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Results: 1-17 |
Results: 17
THE FRAGILE-X-SYNDROME
Authors: DEVRIES BBA HALLEY DJJ OOSTRA BA NIERMEIJER MF
Citation: Bba. Devries et al., THE FRAGILE-X-SYNDROME, Journal of Medical Genetics, 35(7), 1998, pp. 579-589
SKELETAL DYSPLASIAS
Authors: BROOK CGD DEVRIES BBA
Citation: Cgd. Brook et Bba. Devries, SKELETAL DYSPLASIAS, Archives of Disease in Childhood, 79(3), 1998, pp. 285-289
DNA TESTING FOR FRAGILE-X-SYNDROME - IMPLICATIONS FOR PARENTS AND FAMILY
Authors: VANRIJN MA DEVRIES BBA TIBBEN A VANDENOUWELAND AMW HALLEY DJJ NIERMEIJER MF
Citation: Ma. Vanrijn et al., DNA TESTING FOR FRAGILE-X-SYNDROME - IMPLICATIONS FOR PARENTS AND FAMILY, Journal of Medical Genetics, 34(11), 1997, pp. 907-911
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
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
POSITIONAL CLONING OF A GENE INVOLVED IN HEREDITARY MULTIPLE EXOSTOSES
Authors: WUYTS W VANHUL W WAUTERS J NEMTSOVA M REYNIERS E VANHUL E DEBOULLE K DEVRIES BBA HENDRICKX J HERRYGERS I BOSSUYT P BALEMANS W FRANSEN E VITS L COUCKE P NOWAK NJ SHOWS TB MALLET L VANDENOUWELAND AMW MCGAUGHRAN J HALLEY DJJ WILLEMS PJ
Citation: W. Wuyts et al., POSITIONAL CLONING OF A GENE INVOLVED IN HEREDITARY MULTIPLE EXOSTOSES, Human molecular genetics, 5(10), 1996, pp. 1547-1557
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
ACCEPTANCE OF SCREENING FOR THE FRAGILE-X-SYNDROME AMONG 1878 MENTALLY-RETARDED INDIVIDUALS IN INSTITUTIONS AND SPECIAL-SCHOOLS IN THE NETHERLANDS
Authors: DEVRIES BBA VANDENOUWELAND AMW MOHKAMSING S HALLEY DJJ TIBBEN A OOSTRA BA GALJAARD H NIERMEIJER MF
Citation: Bba. Devries et al., ACCEPTANCE OF SCREENING FOR THE FRAGILE-X-SYNDROME AMONG 1878 MENTALLY-RETARDED INDIVIDUALS IN INSTITUTIONS AND SPECIAL-SCHOOLS IN THE NETHERLANDS, American journal of medical genetics, 64(1), 1996, pp. 20-20
MENTAL STATUS AND FMR1 GENE MUTATION IN FEMALES
Authors: DEVRIES BBA WIEGERS AM SMITS APT FRYNS JP CURFS LMG VANOOST BA HALLEY DJJ OOSTRA BA VANDENOUWELAND AMW NIERMEIJER MF
Citation: Bba. Devries et al., MENTAL STATUS AND FMR1 GENE MUTATION IN FEMALES, American journal of medical genetics, 64(1), 1996, pp. 20-20
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
MENTAL STATUS OF FEMALES WITH AN FMR1 GENE FULL MUTATION
Authors: DEVRIES BBA WIEGERS AM SMITS APT MOHKAMSING S DUIVENVOORDEN HJ FRYNS JP CURFS LMG HALLEY DJJ OOSTRA BA VANDENOUWELAND AMW NIERMEIJER MF
Citation: Bba. Devries et al., MENTAL STATUS OF FEMALES WITH AN FMR1 GENE FULL MUTATION, American journal of human genetics, 58(5), 1996, pp. 1025-1032
GENERAL OVERGROWTH IN THE FRAGILE-X SYNDROME - VARIABILITY IN THE PHENOTYPIC-EXPRESSION OF THE FMR1 GENE MUTATION
Authors: DEVRIES BBA ROBINSON H STOLTEDIJKSTRA I GI CVTP DIJKSTRA PF VANDOOM J HALLEY DJJ OOSTRA BA TURNER G NIERMEIJER MF
Citation: Bba. Devries et al., GENERAL OVERGROWTH IN THE FRAGILE-X SYNDROME - VARIABILITY IN THE PHENOTYPIC-EXPRESSION OF THE FMR1 GENE MUTATION, Journal of Medical Genetics, 32(10), 1995, pp. 764-769
ACCEPTANCE OF SCREENING FOR THE FRAGILE-X SYNDROME AMONG 1878 MENTALLY-RETARDED INDIVIDUALS IN INSTITUTES AND SPECIAL SCHOOLS IN THE NETHERLANDS
Authors: DEVRIES BBA VANDENOUWELAND AMW MOHKAMSING S HALLEY DJJ TIBBEN A OOSTRA BA GALJAARD H NIERMEIJER MF
Citation: Bba. Devries et al., ACCEPTANCE OF SCREENING FOR THE FRAGILE-X SYNDROME AMONG 1878 MENTALLY-RETARDED INDIVIDUALS IN INSTITUTES AND SPECIAL SCHOOLS IN THE NETHERLANDS, American journal of human genetics, 57(4), 1995, pp. 1705-1705
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
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
THE PRADER-WILLI-LIKE PHENOTYPE IN FRAGILE-X PATIENTS - A DESIGNATIONFACILITATING CLINICAL (AND MOLECULAR) DIFFERENTIAL-DIAGNOSIS
Authors: DEVRIES BBA NIERMEIJER MF
Citation: Bba. Devries et Mf. Niermeijer, THE PRADER-WILLI-LIKE PHENOTYPE IN FRAGILE-X PATIENTS - A DESIGNATIONFACILITATING CLINICAL (AND MOLECULAR) DIFFERENTIAL-DIAGNOSIS, Journal of Medical Genetics, 31(10), 1994, pp. 820-820
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
Risultati: 1-17 |