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Results: 76-100/176
PARTIAL CORRECTION OF A SEVERE MOLECULAR DEFECT IN HEMOPHILIA-A, BECAUSE OF ERRORS DURING EXPRESSION OF THE FACTOR-VIII GENE
Authors: YOUNG M INABA H HOYER LW HIGUCHI M KAZAZIAN HH ANTONARAKIS SE
Citation: M. Young et al., PARTIAL CORRECTION OF A SEVERE MOLECULAR DEFECT IN HEMOPHILIA-A, BECAUSE OF ERRORS DURING EXPRESSION OF THE FACTOR-VIII GENE, American journal of human genetics, 60(3), 1997, pp. 565-573
MAPPING ONE FORM OF AUTOSOMAL-DOMINANT POSTAXIAL POLYDACTYLY TYPE-A TO CHROMOSOME 7P15-Q11.23 BY LINKAGE ANALYSIS
Authors: RADHAKRISHNA U BLOUIN JL MEHENNI H PATEL UC PATEL MN SOLANKI JV ANTONARAKIS SE
Citation: U. Radhakrishna et al., MAPPING ONE FORM OF AUTOSOMAL-DOMINANT POSTAXIAL POLYDACTYLY TYPE-A TO CHROMOSOME 7P15-Q11.23 BY LINKAGE ANALYSIS, American journal of human genetics, 60(3), 1997, pp. 597-604
IDENTIFICATION OF MUTATIONS IN CYSTATIN B, THE GENE RESPONSIBLE FOR THE UNVERRICHT-LUNDBORG TYPE OF PROGRESSIVE MYOCLONUS EPILEPSY (EPM1)
Authors: LALIOTI MD MIROTSOU M BURESI C PEITSCH MC ROSSIER C OUAZZANI R BALDYMOULINIER M BOTTANI A MALAFOSSE A ANTONARAKIS SE
Citation: Md. Lalioti et al., IDENTIFICATION OF MUTATIONS IN CYSTATIN B, THE GENE RESPONSIBLE FOR THE UNVERRICHT-LUNDBORG TYPE OF PROGRESSIVE MYOCLONUS EPILEPSY (EPM1), American journal of human genetics, 60(2), 1997, pp. 342-351
A METHOD FOR THE EXTRACTION OF GENOMIC DNA FROM HUMAN BRAIN-TISSUE FIXED AND STORED IN FORMALIN FOR MANY YEARS
Authors: SAVIOZ A BLOUIN JL GUIDI S ANTONARAKIS SE BOURAS C
Citation: A. Savioz et al., A METHOD FOR THE EXTRACTION OF GENOMIC DNA FROM HUMAN BRAIN-TISSUE FIXED AND STORED IN FORMALIN FOR MANY YEARS, Acta Neuropathologica, 93(4), 1997, pp. 408-413
UPDATE ON NOMENCLATURE FOR HUMAN GENE-MUTATIONS
Authors: BEAUDET AL ANTONARAKIS SE BEUTLER E COTTON RGH DESNICK RJ KAZAZIAN HH MCALPINE PJ MCKUSICK A MOTULSKY AG SCRIVER CR SHOWS TB TSUI LC VALLE D
Citation: Al. Beaudet et al., UPDATE ON NOMENCLATURE FOR HUMAN GENE-MUTATIONS, Human mutation, 8(3), 1996, pp. 197-202
2 NOVEL MUTATION AFFECTING MESSENGER-RNA SPLICING OF THE NEUROFIBROMATOSIS TYPE-1 (NF1) GENE
Authors: PERRIN G MORRIS MA ANTONARAKIS SE BOLTSHAUSER E HUTTER P
Citation: G. Perrin et al., 2 NOVEL MUTATION AFFECTING MESSENGER-RNA SPLICING OF THE NEUROFIBROMATOSIS TYPE-1 (NF1) GENE, Human mutation, 7(2), 1996, pp. 172-175
CLONING OF 559 POTENTIAL EXONS OF GENES OF HUMAN-CHROMOSOME-21 BY EXON TRAPPING
Authors: CHEN H CHRAST R ROSSIER C MORRIS MA LALIOTI MD ANTONARAKIS SE
Citation: H. Chen et al., CLONING OF 559 POTENTIAL EXONS OF GENES OF HUMAN-CHROMOSOME-21 BY EXON TRAPPING, PCR methods and applications, 6(8), 1996, pp. 747-760
MAPPING BY SEQUENCE HOMOLOGY
Authors: ANTONARAKIS SE
Citation: Se. Antonarakis, MAPPING BY SEQUENCE HOMOLOGY, European journal of human genetics, 4(5), 1996, pp. 247-249
CLONING OF A HUMAN HOMOLOG OF THE DROSOPHILA-ENHANCER-OF-ZESTE GENE (EZH2) THAT MAPS TO CHROMOSOME 21Q22.2
Authors: CHEN HM ROSSIER C ANTONARAKIS SE
Citation: Hm. Chen et al., CLONING OF A HUMAN HOMOLOG OF THE DROSOPHILA-ENHANCER-OF-ZESTE GENE (EZH2) THAT MAPS TO CHROMOSOME 21Q22.2, Genomics, 38(1), 1996, pp. 30-37
LOCALIZATION OF A HUMAN HOMOLOG OF THE MOUSE PERICENTRIN GENE (PCNT) TO CHROMOSOME 21QTER
Authors: CHEN HM GOS A MORRIS MA ANTONARAKIS SE
Citation: Hm. Chen et al., LOCALIZATION OF A HUMAN HOMOLOG OF THE MOUSE PERICENTRIN GENE (PCNT) TO CHROMOSOME 21QTER, Genomics, 35(3), 1996, pp. 620-624
CLONING THE CDNA OF HUMAN PWP2 WHICH ENCODES A PROTEIN WITH WD REPEATS AND MAPS TO 21Q22.3
Authors: LALIOTI MD CHEN HM ROSSIER C SHAFAATIAN R REID JD ANTONARAKIS SE
Citation: Md. Lalioti et al., CLONING THE CDNA OF HUMAN PWP2 WHICH ENCODES A PROTEIN WITH WD REPEATS AND MAPS TO 21Q22.3, Genomics, 35(2), 1996, pp. 321-327
THE GENE FOR HUMAN U2 SNRNP AUXILIARY FACTOR SMALL 35-KDA SUBUNIT (U2AF1) MAPS TO THE PROGRESSIVE MYOCLONUS EPILEPSY (EPM1) CRITICAL REGIONON CHROMOSOME 21Q22.3
Authors: LALIOTI MD GOS A GREEN MR ROSSIER C MORRIS MA ANTONARAKIS SE
Citation: Md. Lalioti et al., THE GENE FOR HUMAN U2 SNRNP AUXILIARY FACTOR SMALL 35-KDA SUBUNIT (U2AF1) MAPS TO THE PROGRESSIVE MYOCLONUS EPILEPSY (EPM1) CRITICAL REGIONON CHROMOSOME 21Q22.3, Genomics, 33(2), 1996, pp. 298-300
MAPPING OF THE GENE FOR THE P60 SUBUNIT OF THE HUMAN CHROMATIN ASSEMBLY FACTOR (CAF1A) TO THE DOWN-SYNDROME REGION OF CHROMOSOME-21
Authors: BLOUIN JL DURIAUXSAIL G CHEN HM GOS A MORRIS MA ROSSIER C ANTONARAKIS SE
Citation: Jl. Blouin et al., MAPPING OF THE GENE FOR THE P60 SUBUNIT OF THE HUMAN CHROMATIN ASSEMBLY FACTOR (CAF1A) TO THE DOWN-SYNDROME REGION OF CHROMOSOME-21, Genomics, 33(2), 1996, pp. 309-312
CLONING OF THE CDNA FOR A HUMAN HOMOLOG OF THE RAT PEP-19 GENE AND MAPPING TO CHROMOSOME 21Q22.2-Q22.3
Authors: CHEN HM BOURAS C ANTONARAKIS SE
Citation: Hm. Chen et al., CLONING OF THE CDNA FOR A HUMAN HOMOLOG OF THE RAT PEP-19 GENE AND MAPPING TO CHROMOSOME 21Q22.2-Q22.3, Human genetics, 98(6), 1996, pp. 672-677
YAC AND COSMID FISH MAPPING OF AN UNBALANCED CHROMOSOMAL TRANSLOCATION CAUSING PARTIAL TRISOMY-21 AND DOWN-SYNDROME
Authors: NADAL M MILA M PRITCHARD M MUR A PUJALS J BLOUIN JL ANTONARAKIS SE BALLESTA F ESTIVILL X
Citation: M. Nadal et al., YAC AND COSMID FISH MAPPING OF AN UNBALANCED CHROMOSOMAL TRANSLOCATION CAUSING PARTIAL TRISOMY-21 AND DOWN-SYNDROME, Human genetics, 98(4), 1996, pp. 460-466
THE HUMAN LANOSTEROL SYNTHASE GENE MAPS TO CHROMOSOME 21Q22.3
Authors: YOUNG M CHEN HM LALIOTI MD ANTONARAKIS SE
Citation: M. Young et al., THE HUMAN LANOSTEROL SYNTHASE GENE MAPS TO CHROMOSOME 21Q22.3, Human genetics, 97(5), 1996, pp. 620-624
THE HEMOPHILIA-A MUTATION SEARCH TEST AND RESOURCE SITE, HOME PAGE OFTHE FACTOR-VIII MUTATION DATABASE - HAMSTERS (VOL 24, PG 100, 1996)
Authors: WACEY AI KEMBALLCOOK G KAZAZIAN HH ANTONARAKIS SE SCHWAAB R LINDLEY P TUDDENHAM EGD
Citation: Ai. Wacey et al., THE HEMOPHILIA-A MUTATION SEARCH TEST AND RESOURCE SITE, HOME PAGE OFTHE FACTOR-VIII MUTATION DATABASE - HAMSTERS (VOL 24, PG 100, 1996), Nucleic acids research, 24(3), 1996, pp. 542-542
THE HEMOPHILIA-A MUTATION SEARCH TEST AND RESOURCE SITE, HOME PAGE OFTHE FACTOR-VIII MUTATION DATABASE - HAMSTERS
Authors: WACEY AI KEMBALLCOOK G KAZAZIAN HH ANTONARAKIS SE SCHWAAB R LINDLEY P TUDDENHAM EGD
Citation: Ai. Wacey et al., THE HEMOPHILIA-A MUTATION SEARCH TEST AND RESOURCE SITE, HOME PAGE OFTHE FACTOR-VIII MUTATION DATABASE - HAMSTERS, Nucleic acids research, 24(1), 1996, pp. 100-102
THE 21Q22.1-STS-MARKER, VN02 (EST00541 CDNA), IS PART OF THE 3' SEQUENCE OF THE HUMAN NA+ MYO-INOSITOL COTRANSPORTER (SLC5A3)/
Authors: BERRY GT MALLEE JJ BLOUIN JL ANTONARAKIS SE
Citation: Gt. Berry et al., THE 21Q22.1-STS-MARKER, VN02 (EST00541 CDNA), IS PART OF THE 3' SEQUENCE OF THE HUMAN NA+ MYO-INOSITOL COTRANSPORTER (SLC5A3)/, Cytogenetics and cell genetics, 73(1-2), 1996, pp. 77-78
ADDITIONAL SUPPORT FOR SCHIZOPHRENIA LINKAGE ON CHROMOSOME-6 AND CHROMOSOME-8 - A MULTICENTER STUDY
Authors: LEVINSON DF WILDENAUER DB SCHWAB SG ALBUS M HALLMAYER J LERER B MAIER W BLACKWOOD D MUIR W STCLAIR D MORRIS S MOISES HW YANG L KRISTBJARNARSON H HELGASON T WIESE C COLLIER DA HOLMANS P DANIELS J REES M ASHERSON P ROBERTS Q CARDNO A ARRANZ MJ VALLADA H MCGUFFIN D OWEN MJ PULVER AE ANTONARAKIS SE BABB R BLOUIN JL DEMARCHI N DOMBROSKI B HOUSMAN D KARAYIORGOU M OTT J KASCH L KAZAZIAN H LASSETER VK LOETSCHER E LUEBBERT H NESTADT G TON C WOLYNIEC PS LAURENT C DECHALDEE M THIBAUT F JAY M SAMOLYK D PETIT M CAMPION D MALLET J STRAUB RE MACLEAN CJ EASTER SM ONEILL FA WALSH D KENDLER KS GEJMAN PV CAO QH GERSHON E BADNER J BESHAH E ZHANG J RILEY BP RAJAGOPALAN S MOGUDICARTER M JENKINS T WILLIAMSON R DELISI LE GARNER C KELLY M LEDUC C CARDON L LICHTER J HARRIS T LOFTUS J SHIELDS G COMASI M VITA A SMITH A DANN J JOSLYN G GURLING H KALSI G BRYNJOLFSSON J CURTIS D SIGMUNDSSON T BUTLER R READ T MURPHY P CHEN ACH PETURSSON H BYERLEY B HOFF M HOLIK J COON H NANCARROW DJ CROWE RR ANDREASEN N SILVERMAN JM MOHS RC SIEVER LJ ENDICOTT J SHARPE L WALTERS MK LENNON DP HAYWARD NK SANDKUIJL LA MOWRY BJ ASCHAUER HN MESZAROS K LENZINGER E FUCHS K HEIDEN AM KRUGLYAK L DALY MJ MATISE TC
Citation: Df. Levinson et al., ADDITIONAL SUPPORT FOR SCHIZOPHRENIA LINKAGE ON CHROMOSOME-6 AND CHROMOSOME-8 - A MULTICENTER STUDY, American journal of medical genetics, 67(6), 1996, pp. 580-594
AN AUTOSOMAL-DOMINANT TRIPHALANGEAL THUMB - POLYSYNDACTYLY SYNDROME WITH VARIABLE EXPRESSION IN A LARGE INDIAN FAMILY MAPS TO 7Q36
Authors: RADHAKRISHNA U BLOUIN JL SOLANKI JV DHORIANI GM ANTONARAKIS SE
Citation: U. Radhakrishna et al., AN AUTOSOMAL-DOMINANT TRIPHALANGEAL THUMB - POLYSYNDACTYLY SYNDROME WITH VARIABLE EXPRESSION IN A LARGE INDIAN FAMILY MAPS TO 7Q36, American journal of medical genetics, 66(2), 1996, pp. 209-215
THE JOHNS-HOPKINS-UNIVERSITY COLLABORATIVE SCHIZOPHRENIA STUDY - AN EPIDEMIOLOGIC-GENETIC APPROACH TO TEST THE HETEROGENEITY HYPOTHESIS ANDIDENTIFY SCHIZOPHRENIA SUSCEPTIBILITY GENES
Authors: PULVER AE WOLYNIEC PS HOUSMAN D KAZAZIAN HH ANTONARAKIS SE NESTADT G LASSETER VK MCGRATH JA DOMBROSKI B KARAYIORGOU M TON C BLOUIN JL KEMPF L
Citation: Ae. Pulver et al., THE JOHNS-HOPKINS-UNIVERSITY COLLABORATIVE SCHIZOPHRENIA STUDY - AN EPIDEMIOLOGIC-GENETIC APPROACH TO TEST THE HETEROGENEITY HYPOTHESIS ANDIDENTIFY SCHIZOPHRENIA SUSCEPTIBILITY GENES, Cold Spring Harbor Symposia on Quantitative Biology, 61, 1996, pp. 797-814
GENOTYPE AND PHENOTYPE ANALYSIS AT THE 22Q11 SCHIZOPHRENIA SUSCEPTIBILITY LOCUS
Authors: KARAYIORGOU M GOGOS JA GALKE BL JEFFERY JA NESTADT G WOLYNIEC PS ANTONARAKIS SE KAZAZIAN HH HOUSMAN DE DRISCOLL DA PULVER AE
Citation: M. Karayiorgou et al., GENOTYPE AND PHENOTYPE ANALYSIS AT THE 22Q11 SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, Cold Spring Harbor Symposia on Quantitative Biology, 61, 1996, pp. 835-843
COMPLEX GENETIC PREDISPOSITION TO CANCER IN AN EXTENDED HNPCC FAMILY WITH AN ANCESTRAL HMLH1 MUTATION
Authors: HUTTER P COUTURIER A SCOTT RJ ALDAY P DELOZIERBLANCHET C CACHAT F ANTONARAKIS SE JORIS F GAUDIN M DAMATO L BUERSTEDDE JM
Citation: P. Hutter et al., COMPLEX GENETIC PREDISPOSITION TO CANCER IN AN EXTENDED HNPCC FAMILY WITH AN ANCESTRAL HMLH1 MUTATION, Journal of Medical Genetics, 33(8), 1996, pp. 636-640
MAPPING OF THE HUMAN HOLOCARBOXYLASE SYNTHETASE GENE (HCS) TO THE DOWN-SYNDROME CRITICAL REGION OF CHROMOSOME 21Q22
Authors: BLOUIN JL SAIL GD ANTONARAKIS SE
Citation: Jl. Blouin et al., MAPPING OF THE HUMAN HOLOCARBOXYLASE SYNTHETASE GENE (HCS) TO THE DOWN-SYNDROME CRITICAL REGION OF CHROMOSOME 21Q22, Annales de genetique, 39(3), 1996, pp. 185-188
Risultati: 1-25 | 26-50 | 51-75 | 76-100 | >>