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Results: 1-13 |
Results: 13
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
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
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
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
PROGRESSIVE SENSORINEURAL HEARING-LOSS AND A WIDENED VESTIBULAR AQUEDUCT IN PENDRED-SYNDROME
Authors: CREMERS CWRJ BOLDER C ADMIRAAL RJC EVERETT LA JOOSTEN FBM VANHAUWE P GREEN ED OTTEN BJ
Citation: Cwrj. Cremers et al., PROGRESSIVE SENSORINEURAL HEARING-LOSS AND A WIDENED VESTIBULAR AQUEDUCT IN PENDRED-SYNDROME, Archives of otolaryngology, head & neck surgery, 124(5), 1998, pp. 501-505
NONSYNDROMIC AUTOSOMAL-DOMINANT PROGRESSIVE SENSORINEURAL HEARING-LOSS - AUDIOLOGICAL ANALYSIS OF A PEDIGREE LINKED TO DFNA2
Authors: KUNST H MARRES H HUYGEN P ENSINK R VANCAMP G VANHAUWE P COUCKE P WILLEMS P CREMERS C
Citation: H. Kunst et al., NONSYNDROMIC AUTOSOMAL-DOMINANT PROGRESSIVE SENSORINEURAL HEARING-LOSS - AUDIOLOGICAL ANALYSIS OF A PEDIGREE LINKED TO DFNA2, The Laryngoscope, 108(1), 1998, pp. 74-80
CHROMOSOMAL MAPPING OF 2 MEMBERS OF THE HUMAN DYNEIN GENE FAMILY TO CHROMOSOME REGIONS 7P15 AND 11Q13 NEAR THE DEAFNESS LOCI DFNA-5 AND DFNA-11
Authors: KASTURY K TAYLOR WE GUTIERREZ M RAMIREZ L COUCKE PJ VANHAUWE P VANCAMP G BHASIN S
Citation: K. Kastury et al., CHROMOSOMAL MAPPING OF 2 MEMBERS OF THE HUMAN DYNEIN GENE FAMILY TO CHROMOSOME REGIONS 7P15 AND 11Q13 NEAR THE DEAFNESS LOCI DFNA-5 AND DFNA-11, Genomics, 44(3), 1997, pp. 362-364
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
NEW GENE FOR AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING-LOSS MAPS TO EITHER CHROMOSOME 3Q OR 19P
Authors: CHEN A WAYNE S BELL A RAMESH A SRISAILAPATHY CRS SCOTT DA SHEFFIELD VC VANHAUWE P ZBAR RIS ASHLEY J LOVETT M VANCAMP G SMITH RJH
Citation: A. Chen et al., NEW GENE FOR AUTOSOMAL RECESSIVE NON-SYNDROMIC HEARING-LOSS MAPS TO EITHER CHROMOSOME 3Q OR 19P, American journal of medical genetics, 71(4), 1997, pp. 467-471
COMPLEMENTARY DEOXYRIBONUCLEIC-ACID CLONING AND CHARACTERIZATION OF APUTATIVE HUMAN AXONEMAL DYNEIN LIGHT-CHAIN GENE
Authors: KASTURY K TAYLOR WE SHEN RQ ARVER S GUTIERREZ M FISHER CE COUCKE PJ VANHAUWE P VANCAMP G BHASIN S
Citation: K. Kastury et al., COMPLEMENTARY DEOXYRIBONUCLEIC-ACID CLONING AND CHARACTERIZATION OF APUTATIVE HUMAN AXONEMAL DYNEIN LIGHT-CHAIN GENE, The Journal of clinical endocrinology and metabolism, 82(9), 1997, pp. 3047-3053
A NEW CONNEXIN GENE IN THE DFNA2 DEAFNESS REGION ON CHROMOSOME 1P34
Authors: COUCKE P VANLAER L VANHAUWE P MEYERS J KELLEY P WILLEMS PJ VANCAMP G
Citation: P. Coucke et al., A NEW CONNEXIN GENE IN THE DFNA2 DEAFNESS REGION ON CHROMOSOME 1P34, American journal of human genetics, 61(4), 1997, pp. 106-106
RP4 /MU3A-MEDIATED IN-VIVO CLONING AND TRANSFER OF A CHLOROBIPHENYL CATABOLIC PATHWAY/
Authors: SPRINGAEL D VANTHOR J GOORISSEN H RYNGAERT A DEBAERE R VANHAUWE P COMMANDEUR LCM PARSONS JR DEWACHTER R MERGEAY M
Citation: D. Springael et al., RP4 /MU3A-MEDIATED IN-VIVO CLONING AND TRANSFER OF A CHLOROBIPHENYL CATABOLIC PATHWAY/, Microbiology, 142, 1996, pp. 3283-3293
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