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Results: 1-25 | 26-34
Results: 1-25/34
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
CHROMOSOMAL LOCATIONS OF 3 HUMAN NUCLEAR GENES (RPSM12, TUFM, AND AFG3L1) SPECIFYING PUTATIVE COMPONENTS OF THE MITOCHONDRIAL GENE-EXPRESSION APPARATUS
Authors: SHAH ZH MIGLIOSI V MILLER SCM WANG AH FRIEDMAN TB JACOBS HT
Citation: Zh. Shah et al., CHROMOSOMAL LOCATIONS OF 3 HUMAN NUCLEAR GENES (RPSM12, TUFM, AND AFG3L1) SPECIFYING PUTATIVE COMPONENTS OF THE MITOCHONDRIAL GENE-EXPRESSION APPARATUS, Genomics, 48(3), 1998, pp. 384-388
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
CORRECTION OF DEAFNESS IN SHAKER-2 MICE BY AN UNCONVENTIONAL MYOSIN IN A BAC TRANSGENE
Authors: PROBST FJ FRIDELL RA RAPHAEL Y SAUNDERS TL WANG AH LIANG Y MORELL RJ TOUCHMAN JW LYONS RH NOBENTRAUTH K FRIEDMAN TB CAMPER SA
Citation: Fj. Probst et al., CORRECTION OF DEAFNESS IN SHAKER-2 MICE BY AN UNCONVENTIONAL MYOSIN IN A BAC TRANSGENE, Science, 280(5368), 1998, pp. 1444-1447
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
MUTATION IN TRANSCRIPTION FACTOR POU4F3 ASSOCIATED WITH INHERITED PROGRESSIVE HEARING-LOSS IN HUMANS
Authors: VAHAVA O MORELL R LYNCH ED WEISS S KAGAN ME AHITUV N MORROW JE LEE MK SKVORAK AB MORTON CC BLUMENFELD A FRYDMAN M FRIEDMAN TB KING MC AVRAHAM KB
Citation: O. Vahava et al., MUTATION IN TRANSCRIPTION FACTOR POU4F3 ASSOCIATED WITH INHERITED PROGRESSIVE HEARING-LOSS IN HUMANS, Science, 279(5358), 1998, pp. 1950-1954
MUTATIONS IN THE CONNEXIN 26 GENE (GJB2) AMONG ASHKENAZI JEWS WITH NONSYNDROMIC RECESSIVE DEAFNESS
Authors: MORELL RJ KIM HJ HOOD LJ GOFORTH L FRIDERICI K FISHER R VANCAMP G BERLIN CI ODDOUX C OSTRER H KEATS B FRIEDMAN TB
Citation: Rj. Morell et al., MUTATIONS IN THE CONNEXIN 26 GENE (GJB2) AMONG ASHKENAZI JEWS WITH NONSYNDROMIC RECESSIVE DEAFNESS, The New England journal of medicine, 339(21), 1998, pp. 1500-1505
THE POLITICIZATION OF THE JUDICIARY
Authors: FRIEDMAN TB
Citation: Tb. Friedman, THE POLITICIZATION OF THE JUDICIARY, Judicature, 82(1), 1998, pp. 6-7
SEPTO-OPTIC DYSPLASIA AND WS1 IN THE PROBAND OF A WS1 FAMILY SEGREGATING FOR A NOVEL MUTATION IN PAX3 EXON-7
Authors: CAREY ML FRIEDMAN TB ASHER JH INNIS JW
Citation: Ml. Carey et al., SEPTO-OPTIC DYSPLASIA AND WS1 IN THE PROBAND OF A WS1 FAMILY SEGREGATING FOR A NOVEL MUTATION IN PAX3 EXON-7, Journal of Medical Genetics, 35(3), 1998, pp. 248-250
APPARENT DIGENIC INHERITANCE OF WAARDENBURG-SYNDROME TYPE-2 (WS2) ANDAUTOSOMAL RECESSIVE OCULAR ALBINISM (AROA)
Authors: MORELL R SPRITZ RA HO L PIERPONT J GUO W FRIEDMAN TB ASHER JH
Citation: R. Morell et al., APPARENT DIGENIC INHERITANCE OF WAARDENBURG-SYNDROME TYPE-2 (WS2) ANDAUTOSOMAL RECESSIVE OCULAR ALBINISM (AROA), Human molecular genetics, 6(5), 1997, pp. 659-664
HUMAN INNER-EAR OCP2 CDNA MAPS TO 5Q22-5Q35.2 WITH RELATED SEQUENCES ON CHROMOSOMES 4P16.2-4P14, 5P13-5Q22, 7PTER-Q22, 10P13-12QTER AND 12P13-12QTER
Authors: LIANG Y CHEN H ASHER JH CHANG CC FRIEDMAN TB
Citation: Y. Liang et al., HUMAN INNER-EAR OCP2 CDNA MAPS TO 5Q22-5Q35.2 WITH RELATED SEQUENCES ON CHROMOSOMES 4P16.2-4P14, 5P13-5Q22, 7PTER-Q22, 10P13-12QTER AND 12P13-12QTER, Gene, 184(2), 1997, pp. 163-167
EXCLUSION OF BMP6 AS A CANDIDATE GENE FOR CLEIDOCRANIAL DYSPLASIA
Authors: INNIS JW ASHER JH LIANG Y WANG A WILKE CM DIERICK HA KAZENGILLESPIE K SHELDON S GLOVER TW FRIEDMAN TB
Citation: Jw. Innis et al., EXCLUSION OF BMP6 AS A CANDIDATE GENE FOR CLEIDOCRANIAL DYSPLASIA, American journal of medical genetics, 71(3), 1997, pp. 292-297
THE INCIDENCE OF DEAFNESS IS NON-RANDOMLY DISTRIBUTED AMONG FAMILIES SEGREGATING FOR WAARDENBURG-SYNDROME TYPE-1 (WS1)
Authors: MORELL R FRIEDMAN TB ASHER JH ROBBINS LG
Citation: R. Morell et al., THE INCIDENCE OF DEAFNESS IS NON-RANDOMLY DISTRIBUTED AMONG FAMILIES SEGREGATING FOR WAARDENBURG-SYNDROME TYPE-1 (WS1), Journal of Medical Genetics, 34(6), 1997, pp. 447-452
CLINICAL AND MOLECULAR STUDIES OF PAX3 AND TWIST MUTATIONS IN A UNIQUE 5-GENERATION FAMILY WITH CRANIOFACIAL MALFORMATIONS, HETEROCHROMIA, AND WHITE HAIR PATCHES
Authors: SCHMITT ES PROUD VK BOYD EF SPINNER RJ CAREY ML SCHWARTZ CF FRIEDMAN TB
Citation: Es. Schmitt et al., CLINICAL AND MOLECULAR STUDIES OF PAX3 AND TWIST MUTATIONS IN A UNIQUE 5-GENERATION FAMILY WITH CRANIOFACIAL MALFORMATIONS, HETEROCHROMIA, AND WHITE HAIR PATCHES, American journal of human genetics, 61(4), 1997, pp. 628-628
GENETIC AND PHYSICAL MAP OF THE SHAKER-2 CRITICAL REGION, A MOUSE MODEL FOR NONSYNDROMIC DEAFNESS
Authors: PROBST FJ WANG A FRIEDMAN TB CAMPER SA
Citation: Fj. Probst et al., GENETIC AND PHYSICAL MAP OF THE SHAKER-2 CRITICAL REGION, A MOUSE MODEL FOR NONSYNDROMIC DEAFNESS, American journal of human genetics, 61(4), 1997, pp. 1404-1404
NONSYNDROMIC RECESSIVE DEAFNESS SEGREGATING WITH DIFFERENT HAPLOTYPESIN FAMILIES FROM BALI AND INDIA MAPPED TO THE 4 CM DFNB3 REGION OF 17P11.2
Authors: LIANG Y WANG A MORELL R WILCOX E JAIN P LI XC NEGRINI C DESHMUKH D LUPSKI JR CHEN KS HINNANT JT BARBER T WINATA S ARHYA IN MOELJOPAWIRO S FRIEDMAN TB
Citation: Y. Liang et al., NONSYNDROMIC RECESSIVE DEAFNESS SEGREGATING WITH DIFFERENT HAPLOTYPESIN FAMILIES FROM BALI AND INDIA MAPPED TO THE 4 CM DFNB3 REGION OF 17P11.2, American journal of human genetics, 61(4), 1997, pp. 1646-1646
NON-SYNDROMIC AUTOSOMAL-DOMINANT PROGRESSIVE HEARING-LOSS IN AN ISRAELI FAMILY
Authors: VAHAVA O MORELL R PLOPLIS B FRIEDMAN TB AVRAHAM KB
Citation: O. Vahava et al., NON-SYNDROMIC AUTOSOMAL-DOMINANT PROGRESSIVE HEARING-LOSS IN AN ISRAELI FAMILY, American journal of human genetics, 61(4), 1997, pp. 1740-1740
MODIFIER GENES IN WAARDENBURG-SYNDROME
Authors: MORELL RJ FRIEDMAN TB
Citation: Rj. Morell et Tb. Friedman, MODIFIER GENES IN WAARDENBURG-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 2376-2376
3 MUTATIONS IN THE PAIRED HOMEODOMAIN OF PAX3 THAT CAUSE WAARDENBURG SYNDROME TYPE-1
Authors: MORELL R CAREY ML LALWANI AK FRIEDMAN TB ASHER JH
Citation: R. Morell et al., 3 MUTATIONS IN THE PAIRED HOMEODOMAIN OF PAX3 THAT CAUSE WAARDENBURG SYNDROME TYPE-1, Human heredity, 47(1), 1997, pp. 38-41
MISSENSE MUTATION IN THE PAIRED DOMAIN OF PAX3 CAUSES CRANIOFACIAL-DEAFNESS-HAND-SYNDROME
Authors: ASHER JH SOMMER A MORELL R FRIEDMAN TB
Citation: Jh. Asher et al., MISSENSE MUTATION IN THE PAIRED DOMAIN OF PAX3 CAUSES CRANIOFACIAL-DEAFNESS-HAND-SYNDROME, Human mutation, 7(1), 1996, pp. 30-35
EFFECTS OF PAX3 MODIFIER GENES ON CRANIOFACIAL MORPHOLOGY, PIGMENTATION, AND VIABILITY - A MURINE MODEL OF WAARDENBURG SYNDROME VARIATION
Authors: ASHER JH HARRISON RW MORELL R CAREY ML FRIEDMAN TB
Citation: Jh. Asher et al., EFFECTS OF PAX3 MODIFIER GENES ON CRANIOFACIAL MORPHOLOGY, PIGMENTATION, AND VIABILITY - A MURINE MODEL OF WAARDENBURG SYNDROME VARIATION, Genomics, 34(3), 1996, pp. 285-298
A GENE FOR CONGENITAL, RECESSIVE DEAFNESS DFNB3 MAPS TO THE PERICENTROMERIC REGION OF CHROMOSOME-17
Authors: FRIEDMAN TB LIANG Y WEBER JL HINNANT JT BARBER TD WINATA S ARHYA IN ASHER JH
Citation: Tb. Friedman et al., A GENE FOR CONGENITAL, RECESSIVE DEAFNESS DFNB3 MAPS TO THE PERICENTROMERIC REGION OF CHROMOSOME-17, Nature genetics, 9(1), 1995, pp. 86-91
ANALYSIS OF SHORT TANDEM REPEAT (STR) ALLELE FREQUENCY-DISTRIBUTIONS IN A BALINESE POPULATION
Authors: MORELL R LIANG Y ASHER JH WEBER JL HINNANT JT WINATA S ARHYA IN FRIEDMAN TB
Citation: R. Morell et al., ANALYSIS OF SHORT TANDEM REPEAT (STR) ALLELE FREQUENCY-DISTRIBUTIONS IN A BALINESE POPULATION, Human molecular genetics, 4(1), 1995, pp. 85-91
CONGENITAL NON-SYNDROMAL AUTOSOMAL RECESSIVE DEAFNESS IN BENGKALA, ANISOLATED BALINESE VILLAGE
Authors: WINATA S ARHYA IN MOELJOPAWIRO S HINNANT JT LIANG Y FRIEDMAN TB ASHER JH
Citation: S. Winata et al., CONGENITAL NON-SYNDROMAL AUTOSOMAL RECESSIVE DEAFNESS IN BENGKALA, ANISOLATED BALINESE VILLAGE, Journal of Medical Genetics, 32(5), 1995, pp. 336-343
Risultati: 1-25 | 26-34