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Results: 1-24 |
Results: 24
IDENTIFICATION OF 3 NOVEL MUTATIONS IN HUMAN EYA1 PROTEIN ASSOCIATED WITH BRANCHIOOTORENAL SYNDROME
Authors: KUMAR S KIMBERLING WJ WESTON MD SCHAEFER BG BERG MA MARRES HAM CREMERS CWRJ
Citation: S. Kumar et al., IDENTIFICATION OF 3 NOVEL MUTATIONS IN HUMAN EYA1 PROTEIN ASSOCIATED WITH BRANCHIOOTORENAL SYNDROME, Human mutation, 11(6), 1998, pp. 443-449
ISOLATION OF A GENE ENCODING A NOVEL MEMBER OF THE NUCLEAR RECEPTOR SUPERFAMILY FROM THE CRITICAL REGION OF USHER-SYNDROME TYPE IIA AT 1Q41
Authors: EUDY JD YAO SF WESTON MD MAEDMONDS M TALMADGE CB CHENG JJ KIMBERLING WJ SUMEGI J
Citation: Jd. Eudy et al., ISOLATION OF A GENE ENCODING A NOVEL MEMBER OF THE NUCLEAR RECEPTOR SUPERFAMILY FROM THE CRITICAL REGION OF USHER-SYNDROME TYPE IIA AT 1Q41, Genomics (San Diego, Calif.), 50(3), 1998, pp. 382-384
MUTATION OF A GENE ENCODING A PROTEIN WITH EXTRACELLULAR-MATRIX MOTIFS IN USHER-SYNDROME TYPE-IIA
Authors: EUDY JD WESTON MD YAO SF HOOVER DM REHM HL MAEDMONDS M YAN D AHMAD I CHENG JJ AYUSO C CREMERS C DAVENPORT S MOLLER C TALMADGE CB BEISEL KW TAMAYO M MORTON CC SWAROOP A KIMBERLING WJ SUMEGI J
Citation: Jd. Eudy et al., MUTATION OF A GENE ENCODING A PROTEIN WITH EXTRACELLULAR-MATRIX MOTIFS IN USHER-SYNDROME TYPE-IIA, Science, 280(5370), 1998, pp. 1753-1757
ISOLATION OF A NOVEL HUMAN HOMOLOG OF THE GENE CODING FOR ECHINODERM MICROTUBULE-ASSOCIATED PROTEIN (EMAP) FROM THE USHER-SYNDROME TYPE 1A LOCUS AT 14Q32
Authors: EUDY JD MAEDMONDS M YAO SF TALMADGE CB KELLEY PM WESTON MD KIMBERLING WJ SUMEGI J
Citation: Jd. Eudy et al., ISOLATION OF A NOVEL HUMAN HOMOLOG OF THE GENE CODING FOR ECHINODERM MICROTUBULE-ASSOCIATED PROTEIN (EMAP) FROM THE USHER-SYNDROME TYPE 1A LOCUS AT 14Q32, Genomics, 43(1), 1997, pp. 104-106
THE GENOMIC STRUCTURE OF THE GENE DEFECTIVE IN USHER-SYNDROME TYPE IB(MYO7A)
Authors: KELLEY PM WESTON MD CHEN ZY ORTEN DJ HASSON T OVERBECK LD PINNT J TALMADGE CB ING P MOOSEKER MS COREY D SUMEGI J KIMBERLING WJ
Citation: Pm. Kelley et al., THE GENOMIC STRUCTURE OF THE GENE DEFECTIVE IN USHER-SYNDROME TYPE IB(MYO7A), Genomics, 40(1), 1997, pp. 73-79
THE CHARACTERIZATION AND EFFECT OF MYOSIN VIIA MUTATIONS IN PATIENTS WITH USHER-SYNDROME TYPE-I
Authors: PAYNE AM UPADHYAYA VJ BESSANT DAR DOWNES SM FITZKE FW HOLDER GE BIRD AC WESTON MD KIMBERLING WJ BHATTACHARYA SS
Citation: Am. Payne et al., THE CHARACTERIZATION AND EFFECT OF MYOSIN VIIA MUTATIONS IN PATIENTS WITH USHER-SYNDROME TYPE-I, Investigative ophthalmology & visual science, 38(4), 1997, pp. 3719-3719
MUTATION SCREENING OF MYOSIN VIIA PROMOTER ELEMENTS IN USHER-SYNDROMETYPE 1B PATIENTS
Authors: ORTEN DJ WESTON MD KELLEY PM KIMBERLING WJ
Citation: Dj. Orten et al., MUTATION SCREENING OF MYOSIN VIIA PROMOTER ELEMENTS IN USHER-SYNDROMETYPE 1B PATIENTS, American journal of human genetics, 61(4), 1997, pp. 1030-1030
GENETIC-HETEROGENEITY OF USHER-SYNDROME
Authors: PIEKEDAHL S WESTON MD KIMBERLING WJ
Citation: S. Piekedahl et al., GENETIC-HETEROGENEITY OF USHER-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 1697-1697
THE CONSTRUCTION OF A YEAST ARTIFICIAL CHROMOSOME (YAC) CONTIG IN THEVICINITY OF THE USHER SYNDROME TYPE IIA (USH2A) GENE IN 1Q41
Authors: SUMEGI J WANG JY ZHEN DK EUDY JD TALMADGE CB LI BF BERGLUND P WESTON MD YAO SF MAEDMONDS ML OVERBECK L KELLEY PM ZABAROVSKY E UZVOLGYI E STANBRIDGE EJ KLEIN G KIMBERLING WJ
Citation: J. Sumegi et al., THE CONSTRUCTION OF A YEAST ARTIFICIAL CHROMOSOME (YAC) CONTIG IN THEVICINITY OF THE USHER SYNDROME TYPE IIA (USH2A) GENE IN 1Q41, Genomics, 35(1), 1996, pp. 79-86
MYOSIN VIIA MUTATION SCREENING IN 189-USHER-SYNDROME TYPE-1 PATIENTS
Authors: WESTON MD KELLEY PM OVERBECK LD WAGENAAR M ORTEN DJ HASSON T CHEN ZY COREY D MOOSEKER M SUMEGI J CREMERS C MOLLER C JACOBSON SG GORIN MB KIMBERLING WJ
Citation: Md. Weston et al., MYOSIN VIIA MUTATION SCREENING IN 189-USHER-SYNDROME TYPE-1 PATIENTS, American journal of human genetics, 59(5), 1996, pp. 1074-1083
CONSTRUCTION AND CHARACTERIZATION OF A NOTI LINKING LIBRARY FROM HUMAN-CHROMOSOME REGION 1Q25-QTER
Authors: TALMADGE CB ZHEN DK WANG JY BERGLUND P LI BF WESTON MD KIMBERLING WJ ZABAROVSKY ER STANBRIDGE EJ KLEIN G SUMEGI J
Citation: Cb. Talmadge et al., CONSTRUCTION AND CHARACTERIZATION OF A NOTI LINKING LIBRARY FROM HUMAN-CHROMOSOME REGION 1Q25-QTER, Genomics, 29(1), 1995, pp. 105-114
DEFECTIVE MYOSIN VIIA GENE RESPONSIBLE FOR USHER SYNDROME TYPE 1B
Authors: WELL D BLANCHARD S KAPLAN J GUILFORD P GIBSON F WALSH J MBURU P VARELA A LEVILLERS J WESTON MD KELLEY PM KIMBERLING WJ WAGENAAR M LEVIACOBAS F LARGETPIET D MUNNICH A STEEL KP BROWN SDM PETIT C
Citation: D. Well et al., DEFECTIVE MYOSIN VIIA GENE RESPONSIBLE FOR USHER SYNDROME TYPE 1B, Nature, 374(6517), 1995, pp. 60-61
MUTATION SCREENING OF THE MYOSIN-VII GENE IN 189 USHER-SYNDROME PATIENTS
Authors: WESTON MD OVERBECK LD KELLEY PD SUMEGI J KIMBERLING WJ
Citation: Md. Weston et al., MUTATION SCREENING OF THE MYOSIN-VII GENE IN 189 USHER-SYNDROME PATIENTS, American journal of human genetics, 57(4), 1995, pp. 1343-1343
A PHYSICAL MAP OF THE USHER IB MYOSIN-VII REGION ON CHROMOSOME 11Q
Authors: KELLEY PM HASSON T OVERBECK LD WESTON MD CHEN Z ORTEN DJ COREY DP MOOSEKER MS SUMEGI J KIMBERLING WJ
Citation: Pm. Kelley et al., A PHYSICAL MAP OF THE USHER IB MYOSIN-VII REGION ON CHROMOSOME 11Q, American journal of human genetics, 57(4), 1995, pp. 1517-1517
GENE-MAPPING OF USHER SYNDROME TYPE IIA - LOCALIZATION OF THE GENE TOA 2.1-CM SEGMENT ON CHROMOSOME 1Q41
Authors: KIMBERLING WJ WESTON MD MOLLER C VANAAREM A CREMERS CWRJ SUMEGI J ING PS CONNOLLY C MARTINI A MILANI M TAMAYO ML BERNAL J GREENBERG J AYUSO C
Citation: Wj. Kimberling et al., GENE-MAPPING OF USHER SYNDROME TYPE IIA - LOCALIZATION OF THE GENE TOA 2.1-CM SEGMENT ON CHROMOSOME 1Q41, American journal of human genetics, 56(1), 1995, pp. 216-223
DINUCLEOTIDE REPEAT POLYMORPHISM IN THE TGFB2 GENE
Authors: WESTON MD ZHEN DK SUMEGI J KIMBERLING WJ
Citation: Md. Weston et al., DINUCLEOTIDE REPEAT POLYMORPHISM IN THE TGFB2 GENE, Human molecular genetics, 3(7), 1994, pp. 1211-1211
DINUCLEOTIDE REPEAT POLYMORPHISM AT D1S556
Authors: WESTON MD ZHEN DK SUMEGI J KIMBERLING WJ
Citation: Md. Weston et al., DINUCLEOTIDE REPEAT POLYMORPHISM AT D1S556, Human molecular genetics, 3(7), 1994, pp. 1211-1211
DINUCLEOTIDE REPEAT POLYMORPHISM FOR D1S70 (CRI-L461) ON CHROMOSOME 1Q41
Authors: WESTON MD KIMBERLING WJ
Citation: Md. Weston et Wj. Kimberling, DINUCLEOTIDE REPEAT POLYMORPHISM FOR D1S70 (CRI-L461) ON CHROMOSOME 1Q41, Human molecular genetics, 3(7), 1994, pp. 1212-1212
MAPPING USHER TYPE IIA TO CHROMOSOME 1Q41
Authors: KIMBERLING WJ WESTON MD MOLLER C CREMERS C MARTINI A AYUSO C TOMAYO M SUMEGI J CONNOLLY C FOWLER T HOOVER D
Citation: Wj. Kimberling et al., MAPPING USHER TYPE IIA TO CHROMOSOME 1Q41, Cytogenetics and cell genetics, 67(3), 1994, pp. 170-170
MIVACURIUM IN THE MYASTHENIC PATIENT
Authors: PATERSON IG HOOD JR RUSSELL SH WESTON MD HIRSCH NP
Citation: Ig. Paterson et al., MIVACURIUM IN THE MYASTHENIC PATIENT, British Journal of Anaesthesia, 73(4), 1994, pp. 494-498
MIVACURIUM IN YOUNG-ADULT AND ELDERLY PATIENTS
Authors: PLATT MW MUNDAY IT MERRETT KL WESTON MD JONES RM
Citation: Mw. Platt et al., MIVACURIUM IN YOUNG-ADULT AND ELDERLY PATIENTS, British Journal of Anaesthesia, 73(2), 1994, pp. 160000263-160000263
DINUCLEOTIDE REPEAT POLYMORPHISM AT THE HUMAN OLFACTORY MARKER PROTEIN (OMP) LOCUS ON CHROMOSOME-11Q13.5 NEAR TYROSINASE (TYR)
Authors: DAHL SP WESTON MD OVERBECK LD EVANS KL PORTEOUS DJ KIMBERLING WJ
Citation: Sp. Dahl et al., DINUCLEOTIDE REPEAT POLYMORPHISM AT THE HUMAN OLFACTORY MARKER PROTEIN (OMP) LOCUS ON CHROMOSOME-11Q13.5 NEAR TYROSINASE (TYR), Human molecular genetics, 2(6), 1993, pp. 822-822
DINUCLEOTIDE (CT)N (CA)N REPEAT POLYMORPHISM FOR D11S787 ON CHROMOSOME-11Q13.4
Authors: OVERBECK LD WESTON MD KIMBERLING WJ EVANS GA
Citation: Ld. Overbeck et al., DINUCLEOTIDE (CT)N (CA)N REPEAT POLYMORPHISM FOR D11S787 ON CHROMOSOME-11Q13.4, Human molecular genetics, 2(5), 1993, pp. 611-611
GENETIC-HETEROGENEITY OF USHER SYNDROME TYPE-II
Authors: DAHL SP KIMBERLING WJ GORIN MB WESTON MD FURMAN JMR PIKUS A MOLLER C
Citation: Sp. Dahl et al., GENETIC-HETEROGENEITY OF USHER SYNDROME TYPE-II, Journal of Medical Genetics, 30(10), 1993, pp. 843-848
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