF THE PARENT OF ORIGIN IN 9 CASES OF PRENATALLY DETECTED CHROMOSOME-ABERRATIONS FOUND AFTER INTRACYTOPLASMIC SPERM INJECTION, Human reproduction, 12(4), 1997, pp. 682-686
GENETIC-COUNSELING BEFORE INTRACYTOPLASMIC SPERM INJECTION
Authors: VELD PAI HALLEY DJJ VANHEMEL JO NIERMEIJER MF DOHLE G WEBER RFA
Citation: Pai. Veld et al., GENETIC-COUNSELING BEFORE INTRACYTOPLASMIC SPERM INJECTION, Lancet, 350(9076), 1997, pp. 490-490
THE FRAGILE-X PHENOTYPE IN A MOSAIC MALE WITH A DELETION SHOWING EXPRESSION OF THE FMR1 PROTEIN IN 28-PERCENT OF THE CELLS
Authors: DEGRAAFF E DEVRIES BBA WILLEMSEN R VANHEMEL JO MOHKAMSING S OOSTRA BA VANDENOUWELAND AMW
Citation: E. Degraaff et al., THE FRAGILE-X PHENOTYPE IN A MOSAIC MALE WITH A DELETION SHOWING EXPRESSION OF THE FMR1 PROTEIN IN 28-PERCENT OF THE CELLS, American journal of medical genetics, 64(2), 1996, pp. 302-308
VARIABLE FMR1 GENE METHYLATION OF LARGE EXPANSIONS LEADS TO VARIABLE PHENOTYPE IN 3 MALES FROM ONE FRAGILE-X FAMILY
Authors: DEVRIES BBA JANSEN CCAM DUITS AA VERHEIJ C WILLEMSEN R VANHEMEL JO VANDENOUWELAND AMW NIERMEIJER MF OOSTRA BA HALLEY DJJ
Citation: Bba. Devries et al., VARIABLE FMR1 GENE METHYLATION OF LARGE EXPANSIONS LEADS TO VARIABLE PHENOTYPE IN 3 MALES FROM ONE FRAGILE-X FAMILY, Journal of Medical Genetics, 33(12), 1996, pp. 1007-1010
DNA DIAGNOSIS OF PRADER-WILLI AND ANGELMAN SYNDROMES WITH THE PROBE PW71 (D15S63)
Authors: VANDENOUWELAND AMW VANDEREST MN WESBYVANSWAAY E TIJMENSEN TSLN LOS FJ VANHEMEL JO HENNEKAM RCM MEIJERSHEIJBOER HJ NIERMEIJER MF HALLEY DJJ
Citation: Amw. Vandenouweland et al., DNA DIAGNOSIS OF PRADER-WILLI AND ANGELMAN SYNDROMES WITH THE PROBE PW71 (D15S63), Human genetics, 95(5), 1995, pp. 562-567
A CHROMOSOME 21-SPECIFIC COSMID COCKTAIL FOR THE DETECTION OF CHROMOSOME-21 ABERRATIONS IN INTERPHASE NUCLEI
Authors: VANOPSTAL D VANHEMEL JO EUSSEN BHJ VANDERHEIDE A VANDENBERG C TVELD PAI LOS FJ
Citation: D. Vanopstal et al., A CHROMOSOME 21-SPECIFIC COSMID COCKTAIL FOR THE DETECTION OF CHROMOSOME-21 ABERRATIONS IN INTERPHASE NUCLEI, Prenatal diagnosis, 15(8), 1995, pp. 705-711
RECURRENCE OF DIGEORGE-SYNDROME - PRENATAL DETECTION BY FISH OF A MOLECULAR 22Q11 DELETION
Authors: VANHEMEL JO SCHAAP C VANOPSTAL D MULDER MP NIERMEIJER MF MEIJERS JHC
Citation: Jo. Vanhemel et al., RECURRENCE OF DIGEORGE-SYNDROME - PRENATAL DETECTION BY FISH OF A MOLECULAR 22Q11 DELETION, Journal of Medical Genetics, 32(8), 1995, pp. 657-658
DNA DIAGNOSIS OF TUBEROUS SCLEROSIS COMPLEX PATIENTS
Authors: VANDENOUWELAND AMW VERHOEF S VRTEL R VANHEMEL JO EUSSEN BE BAKKER PLG NELLIST M LINDHOUT D HALLEY DJJ
Citation: Amw. Vandenouweland et al., DNA DIAGNOSIS OF TUBEROUS SCLEROSIS COMPLEX PATIENTS, American journal of human genetics, 57(4), 1995, pp. 1336-1336
DNA DIAGNOSIS OF THE FRAGILE-X-SYNDROME IN A SERIES OF 236 MENTALLY-RETARDED SUBJECTS AND EVIDENCE FOR A REVERSAL OF MUTATION IN THE FMR-1 GENE
Authors: VANDENOUWELAND AMW DEVRIES BBA BAKKER PLG DEELEN WH DEGRAAFF E VANHEMEL JO OOSTRA BA NIERMEIJER MF HALLEY DJJ
Citation: Amw. Vandenouweland et al., DNA DIAGNOSIS OF THE FRAGILE-X-SYNDROME IN A SERIES OF 236 MENTALLY-RETARDED SUBJECTS AND EVIDENCE FOR A REVERSAL OF MUTATION IN THE FMR-1 GENE, American journal of medical genetics, 51(4), 1994, pp. 482-485
DE-NOVO DELETION (2) (P11.2P13) - CLINICAL, CYTOGENETIC, AND IMMUNOLOGICAL DATA
Authors: LOS FJ VANHEMEL JO JACOBS HJJ DROP SLS VANDONGEN JJM
Citation: Fj. Los et al., DE-NOVO DELETION (2) (P11.2P13) - CLINICAL, CYTOGENETIC, AND IMMUNOLOGICAL DATA, Journal of Medical Genetics, 31(1), 1994, pp. 72-73
APPLICATION OF FLUORESCENT IN-SITU HYBRIDIZATION FOR DE-NOVO ANOMALIES IN PRENATAL-DIAGNOSIS
Authors: VANOPSTAL D EUSSEN HJ VANHEMEL JO SACHS ES
Citation: D. Vanopstal et al., APPLICATION OF FLUORESCENT IN-SITU HYBRIDIZATION FOR DE-NOVO ANOMALIES IN PRENATAL-DIAGNOSIS, Prenatal diagnosis, 13(9), 1993, pp. 825-832
FETAL ANEUPLOIDY DIAGNOSED BY FLUORESCENCE IN-SITU HYBRIDIZATION WITHIN 24 HOURS AFTER AMNIOCENTESIS
Authors: VANOPSTAL D VANHEMEL JO SACHS ES
Citation: D. Vanopstal et al., FETAL ANEUPLOIDY DIAGNOSED BY FLUORESCENCE IN-SITU HYBRIDIZATION WITHIN 24 HOURS AFTER AMNIOCENTESIS, Lancet, 342(8874), 1993, pp. 802-802
CLINICAL AND MOLECULAR STUDIES IN FRAGILE-X PATIENTS WITH A PRADER-WILLI-LIKE PHENOTYPE
Authors: DEVRIES BBA FRYNS JP BUTLER MG CANZIANI F WESBYVANSWAAY E VANHEMEL JO OOSTRA BA HALLEY DJJ NIERMEIJER MF
Citation: Bba. Devries et al., CLINICAL AND MOLECULAR STUDIES IN FRAGILE-X PATIENTS WITH A PRADER-WILLI-LIKE PHENOTYPE, Journal of Medical Genetics, 30(9), 1993, pp. 761-766
MOLECULAR-DETECTION OF A TRANSLOCATION (Y 11)(Q11.2 Q24) IN A 45,X MALE WITH SIGNS OF JACOBSEN SYNDROME
Authors: VANHEMEL JO EUSSEN B WESBYVANSWAAY E OOSTRA BA
Citation: Jo. Vanhemel et al., MOLECULAR-DETECTION OF A TRANSLOCATION (Y 11)(Q11.2 Q24) IN A 45,X MALE WITH SIGNS OF JACOBSEN SYNDROME, Human genetics, 88(6), 1992, pp. 661-667
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