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Results: 1-25 | 26-50 | 51-75 | 76-97
Results: 1-25/97
NONSYNDROMIC HEARING IMPAIRMENT IS ASSOCIATED WITH A MUTATION IN DFNA5
Authors: VANLAER L HUIZING EH VERSTREKEN M VANZUIJLEN D WAUTERS JG BOSSUYT PJ VANDEHEYNING P MCGUIRT WT SMITH RJH WILLEMS PJ LEGAN PK RICHARDSON GP VANCAMP G
Citation: L. Vanlaer et al., NONSYNDROMIC HEARING IMPAIRMENT IS ASSOCIATED WITH A MUTATION IN DFNA5, Nature genetics, 20(2), 1998, pp. 194-197
MUTATIONS IN THE HUMAN ALPHA-TECTORIN GENE CAUSE AUTOSOMAL-DOMINANT NON-SYNDROMIC HEARING IMPAIRMENT
Authors: VERHOEVEN K VANLAER L KIRSCHHOFER K LEGAN PK HUGHES DC SCHATTEMAN I VERSTREKEN M VANHAUWE P COUCKE P CHEN A SMITH RJH SOMERS T OFFECIERS FE VANDEHEYNING P RICHARDSON GP WACHTLER F KIMBERLING WT WILLEMS PJ GOVAERTS PJ VANCAMP G
Citation: K. Verhoeven et al., MUTATIONS IN THE HUMAN ALPHA-TECTORIN GENE CAUSE AUTOSOMAL-DOMINANT NON-SYNDROMIC HEARING IMPAIRMENT, Nature genetics, 19(1), 1998, pp. 60-62
EVIDENCE FOR SOMATIC AND GERMLINE MOSAICISM IN CRASH SYNDROME
Authors: VITS L CHITAYAT D VANCAMP G HOLDEN JJA FRANSEN E WILLEMS PJ
Citation: L. Vits et al., EVIDENCE FOR SOMATIC AND GERMLINE MOSAICISM IN CRASH SYNDROME, Human mutation, 1998, pp. 284-287
IDENTIFICATION OF 10 NOVEL MUTATIONS IN THE PDS GENE RESPONSIBLE FOR PENDRED-SYNDROME
Authors: VANHAUWE P EVERETT L COUCKE P CHEN A RIS C BOLDER C OTTEN B DEVIJLDER J SMITH RJH WILLEMS PJ CREMERS CWRJ GREEN ED VANCAMP G
Citation: P. Vanhauwe et al., IDENTIFICATION OF 10 NOVEL MUTATIONS IN THE PDS GENE RESPONSIBLE FOR PENDRED-SYNDROME, European journal of human genetics, 6, 1998, pp. 205-205
MRI AS A TOOL TO STUDY BRAIN STRUCTURE FROM MOUSE MODELS OF MENTAL-RETARDATION
Authors: KOOY F REYNIERS E VERHOYE M SIJBERS J FRANSEN E OOSTRA BA WILLEMS PJ VANDERLINDEN A
Citation: F. Kooy et al., MRI AS A TOOL TO STUDY BRAIN STRUCTURE FROM MOUSE MODELS OF MENTAL-RETARDATION, European journal of human genetics, 6, 1998, pp. 306-306
NON-SYNDROMIC DEAFNESS DFNA12 IS CAUSED BY MUTATIONS IN ALPHA-TECTORIN
Authors: VERHOEVEN K VANLAER L KIRSCHHOFER K LEGAN K HUGHES D VERSTREKEN M GOVAERTS PJ SCHATTEMAN I VANHAUWE P SMITH RJH VANDEHEYNING P WACHTLER F KIMBERLING B WILLEMS PJ VANCAMP G
Citation: K. Verhoeven et al., NON-SYNDROMIC DEAFNESS DFNA12 IS CAUSED BY MUTATIONS IN ALPHA-TECTORIN, European journal of human genetics, 6, 1998, pp. 504-504
L1 KNOCKOUT MICE SHOW DILATED VENTRICLES, VERMIS HYPOPLASIA AND IMPAIRED EXPLORATION PATTERNS
Authors: FRANSEN E DHOOGE R KOOY RF VANCAMP G VANDERLINDEN A DEDEYN P WILLEMS PJ
Citation: E. Fransen et al., L1 KNOCKOUT MICE SHOW DILATED VENTRICLES, VERMIS HYPOPLASIA AND IMPAIRED EXPLORATION PATTERNS, European journal of human genetics, 6, 1998, pp. 1075-1075
2 FREQUENT MISSENSE MUTATIONS IN PENDRED-SYNDROME
Authors: VANHAUWE P EVERETT LA COUCKE P SCOTT DA KRAFT ML RISSTALPERS C BOLDER C OTTEN B DEVIJLDER JJM DIETRICH NL RAMESH A SRISAILAPATHY SCR PARVING A CREMERS CWRJ WILLEMS PJ SMITH RJH GREEN ED VANCAMP G
Citation: P. Vanhauwe et al., 2 FREQUENT MISSENSE MUTATIONS IN PENDRED-SYNDROME, Human molecular genetics (Print), 7(7), 1998, pp. 1099-1104
L1 KNOCKOUT MICE SHOW DILATED VENTRICLES, VERMIS HYPOPLASIA AND IMPAIRED EXPLORATION PATTERNS
Authors: FRANSEN E DHOOGE R VANCAMP G VERHOYE M SIJBERS J REYNIERS E SORIANO P KAMIGUCHI H WILLEMSEN R KOEKKOEK SKE DEZEEUW CI DEDEYN PP VANDERLINDEN A LEMMON V KOOY RF WILLEMS PJ
Citation: E. Fransen et al., L1 KNOCKOUT MICE SHOW DILATED VENTRICLES, VERMIS HYPOPLASIA AND IMPAIRED EXPLORATION PATTERNS, Human molecular genetics, 7(6), 1998, pp. 999-1009
LOCALIZATION OF A GENE FOR OTOSCLEROSIS TO CHROMOSOME 15Q25-Q26
Authors: TOMEK MS BROWN MR MANI SR RAMESH A SRISAILAPATHY CRS COUCKE P ZBAR RIS BELL AM MCGUIRT WT FUKUSHIMA K WILLEMS PJ VANCAMP G SMITH RJH
Citation: Ms. Tomek et al., LOCALIZATION OF A GENE FOR OTOSCLEROSIS TO CHROMOSOME 15Q25-Q26, Human molecular genetics, 7(2), 1998, pp. 285-290
NO EVIDENCE FOR DISRUPTION OF NORMAL PATTERNS OF MESSENGER-RNA LOCALIZATION IN DENDRITES OR DENDRITIC TRANSPORT OF RECENTLY SYNTHESIZED MESSENGER-RNA IN FMR1 KNOCKOUT MICE, A MODEL FOR HUMAN FRAGILE-X MENTAL-RETARDATION SYNDROME
Authors: STEWARD O BAKKER CE WILLEMS PJ OOSTRA BA
Citation: O. Steward et al., NO EVIDENCE FOR DISRUPTION OF NORMAL PATTERNS OF MESSENGER-RNA LOCALIZATION IN DENDRITES OR DENDRITIC TRANSPORT OF RECENTLY SYNTHESIZED MESSENGER-RNA IN FMR1 KNOCKOUT MICE, A MODEL FOR HUMAN FRAGILE-X MENTAL-RETARDATION SYNDROME, NeuroReport, 9(3), 1998, pp. 477-481
IDENTIFICATION OF A 3RD EXT-LIKE GENE (EXTL3) BELONGING TO THE EXT GENE FAMILY
Authors: VANHUL W WUYTS W HENDRICKX J SPELEMAN F WAUTERS J DEBOULLE K VANROY N BOSSUYT P WILLEMS PJ
Citation: W. Vanhul et al., IDENTIFICATION OF A 3RD EXT-LIKE GENE (EXTL3) BELONGING TO THE EXT GENE FAMILY, Genomics, 47(2), 1998, pp. 230-237
EARLY-ONSET SENSORINEURAL HEARING-LOSS AND LATE-ONSET NEUROLOGIC COMPLAINTS CAUSED BY A MITOCHONDRIAL MUTATION AT POSITION-74-72
Authors: ENSINK RJH VERHOEVEN K MARRES HAM HUYGEN PLM PADBERG GW TERLAAK H VANCAMP G WILLEMS PJ CREMERS CWRJ
Citation: Rjh. Ensink et al., EARLY-ONSET SENSORINEURAL HEARING-LOSS AND LATE-ONSET NEUROLOGIC COMPLAINTS CAUSED BY A MITOCHONDRIAL MUTATION AT POSITION-74-72, Archives of otolaryngology, head & neck surgery, 124(8), 1998, pp. 886-891
INCOMPLETE ECORI DIGESTION MAY LEAD TO FALSE DIAGNOSIS OF FRAGILE-X-SYNDROME
Authors: STORM K HANDIG I REYNIERS E OOSTRA BA KOOY RF WILLEMS PJ
Citation: K. Storm et al., INCOMPLETE ECORI DIGESTION MAY LEAD TO FALSE DIAGNOSIS OF FRAGILE-X-SYNDROME, Human genetics, 102(1), 1998, pp. 54-56
GENOTYPE-PHENOTYPE CORRELATION IN L1 ASSOCIATED DISEASES
Authors: FRANSEN E VANCAMP G DHOOGE R VITS L WILLEMS PJ
Citation: E. Fransen et al., GENOTYPE-PHENOTYPE CORRELATION IN L1 ASSOCIATED DISEASES, Journal of Medical Genetics, 35(5), 1998, pp. 399-404
A MOROCCAN FAMILY WITH AUTOSOMAL RECESSIVE SENSORINEURAL HEARING-LOSSCAUSED BY A MUTATION IN THE GAP JUNCTION PROTEIN GENE CONNEXIN-26 (GJB2)
Authors: LENCH NJ MARKHAM AF MUELLER RF KELSELL DP SMITH RJH WILLEMS PJ SCHATTEMAN I CAPON H VANDEHEYNING PJ VANCAMP G
Citation: Nj. Lench et al., A MOROCCAN FAMILY WITH AUTOSOMAL RECESSIVE SENSORINEURAL HEARING-LOSSCAUSED BY A MUTATION IN THE GAP JUNCTION PROTEIN GENE CONNEXIN-26 (GJB2), Journal of Medical Genetics, 35(2), 1998, pp. 151-152
MUTATIONS IN THE EXT1 AND EXT2 GENES IN HEREDITARY MULTIPLE EXOSTOSES
Authors: WUYTS W VANHUL W DEBOULLE K HENDRICKX J BAKKER E VANHOENACKER F MOLLICA F LUDECKE HJ SAYLI BS PAZZAGLIA UE MORTIER G HAMEL B CONRAD EU MATSUSHITA M RASKIND WH WILLEMS PJ
Citation: W. Wuyts et al., MUTATIONS IN THE EXT1 AND EXT2 GENES IN HEREDITARY MULTIPLE EXOSTOSES, American journal of human genetics, 62(2), 1998, pp. 346-354
VAN-BUCHEM-DISEASE (HYPEROSTOSIS CORTICALIS GENERALISATA) MAPS TO CHROMOSOME 17Q12-Q21
Authors: VANHUL W BALEMANS W VANHUL E DIKKERS FG OBEE H STOKROOS RJ HILDERING P VANHOENACKER F VANCAMP G WILLEMS PJ
Citation: W. Vanhul et al., VAN-BUCHEM-DISEASE (HYPEROSTOSIS CORTICALIS GENERALISATA) MAPS TO CHROMOSOME 17Q12-Q21, American journal of human genetics, 62(2), 1998, pp. 391-399
IDENTIFICATION AND CHARACTERIZATION OF A NOVEL MEMBER OF THE EXT GENEFAMILY, EXTL2
Authors: WUYTS W VANHUL W HENDRICKX J SPELEMAN F WAUTERS J DEBOULLE K VANROY N VANAGTMAEL T BOSSUYT P WILLEMS PJ
Citation: W. Wuyts et al., IDENTIFICATION AND CHARACTERIZATION OF A NOVEL MEMBER OF THE EXT GENEFAMILY, EXTL2, European journal of human genetics, 5(6), 1997, pp. 382-389
ENDOTHELIN-3 GENE-MUTATIONS IN ISOLATED AND SYNDROMIC HIRSCHSPRUNG-DISEASE
Authors: BIDAUD C SALOMON R VANCAMP G PELET A ATTIE T ENG C BONDUELLE M AMIEL J NIHOULFEKETE C WILLEMS PJ MUNNICH A LYONNET S
Citation: C. Bidaud et al., ENDOTHELIN-3 GENE-MUTATIONS IN ISOLATED AND SYNDROMIC HIRSCHSPRUNG-DISEASE, European journal of human genetics, 5(4), 1997, pp. 247-251
L1-ASSOCIATED DISEASES - CLINICAL GENETICISTS DIVIDE, MOLECULAR GENETICISTS UNITE
Authors: FRANSEN E VANCAMP G VITS L WILLEMS PJ
Citation: E. Fransen et al., L1-ASSOCIATED DISEASES - CLINICAL GENETICISTS DIVIDE, MOLECULAR GENETICISTS UNITE, Human molecular genetics, 6(10), 1997, pp. 1625-1632
LINKAGE ANALYSIS OF PROGRESSIVE HEARING-LOSS IN 5 EXTENDED FAMILIES MAPS THE DFNA1 GENE TO A 1.25-MB REGION ON CHROMOSOME 1P
Authors: VANCAMP G COUCKE PJ KUNST H SCHATTEMAN I VANVELZEN D MARRES H VANEWIJK M DECLAU F VANHAUWE P MEYERS J KENYON J SMITH SD SMITH RJH DJELANTIK B CREMERS CWRJ VANDEHEYNING PH WILLEMS PJ
Citation: G. Vancamp et al., LINKAGE ANALYSIS OF PROGRESSIVE HEARING-LOSS IN 5 EXTENDED FAMILIES MAPS THE DFNA1 GENE TO A 1.25-MB REGION ON CHROMOSOME 1P, Genomics, 41(1), 1997, pp. 70-74
THE GENE FOR PENDRED SYNDROME IS LOCATED BETWEEN D7S501 AND D7S692 INA 1.7-CM REGION ON CHROMOSOME 7Q
Authors: COUCKE P VANCAMP G DEMIRHAN O KABAKKAYA Y BALEMANS W VANHAUWE P VANAGTMAEL T SMITH RJH PARVING A BOLDER CHHM CREMERS CWRJ WILLEMS PJ
Citation: P. Coucke et al., THE GENE FOR PENDRED SYNDROME IS LOCATED BETWEEN D7S501 AND D7S692 INA 1.7-CM REGION ON CHROMOSOME 7Q, Genomics, 40(1), 1997, pp. 48-54
LOCALIZATION OF A GENE FOR AUTOSOMAL-DOMINANT OSTEOPETROSIS (ALBERS-SCHONBERG-DISEASE) TO CHROMOSOME 1P21
Authors: VANHUL W BOLLERSLEV J GRAM J VANHUL E BENICHOU O WILLEMS PJ
Citation: W. Vanhul et al., LOCALIZATION OF A GENE FOR AUTOSOMAL-DOMINANT OSTEOPETROSIS (ALBERS-SCHONBERG-DISEASE) TO CHROMOSOME 1P21, Journal of bone and mineral research, 12, 1997, pp. 660-660
IDENTIFICATION OF THE EXT2 GENE ASSOCIATED WITH HEREDITARY MULTIPLE EXOSTOSES, AND 3 OTHER MEMBERS FROM THIS NOVEL GENE FAMILY
Authors: VANHUL W WUYTS W HENDRICKX J WAUTERS J DEBOULLE K WILLEMS PJ
Citation: W. Vanhul et al., IDENTIFICATION OF THE EXT2 GENE ASSOCIATED WITH HEREDITARY MULTIPLE EXOSTOSES, AND 3 OTHER MEMBERS FROM THIS NOVEL GENE FAMILY, Journal of bone and mineral research, 12, 1997, pp. 661-661
Risultati: 1-25 | 26-50 | 51-75 | 76-97