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Results: 1-25 | 26-50 | 51-75 | 76-97 |
Results: 76-97/97
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
LOCALIZATION OF A NEW-TYPE OF X-LINKED LIVER GLYCOGENOSIS TO THE CHROMOSOMAL REGION XP22 CONTAINING THE LIVER ALPHA-SUBUNIT OF PHOSPHORYLASE-KINASE (PHKA2)
Authors: HENDRICKX J COUCKE P HORSCAYLA MC SMIT GPA SHIN YS DEUTSCH J SMEITINK J BERGER R LEE P FERNANDES J WILLEMS PJ
Citation: J. Hendrickx et al., LOCALIZATION OF A NEW-TYPE OF X-LINKED LIVER GLYCOGENOSIS TO THE CHROMOSOMAL REGION XP22 CONTAINING THE LIVER ALPHA-SUBUNIT OF PHOSPHORYLASE-KINASE (PHKA2), Genomics, 21(3), 1994, pp. 620-625
APPARENT REGRESSION OF THE CGG REPEAT IN FMR1 TO AN ALLELE OF NORMAL SIZE
Authors: VITS L DEBOULLE K REYNIERS E HANDIG I DARBY JK OOSTRA B WILLEMS PJ
Citation: L. Vits et al., APPARENT REGRESSION OF THE CGG REPEAT IN FMR1 TO AN ALLELE OF NORMAL SIZE, Human genetics, 94(5), 1994, pp. 523-526
FMR1 KNOCKOUT MICE - A MODEL TO STUDY FRAGILE-X MENTAL-RETARDATION
Authors: BAKKER CE VERHEIJ C WILLEMSEN R VANDERHELM R OERLEMANS F VERMEY M BYGRAVE A HOOGEVEEN AT OOSTRA BA REYNIERS E DEBOULLE K DHOOGE R CRAS P VANVELZEN D NAGELS G MARTIN JJ DEDEYN PP DARBY JK WILLEMS PJ
Citation: Ce. Bakker et al., FMR1 KNOCKOUT MICE - A MODEL TO STUDY FRAGILE-X MENTAL-RETARDATION, Cell, 78(1), 1994, pp. 23-33
LINKAGE OF AUTOSOMAL-DOMINANT HEARING-LOSS TO THE SHORT ARM OF CHROMOSOME-1 IN 2 FAMILIES
Authors: COUCKE P VANCAMP G DJOYODIHARJO B SMITH SD FRANTS RR PADBERG GW DARBY JK HUIZING EH CREMERS CWRJ KIMBERLING WJ OOSTRA BA VANDEHEYNING PH WILLEMS PJ
Citation: P. Coucke et al., LINKAGE OF AUTOSOMAL-DOMINANT HEARING-LOSS TO THE SHORT ARM OF CHROMOSOME-1 IN 2 FAMILIES, The New England journal of medicine, 331(7), 1994, pp. 425-431
VARIABLE REGIONS OF CHROMOSOME-11 LOSS IN DIFFERENT PATHOLOGICAL TISSUES OF A PATIENT WITH THE MULTIPLE ENDOCRINE NEOPLASIA TYPE-I SYNDROME
Authors: BECKERS A ABS R REYNIERS E DEBOULLE K STEVENAERT A HELLER FR KLOPPEL G MEURISSE M WILLEMS PJ
Citation: A. Beckers et al., VARIABLE REGIONS OF CHROMOSOME-11 LOSS IN DIFFERENT PATHOLOGICAL TISSUES OF A PATIENT WITH THE MULTIPLE ENDOCRINE NEOPLASIA TYPE-I SYNDROME, The Journal of clinical endocrinology and metabolism, 79(5), 1994, pp. 1498-1502
X-LINKED LIVER GLYCOGENOSIS - FROM PATIENT TO GENE
Authors: WILLEMS PJ HENDRICKX J
Citation: Pj. Willems et J. Hendrickx, X-LINKED LIVER GLYCOGENOSIS - FROM PATIENT TO GENE, American journal of human genetics, 55(3), 1994, pp. 10000004-10000004
ON AN AUTOSOMAL-DOMINANT FORM OF RETINAL-CEREBELLAR DEGENERATION - ANAUTOPSY STUDY OF 5 PATIENTS IN ONE FAMILY
Authors: MARTIN JJ VANREGEMORTER N KROLS L BRUCHER JM DEBARSY T SZLIWOWSKI H EVRARD P CEUTERICK C TASSIGNON MJ SMETDIELEMAN H HAYEZDELATTE F WILLEMS PJ VANBROECKHOVEN C
Citation: Jj. Martin et al., ON AN AUTOSOMAL-DOMINANT FORM OF RETINAL-CEREBELLAR DEGENERATION - ANAUTOPSY STUDY OF 5 PATIENTS IN ONE FAMILY, Acta Neuropathologica, 88(4), 1994, pp. 277-286
A DUPLICATION IN THE L1CAM GENE ASSOCIATED WITH X-LINKED HYDROCEPHALUS
Authors: VANCAMP G VITS L COUCKE P LYONNET S SCHRANDERSTUMPEL C DARBY J HOLDEN J MUNNICH A WILLEMS PJ
Citation: G. Vancamp et al., A DUPLICATION IN THE L1CAM GENE ASSOCIATED WITH X-LINKED HYDROCEPHALUS, Nature genetics, 4(4), 1993, pp. 421-425
IDENTIFICATION OF A COMMON MUTATION IN THE CARNITINE PALMITOYLTRANSFERASE II GENE IN FAMILIAL RECURRENT MYOGLOBINURIA PATIENTS
Authors: TARONI F VERDERIO E DWORZAK F WILLEMS PJ CAVADINI P DIDONATO S
Citation: F. Taroni et al., IDENTIFICATION OF A COMMON MUTATION IN THE CARNITINE PALMITOYLTRANSFERASE II GENE IN FAMILIAL RECURRENT MYOGLOBINURIA PATIENTS, Nature genetics, 4(3), 1993, pp. 314-319
THE FULL MUTATION IN THE FMR-1 GENE OF MALE FRAGILE-X PATIENTS IS ABSENT IN THEIR SPERM
Authors: REYNIERS E VITS L DEBOULLE K VANROY B VANVELZEN D DEGRAAFF E VERKERK AJMH JORENS HZJ DARBY JK OOSTRA B WILLEMS PJ
Citation: E. Reyniers et al., THE FULL MUTATION IN THE FMR-1 GENE OF MALE FRAGILE-X PATIENTS IS ABSENT IN THEIR SPERM, Nature genetics, 4(2), 1993, pp. 143-146
6 ADDITIONAL MUTATIONS IN FUCOSIDOSIS - 3 NONSENSE MUTATIONS AND 3 FRAMESHIFT MUTATIONS
Authors: SEO HC WILLEMS PJ OBRIEN JS
Citation: Hc. Seo et al., 6 ADDITIONAL MUTATIONS IN FUCOSIDOSIS - 3 NONSENSE MUTATIONS AND 3 FRAMESHIFT MUTATIONS, Human molecular genetics, 2(8), 1993, pp. 1205-1208
ALTERNATIVE SPLICING IN THE FRAGILE X-GENE FMR1 (VOL 2, PG 399, 1993)
Authors: VERKERK AJMH DEGRAAFF E DEBOULLE K EICHLER EE KONECKI DS REYNIERS E MANCA A POUSTKA A WILLEMS PJ NELSON DL OOSTRA BA
Citation: Ajmh. Verkerk et al., ALTERNATIVE SPLICING IN THE FRAGILE X-GENE FMR1 (VOL 2, PG 399, 1993), Human molecular genetics, 2(8), 1993, pp. 1348-1348
X-LINKED LIVER GLYCOGENOSIS - LOCALIZATION AND ISOLATION OF A CANDIDATE GENE
Authors: HENDRICKX J COUCKE P BOSSUYT P WAUTERS J RAEYMAEKERS P MARCHAU F PETER G SMIT A STOLTE I SARDHARWALLA IB BERTHELOT J VANDENBERGH I BERGER R VANBROECKHOVEN C BAUSSAN C WAPENAAR M FERNANDES J WILLEMS PJ
Citation: J. Hendrickx et al., X-LINKED LIVER GLYCOGENOSIS - LOCALIZATION AND ISOLATION OF A CANDIDATE GENE, Human molecular genetics, 2(5), 1993, pp. 583-589
AN ECORI RFLP IN THE 5' REGION OF THE HUMAN NF1 GENE
Authors: REYNIERS E DEBOULLE K MARCHUK DA ANDERSEN LB COLLINS FS WILLEMS PJ
Citation: E. Reyniers et al., AN ECORI RFLP IN THE 5' REGION OF THE HUMAN NF1 GENE, Human genetics, 92(6), 1993, pp. 631-631
FOUNDER EFFECT IN A BELGIAN-DUTCH FRAGILE-X POPULATION
Authors: BUYLE S REYNIERS E VITS L DEBOULLE K HANDIG I WUYTS FLE DEELEN W HALLEY DJJ OOSTRA BA WILLEMS PJ
Citation: S. Buyle et al., FOUNDER EFFECT IN A BELGIAN-DUTCH FRAGILE-X POPULATION, Human genetics, 92(3), 1993, pp. 269-272
MULTIPLE PTERYGIUM SYNDROME WITH BODY ASYMMETRY
Authors: WILLEMS PJ COLPAERT C VAERENBERGH M VANTHIENEN MN PARIZEL PM VANMARCK E SCHUERWEGH WH MARTIN JJ
Citation: Pj. Willems et al., MULTIPLE PTERYGIUM SYNDROME WITH BODY ASYMMETRY, American journal of medical genetics, 47(1), 1993, pp. 106-111
THE ASSOCIATION OF MENINGIOMA AND PITUITARY-ADENOMA - REPORT OF 7 CASES AND REVIEW OF THE LITERATURE
Authors: ABS R PARIZEL PM WILLEMS PJ VANDEKELFT E VERLOOY J MAHLER C VERHELST J VANMARCK E MARTIN JJ
Citation: R. Abs et al., THE ASSOCIATION OF MENINGIOMA AND PITUITARY-ADENOMA - REPORT OF 7 CASES AND REVIEW OF THE LITERATURE, European neurology, 33(6), 1993, pp. 416-422
A 2ND WAARDENBURG SYNDROME GENE ON CHROMOSOME-13Q
Authors: HANDIG I VANCAMP G VANTIENEN MN VANROY B READ A WILLEMS PJ
Citation: I. Handig et al., A 2ND WAARDENBURG SYNDROME GENE ON CHROMOSOME-13Q, American journal of human genetics, 53(3), 1993, pp. 1011-1011
MUTATIONS IN THE L1CAM GENE ARE RESPONSIBLE FOR X-LINKED HYDROCEPHALUS AND MASA SYNDROME
Authors: VANCAMP G VITS L COUCKE P WILLEMS PJ
Citation: G. Vancamp et al., MUTATIONS IN THE L1CAM GENE ARE RESPONSIBLE FOR X-LINKED HYDROCEPHALUS AND MASA SYNDROME, American journal of human genetics, 53(3), 1993, pp. 1244-1244
LINKAGE EXCLUSION BETWEEN HIGH-FREQUENCY AUTOSOMAL-DOMINANT DEAFNESS AND CHROMOSOME-5Q IN A LARGE INDONESIAN KINDRED
Authors: COUCKE P VANCAMP G DJOYODIHARJO B VANDEHEYNING PH WILLEMS PJ
Citation: P. Coucke et al., LINKAGE EXCLUSION BETWEEN HIGH-FREQUENCY AUTOSOMAL-DOMINANT DEAFNESS AND CHROMOSOME-5Q IN A LARGE INDONESIAN KINDRED, American journal of human genetics, 53(3), 1993, pp. 1691-1691
MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY - THE PREVALENTMUTATION G985 (K304E) IS SUBJECT TO A STRONG FOUNDER EFFECT FROM NORTHWESTERN EUROPE
Authors: GREGERSEN N WINTER V CURTIS D DEUFEL T MACK M HENDRICKX J WILLEMS PJ PONZONE A PARELLA T PONZONE R DING JH ZHANG W CHEN YT KAHLER S ROE CR KOLVRAA S SCHNEIDERMAN K ANDRESEN BS BROSS P BOLUND L
Citation: N. Gregersen et al., MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY - THE PREVALENTMUTATION G985 (K304E) IS SUBJECT TO A STRONG FOUNDER EFFECT FROM NORTHWESTERN EUROPE, Human heredity, 43(6), 1993, pp. 342-350
Risultati: 1-25 | 26-50 | 51-75 | 76-97 |