AAAAAA

   
Results: 1-18 |
Results: 18
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
EVIDENCE FOR GENETIC-HETEROGENEITY OF THE CARNEY COMPLEX (FAMILIAL ATRIAL-MYXOMA SYNDROMES)
Authors: MILUNSKY J HUANG XL BALDWIN CT FARAH MG MILUNSKY A
Citation: J. Milunsky et al., EVIDENCE FOR GENETIC-HETEROGENEITY OF THE CARNEY COMPLEX (FAMILIAL ATRIAL-MYXOMA SYNDROMES), Cancer genetics and cytogenetics, 106(2), 1998, pp. 173-176
THE TYPE-II COLLAGEN VITAMIN-D-RECEPTOR LOCUS AND OSTEOARTHRITIS - THE FRAMINGHAM OSTEOARTHRITIS STUDY
Authors: BALDWIN CT JOOST O CHAISSON C MCALINDON T FARRER L ORDOVAS J SCHAEFER E LEVY D MYERS R FELSON D
Citation: Ct. Baldwin et al., THE TYPE-II COLLAGEN VITAMIN-D-RECEPTOR LOCUS AND OSTEOARTHRITIS - THE FRAMINGHAM OSTEOARTHRITIS STUDY, Arthritis and rheumatism, 41(9), 1998, pp. 1915-1915
AUTOSOMAL-DOMINANT ORTHOSTATIC HYPOTENSIVE DISORDER MAPS TO CHROMOSOME 18Q
Authors: DESTEFANO AL BALDWIN CT BURZSTYN M GAVRAS I HANDY DE JOOST O MARTEL T NICOLAOU M SCHWARTZ F STREETEN DHP FARRER LA GAVRAS H
Citation: Al. Destefano et al., AUTOSOMAL-DOMINANT ORTHOSTATIC HYPOTENSIVE DISORDER MAPS TO CHROMOSOME 18Q, American journal of human genetics, 63(5), 1998, pp. 1425-1430
THE USE OF CONSANGUINEOUS FAMILIES FROM ISOLATED POPULATIONS TO IDENTIFY GENES FOR RECESSIVE, NON-SYNDROMAL DEAFNESS
Authors: BALDWIN CT FARRER LA BONNETAMIR B
Citation: Ct. Baldwin et al., THE USE OF CONSANGUINEOUS FAMILIES FROM ISOLATED POPULATIONS TO IDENTIFY GENES FOR RECESSIVE, NON-SYNDROMAL DEAFNESS, Cytogenetics and cell genetics, 79(1-2), 1997, pp. 49-49
FAMILIAL PARAGANGLIOMAS - LINKAGE TO CHROMOSOME 11Q23 AND CLINICAL IMPLICATIONS
Authors: MILUNSKY J DESTEFANO AL HUANG XL BALDWIN CT MICHELS VV JAKO G MILUNSKY A
Citation: J. Milunsky et al., FAMILIAL PARAGANGLIOMAS - LINKAGE TO CHROMOSOME 11Q23 AND CLINICAL IMPLICATIONS, American journal of medical genetics, 72(1), 1997, pp. 66-70
GENOME WIDE SEARCH FOR GENES CAUSING FAMILIAR ORTHOSTATIC INTOLERANCESYNDROME
Authors: DESTEFANO AL GAVRAS H BURZSTYN M GAVRAS I HANDY D JOOST O NICOLAOU M STREETEN D FARRER LA BALDWIN CT
Citation: Al. Destefano et al., GENOME WIDE SEARCH FOR GENES CAUSING FAMILIAR ORTHOSTATIC INTOLERANCESYNDROME, American journal of human genetics, 61(4), 1997, pp. 2334-2334
A NOVEL MUTATION IN THE MITF GENE CAUSES WAARDENBURG-SYNDROME TYPE-2
Authors: LAUTENSCHLAGER NT MILUNSKY A DESTEFANO A FARRER L BALDWIN CT
Citation: Nt. Lautenschlager et al., A NOVEL MUTATION IN THE MITF GENE CAUSES WAARDENBURG-SYNDROME TYPE-2, GENET A-BIO, 13(2), 1996, pp. 43-44
LINKAGE OF CONGENITAL RECESSIVE DEAFNESS (GENE DFNB10) TO CHROMOSOME 21Q22.3
Authors: BONNETAMIR B DESTEFANO AL BRIGGS CE ADAIR R FRANKLYN B WEISS S KOROSTISHEVSKY M FRYDMAN M BALDWIN CT FARRER LA
Citation: B. Bonnetamir et al., LINKAGE OF CONGENITAL RECESSIVE DEAFNESS (GENE DFNB10) TO CHROMOSOME 21Q22.3, American journal of human genetics, 58(6), 1996, pp. 1254-1259
LINKAGE OF CONGENITAL, RECESSIVE DEAFNESS (DFNB4) TO CHROMOSOME 7Q31 AND EVIDENCE FOR GENETIC-HETEROGENEITY IN THE MIDDLE-EASTERN DRUZE POPULATION
Authors: BALDWIN CT WEISS S FARRER LA DESTEFANO AL ADAIR R FRANKLYN B KIDD KK KOROSTISHEVSKY M BONNETAMIR B
Citation: Ct. Baldwin et al., LINKAGE OF CONGENITAL, RECESSIVE DEAFNESS (DFNB4) TO CHROMOSOME 7Q31 AND EVIDENCE FOR GENETIC-HETEROGENEITY IN THE MIDDLE-EASTERN DRUZE POPULATION, Human molecular genetics, 4(9), 1995, pp. 1637-1642
MUTATIONS IN PAX3 THAT CAUSE WAARDENBURG SYNDROME TYPE-I - 10 NEW MUTATIONS AND REVIEW OF THE LITERATURE
Authors: BALDWIN CT HOTH CF MACINA RA MILUNSKY A
Citation: Ct. Baldwin et al., MUTATIONS IN PAX3 THAT CAUSE WAARDENBURG SYNDROME TYPE-I - 10 NEW MUTATIONS AND REVIEW OF THE LITERATURE, American journal of medical genetics, 58(2), 1995, pp. 115-122
CHROMOSOME 13Q DELETION WITH WAARDENBURG SYNDROME - FURTHER EVIDENCE FOR A GENE INVOLVED IN NEURAL CREST FUNCTION ON 13Q
Authors: VANCAMP G VANTHIENEN MN HANDIG I VANROY B RAO VS MILUNSKY A READ AP BALDWIN CT FARRER LA BONDUELLE M STANDAERT L MEIRE F WILLEMS PJ
Citation: G. Vancamp et al., CHROMOSOME 13Q DELETION WITH WAARDENBURG SYNDROME - FURTHER EVIDENCE FOR A GENE INVOLVED IN NEURAL CREST FUNCTION ON 13Q, Journal of Medical Genetics, 32(7), 1995, pp. 531-536
LINKAGE OF CONGENITAL, RECESSIVE DEAFNESS (DFNB4) TO HUMAN-CHROMOSOME7Q31 AND EVIDENCE FOR GENETIC-HETEROGENEITY IN THE MIDDLE-EASTERN DRUZE POPULATION
Authors: BALDWIN CT FARRER L WEISS S DESTEFANO AL ADAIR R FRANKLYN B KIDD K KOROSTISHEVSKY M BONNETAMIR B
Citation: Ct. Baldwin et al., LINKAGE OF CONGENITAL, RECESSIVE DEAFNESS (DFNB4) TO HUMAN-CHROMOSOME7Q31 AND EVIDENCE FOR GENETIC-HETEROGENEITY IN THE MIDDLE-EASTERN DRUZE POPULATION, American journal of human genetics, 57(4), 1995, pp. 1192-1192
LINKAGE OF EARLY-ONSET OSTEOARTHRITIS AND CHONDROCALCINOSIS TO HUMAN-CHROMOSOME 8Q
Authors: BALDWIN CT FARRER LA ADAIR R DHARMAVARAM R JIMENEZ S ANDERSON L
Citation: Ct. Baldwin et al., LINKAGE OF EARLY-ONSET OSTEOARTHRITIS AND CHONDROCALCINOSIS TO HUMAN-CHROMOSOME 8Q, American journal of human genetics, 56(3), 1995, pp. 692-697
MUTATIONS IN PAX3 ASSOCIATED WITH WAARDENBURG SYNDROME TYPE-I
Authors: BALDWIN CT LIPSKY NR HOTH CF COHEN T MAMUYA W MILUNSKY A
Citation: Ct. Baldwin et al., MUTATIONS IN PAX3 ASSOCIATED WITH WAARDENBURG SYNDROME TYPE-I, Human mutation, 3(3), 1994, pp. 205-211
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
MUTATIONS IN BOTH THE HOMEO-DOMAIN AND THE PAIRED-DOMAIN OF PAX3 CAUSE WAARDENBURG SYNDROME TYPE-1
Authors: BALDWIN CT LIPSKY NR HOTH CF MAMUYA W MILUNSKY A
Citation: Ct. Baldwin et al., MUTATIONS IN BOTH THE HOMEO-DOMAIN AND THE PAIRED-DOMAIN OF PAX3 CAUSE WAARDENBURG SYNDROME TYPE-1, American journal of human genetics, 53(3), 1993, pp. 1123-1123
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
Risultati: 1-18 |