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Results: 1-25 |
Results: 25
GENETIC-MAPPING REFINES DFNB3 TO 17P11.2, SUGGESTS MULTIPLE ALLELES OF DFNB3, AND SUPPORTS HOMOLOGY TO THE MOUSE MODEL SHAKER-2
Authors: LIANG Y WANG AH PROBST FJ ARHYA IN BARBER TD CHEN KS DESHMUKH D DOLAN DF HINNANT JT CARTER LE JAIN PK LALWANI AK LI XYC LUPSKI JR MOELJOPAWIRO S MORELL R NEGRINI C WILCOX ER WINATA S CAMPER SA FRIEDMAN TB
Citation: Y. Liang et al., GENETIC-MAPPING REFINES DFNB3 TO 17P11.2, SUGGESTS MULTIPLE ALLELES OF DFNB3, AND SUPPORTS HOMOLOGY TO THE MOUSE MODEL SHAKER-2, American journal of human genetics, 62(4), 1998, pp. 904-915
A MUTATION IN PDS CAUSES NON-SYNDROMIC RECESSIVE DEAFNESS
Authors: LI XC EVERETT LA LALWANI AK DESMUKH D FRIEDMAN TB GREEN ED WILCOX ER
Citation: Xc. Li et al., A MUTATION IN PDS CAUSES NON-SYNDROMIC RECESSIVE DEAFNESS, Nature genetics, 18(3), 1998, pp. 215-217
A PAX3 POLYMORPHISM (T315K) IN A FAMILY EXHIBITING WAARDENBURG-SYNDROME TYPE-2 (WS2)
Authors: WANG C KIM E ATTAIE A SMITH TN WILCOX ER LALWANI AK
Citation: C. Wang et al., A PAX3 POLYMORPHISM (T315K) IN A FAMILY EXHIBITING WAARDENBURG-SYNDROME TYPE-2 (WS2), Molecular and cellular probes, 12(1), 1998, pp. 55-57
A GENE FOR RECESSIVE NONSYNDROMIC SENSORINEURAL DEAFNESS (DFNB18) MAPS TO THE CHROMOSOMAL REGION 11P14-P15.1 CONTAINING THE USHER-SYNDROME TYPE 1C GENE
Authors: JAIN PK LALWANI AK LI XC SINGLETON TL SMITH TN CHEN A DESHMUKH D VERMA IC SMITH RJH WILCOX ER
Citation: Pk. Jain et al., A GENE FOR RECESSIVE NONSYNDROMIC SENSORINEURAL DEAFNESS (DFNB18) MAPS TO THE CHROMOSOMAL REGION 11P14-P15.1 CONTAINING THE USHER-SYNDROME TYPE 1C GENE, Genomics, 50(2), 1998, pp. 290-292
CORRELATION BETWEEN WAARDENBURG-SYNDROME PHENOTYPE AND GENOTYPE IN A POPULATION OF INDIVIDUALS WITH IDENTIFIED PAX3 MUTATIONS
Authors: DESTEFANO AL CUPPLES LA ARNOS KS ASHER JH BALDWIN CT BLANTON S CAREY ML DASILVA EO FRIEDMAN TB GREENBERG J LALWANI AK MILUNSKY A NANCE WE PANDYA A RAMESAR RS READ AP TASSABEJHI M WILCOX ER FARRER LA
Citation: Al. Destefano et al., CORRELATION BETWEEN WAARDENBURG-SYNDROME PHENOTYPE AND GENOTYPE IN A POPULATION OF INDIVIDUALS WITH IDENTIFIED PAX3 MUTATIONS, Human genetics, 102(5), 1998, pp. 499-506
ASSOCIATION OF UNCONVENTIONAL MYOSIN MYO15 MUTATIONS WITH HUMAN NONSYNDROMIC DEAFNESS DFNB3
Authors: WANG AH LIANG Y FRIDELL RA PROBST FJ WILCOX ER TOUCHMAN JW MORTON CC MORELL RJ NOBENTRAUTH K CAMPER SA FRIEDMAN TB
Citation: Ah. Wang et al., ASSOCIATION OF UNCONVENTIONAL MYOSIN MYO15 MUTATIONS WITH HUMAN NONSYNDROMIC DEAFNESS DFNB3, Science, 280(5368), 1998, pp. 1447-1451
A 5-GENERATION FAMILY WITH LATE-ONSET PROGRESSIVE HEREDITARY HEARING IMPAIRMENT DUE TO COCHLEOSACCULAR DEGENERATION
Authors: LALWANI AK LINTHICUM FH WILCOX ER MOORE JK WALTERS FC SANAGUSTIN TB MISLINSKI J MILLER MR SINNINGER Y ATTAIE A LUXFORD WM
Citation: Ak. Lalwani et al., A 5-GENERATION FAMILY WITH LATE-ONSET PROGRESSIVE HEREDITARY HEARING IMPAIRMENT DUE TO COCHLEOSACCULAR DEGENERATION, Audiology & neuro-otology, 2(3), 1997, pp. 139-154
A SPLICE-SITE MUTATION AFFECTING THE PAIRED BOX OF PAX3 IN A 3 GENERATION FAMILY WITH WAARDENBURG SYNDROME TYPE-I (WS1)
Authors: ATTAIE A KIM E WILCOX ER LALWANI AK
Citation: A. Attaie et al., A SPLICE-SITE MUTATION AFFECTING THE PAIRED BOX OF PAX3 IN A 3 GENERATION FAMILY WITH WAARDENBURG SYNDROME TYPE-I (WS1), Molecular and cellular probes, 11(3), 1997, pp. 233-236
A GENE FOR RECESSIVE NONSYNDROMIC SENSORINEURAL HEARING IMPAIRMENT (DFNB18) MAPS TO THE CHROMOSOMAL REGION CONTAINING THE USHER-SYNDROME TYPE 1C GENE
Authors: JAIN PK LALWANI AK LI XC MCDUFFIE T DESHMUKH D VERMA IC WILCOX ER
Citation: Pk. Jain et al., A GENE FOR RECESSIVE NONSYNDROMIC SENSORINEURAL HEARING IMPAIRMENT (DFNB18) MAPS TO THE CHROMOSOMAL REGION CONTAINING THE USHER-SYNDROME TYPE 1C GENE, American journal of human genetics, 61(4), 1997, pp. 1632-1632
A NOVEL ZINC-FINGER GENE PREFERENTIALLY EXPRESSED IN THE RETINA AND THE ORGAN OF CORTI LOCALIZES TO HUMAN-CHROMOSOME 12Q24.3
Authors: RIVOLTA MN NEGRINI C WILCOX ER
Citation: Mn. Rivolta et al., A NOVEL ZINC-FINGER GENE PREFERENTIALLY EXPRESSED IN THE RETINA AND THE ORGAN OF CORTI LOCALIZES TO HUMAN-CHROMOSOME 12Q24.3, Biochimica et biophysica acta, N. Gene structure and expression, 1306(2-3), 1996, pp. 127-132
GENOTYPE-PHENOTYPE CORRELATIONS IN TYPE-1 WAARDENBURG SYNDROME
Authors: LALWANI AK MHATRE AN SANAGUSTIN TB WILCOX ER
Citation: Ak. Lalwani et al., GENOTYPE-PHENOTYPE CORRELATIONS IN TYPE-1 WAARDENBURG SYNDROME, The Laryngoscope, 106(7), 1996, pp. 895-902
AN AUTOSOMAL RECESSIVE NONSYNDROMIC FORM OF SENSORINEURAL HEARING-LOSS MAPS TO 3P-DFNB6
Authors: FUKUSHIMA K RAMESH A SRISAILAPATHY CRS NI L WAYNE S ONEILL ME VANCAMP G COUCKE P JAIN P WILCOX ER SMITH SD KENYON JB ZBAR RIS SMITH RJH
Citation: K. Fukushima et al., AN AUTOSOMAL RECESSIVE NONSYNDROMIC FORM OF SENSORINEURAL HEARING-LOSS MAPS TO 3P-DFNB6, PCR methods and applications, 5(3), 1995, pp. 305-308
CONSANGUINEOUS NUCLEAR FAMILIES USED TO IDENTIFY A NEW LOCUS FOR RECESSIVE NON-SYNDROMIC HEARING-LOSS ON 14Q
Authors: FUKUSHIMA K RAMESH A SRISAILAPATHY CRS NI L CHEN A ONEILL M VANCAMP G COUCKE P SMITH SD KENYON JB JAIN P WILCOX ER ZBAR RIS SMITH RJH
Citation: K. Fukushima et al., CONSANGUINEOUS NUCLEAR FAMILIES USED TO IDENTIFY A NEW LOCUS FOR RECESSIVE NON-SYNDROMIC HEARING-LOSS ON 14Q, Human molecular genetics, 4(9), 1995, pp. 1643-1648
A HUMAN RECESSIVE NEUROSENSORY NONSYNDROMIC HEARING IMPAIRMENT LOCUS IS A POTENTIAL HOMOLOG OF THE MURINE DEAFNESS (DN) LOCUS
Authors: JAIN PK FUKUSHIMA K DESHMUKH D RAMESH A THOMAS E LALWANI AK KUMAR S PLOPLIS B SKARKA H SRISAILAPATHY CRS WAYNE S ZBAR RIS VERMAN EC SMITH RJH WILCOX ER
Citation: Pk. Jain et al., A HUMAN RECESSIVE NEUROSENSORY NONSYNDROMIC HEARING IMPAIRMENT LOCUS IS A POTENTIAL HOMOLOG OF THE MURINE DEAFNESS (DN) LOCUS, Human molecular genetics, 4(12), 1995, pp. 2391-2394
A GENE FOR AUTOSOMAL-DOMINANT NONSYNDROMIC HEREDITARY HEARING IMPAIRMENT MAPS TO 4P16.3
Authors: LESPERANCE MM HALL JW BESS FH FUKUSHIMA K JAIN PK PLOPLIS B AGUSTIN TBS SKARKA H SMITH RJH WILLS M WILCOX ER
Citation: Mm. Lesperance et al., A GENE FOR AUTOSOMAL-DOMINANT NONSYNDROMIC HEREDITARY HEARING IMPAIRMENT MAPS TO 4P16.3, Human molecular genetics, 4(10), 1995, pp. 1967-1972
A NOVEL AND SIMPLE METHODOLOGY TO GENERATE SUBTRACTED CDNA LIBRARIES
Authors: RIVOLTA MN WILCOX ER
Citation: Mn. Rivolta et Er. Wilcox, A NOVEL AND SIMPLE METHODOLOGY TO GENERATE SUBTRACTED CDNA LIBRARIES, Nucleic acids research, 23(13), 1995, pp. 2565-2566
MAPPING A GENE FOR RECESSIVE NONSYNDROMIC HEARING IMPAIRMENT TO CHROMOSOME 9P21-Q21
Authors: JAIN PK DESHMUKH D THOMAS E KUMAR S LALWANI AK PLOPLIS B SKARKA H VERMAN IC WILCOX ER
Citation: Pk. Jain et al., MAPPING A GENE FOR RECESSIVE NONSYNDROMIC HEARING IMPAIRMENT TO CHROMOSOME 9P21-Q21, American journal of human genetics, 57(4), 1995, pp. 1112-1112
A GENE FOR NONSYNDROMIC HEREDITARY HEARING IMPAIRMENT MAPS TO 4P16.3
Authors: LESPERANCE MM HALL JW LI X BESS FH JAIN PK PLOPLIS B SANAUGUSTIN TB SKARKA H SMITH RJH WILLS M WILCOX ER
Citation: Mm. Lesperance et al., A GENE FOR NONSYNDROMIC HEREDITARY HEARING IMPAIRMENT MAPS TO 4P16.3, American journal of human genetics, 57(4), 1995, pp. 1129-1129
FURTHER ELUCIDATION OF THE GENOMIC STRUCTURE OF PAX3, AND IDENTIFICATION OF 2 DIFFERENT POINT MUTATIONS WITHIN THE PAX3 HOMEOBOX THAT CAUSEWAARDENBURG SYNDROME TYPE-I IN 2 FAMILIES
Authors: LALWANI AK BRISTER JR FEX J GRUNDFAST KM PLOPLIS B SANAGUSTIN TB WILCOX ER
Citation: Ak. Lalwani et al., FURTHER ELUCIDATION OF THE GENOMIC STRUCTURE OF PAX3, AND IDENTIFICATION OF 2 DIFFERENT POINT MUTATIONS WITHIN THE PAX3 HOMEOBOX THAT CAUSEWAARDENBURG SYNDROME TYPE-I IN 2 FAMILIES, American journal of human genetics, 56(1), 1995, pp. 75-83
CONSTRUCTION OF A CDNA LIBRARY FROM MICRODISSECTED GUINEA-PIG CRISTA-AMPULLARIS
Authors: WILCOX ER FEX J
Citation: Er. Wilcox et J. Fex, CONSTRUCTION OF A CDNA LIBRARY FROM MICRODISSECTED GUINEA-PIG CRISTA-AMPULLARIS, Hearing research, 73(1), 1994, pp. 65-66
NEW NONSYNDROMIC X-LINKED SENSORINEURAL HEARING IMPAIRMENT LINKED TO XP21.2
Authors: LALWANI AK BRISTER JR FEX J GRUNDFAST KM PIKUS AT PLOPLIS B SANAGUSTIN T SKARKA H WILCOX ER
Citation: Ak. Lalwani et al., NEW NONSYNDROMIC X-LINKED SENSORINEURAL HEARING IMPAIRMENT LINKED TO XP21.2, American journal of human genetics, 55(4), 1994, pp. 685-694
LOCUS HETEROGENEITY FOR WAARDENBURG SYNDROME IS PREDICTIVE OF CLINICAL SUBTYPES
Authors: FARRER LA ARNOS KS ASHER JH BALDWIN CT DIEHL SR FRIEDMAN TB GREENBERG J GRUNDFAST KM HOTH C LALWANI AK LANDA B LEVERTON K MILUNSKY A MORELL R NANCE WE NEWTON V RAMESAR R RAO VS REYNOLDS JE SANAGUSTIN TB WILCOX ER WINSHIP I READ AP
Citation: La. Farrer et al., LOCUS HETEROGENEITY FOR WAARDENBURG SYNDROME IS PREDICTIVE OF CLINICAL SUBTYPES, American journal of human genetics, 55(4), 1994, pp. 728-737
A NEW NONSYNDROMIC X-LINKED SENSORINEURAL HEARING-LOSS LINKED TO XP11.3-21.1
Authors: LALWANI AK BRISTER R FEX J GRUNDFAST KM PLOPLIS B AGUSTIN TS SKARKA H WILCOX ER
Citation: Ak. Lalwani et al., A NEW NONSYNDROMIC X-LINKED SENSORINEURAL HEARING-LOSS LINKED TO XP11.3-21.1, American journal of human genetics, 53(3), 1993, pp. 1027-1027
LOCUS HETEROGENEITY FOR WAARDENBURG SYNDROME IS NOT PREDICTIVE OF CLINICAL SUBTYPES
Authors: FARRER LA ASHER JH BALDWIN CT FRIEDMAN TB GREENBERG J GRUNDFAST KM LALWANI AK MILUNSKY A MORELL R NEWTON V RAMESAR R RAO VS AGUSTIN TBS WILCOX ER WINSHIP I READ AP
Citation: La. Farrer et al., LOCUS HETEROGENEITY FOR WAARDENBURG SYNDROME IS NOT PREDICTIVE OF CLINICAL SUBTYPES, American journal of human genetics, 53(3), 1993, pp. 1156-1156
CHARACTERIZATION OF A NOVEL RETINA-SPECIFIC CYCLIC NUCLEOTIDE-GATED CHANNEL
Authors: WILCOX ER PLOPLIS B SCHNEIDER M TACHIBANA M FEX J
Citation: Er. Wilcox et al., CHARACTERIZATION OF A NOVEL RETINA-SPECIFIC CYCLIC NUCLEOTIDE-GATED CHANNEL, American journal of human genetics, 53(3), 1993, pp. 1633-1633
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