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Results: 1-19 |
Results: 19
NO EVIDENCE FOR SIGNIFICANT LINKAGE BETWEEN BIPOLAR AFFECTIVE-DISORDER AND CHROMOSOME-18 PERICENTROMERIC MARKERS IN A LARGE SERIES OF MULTIPLEX EXTENDED PEDIGREES
Authors: KNOWLES JA RAO PA COXMATISE T LOTH JE DEJESUS GM LEVINE L DAS K PENCHASZADEH GK ALEXANDER JR LERER B ENDICOTT J OTT J GILLIAM TC BARON M
Citation: Ja. Knowles et al., NO EVIDENCE FOR SIGNIFICANT LINKAGE BETWEEN BIPOLAR AFFECTIVE-DISORDER AND CHROMOSOME-18 PERICENTROMERIC MARKERS IN A LARGE SERIES OF MULTIPLEX EXTENDED PEDIGREES, American journal of human genetics, 62(4), 1998, pp. 916-924
TULP1 MUTATION IN 2 EXTENDED DOMINICAN KINDREDS WITH AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA
Authors: BANERJEE P KLEYN PW KNOWLES JA LEWIS CA ROSS BM PARANO E KOVATS SG LEE JJ PENCHASZADEH GK OTT J JACOBSON SG GILLIAM TC
Citation: P. Banerjee et al., TULP1 MUTATION IN 2 EXTENDED DOMINICAN KINDREDS WITH AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA, Nature genetics, 18(2), 1998, pp. 177-179
HOMOZYGOSITY AND PHYSICAL MAPPING OF THE AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA LOCUS (RP14) ON CHROMOSOME 6P21.3
Authors: BANERJEE P LEWIS CA KLEYN PW SHUGART YY ROSS BM PENCHASZADEH GK OTT J JACOBSON SG GILLIAM TC KNOWLES JA
Citation: P. Banerjee et al., HOMOZYGOSITY AND PHYSICAL MAPPING OF THE AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA LOCUS (RP14) ON CHROMOSOME 6P21.3, Genomics, 48(2), 1998, pp. 171-177
A MULTICOPY TRANSCRIPTION-REPAIR GENE, BTF2P44, MAPS TO THE SMA REGION AND DEMONSTRATES SMA ASSOCIATED DELETIONS
Authors: CARTER TA BONNEMANN CG WANG CH OBICI S PARANO E BONALDO MD ROSS BM PENCHASZADEH GK MACKENZIE A SOARES MB KUNKEL LM GILLIAM TC
Citation: Ta. Carter et al., A MULTICOPY TRANSCRIPTION-REPAIR GENE, BTF2P44, MAPS TO THE SMA REGION AND DEMONSTRATES SMA ASSOCIATED DELETIONS, Human molecular genetics, 6(2), 1997, pp. 229-236
EXTENSIVE DNA DELETION ASSOCIATED WITH SEVERE DISEASE ALLELES ON SPINAL MUSCULAR-ATROPHY HOMOLOGS
Authors: WANG CH CARTER TA DAS K XU J ROSS BM PENCHASZADEH GK GILLIAM TC
Citation: Ch. Wang et al., EXTENSIVE DNA DELETION ASSOCIATED WITH SEVERE DISEASE ALLELES ON SPINAL MUSCULAR-ATROPHY HOMOLOGS, Annals of neurology, 42(1), 1997, pp. 41-49
IDENTIFICATION AND ANALYSIS OF MUTATIONS IN THE WILSON-DISEASE GENE (ATP7B) - POPULATION FREQUENCIES, GENOTYPE-PHENOTYPE CORRELATION, AND FUNCTIONAL ANALYSES
Authors: SHAH AB CHERNOV I ZHANG HT ROSS BM DAS K LUTSENKO S PARANO E PAVONE L EVGRAFOV O IVANOVASMOLENSKAYA IA ANNEREN G WESTERMARK K URRUTIA FH PENCHASZADEH GK STERNLIEB I SCHEINBERG IH GILLIAM TC PETRUKHIN K
Citation: Ab. Shah et al., IDENTIFICATION AND ANALYSIS OF MUTATIONS IN THE WILSON-DISEASE GENE (ATP7B) - POPULATION FREQUENCIES, GENOTYPE-PHENOTYPE CORRELATION, AND FUNCTIONAL ANALYSES, American journal of human genetics, 61(2), 1997, pp. 317-328
CHARACTERIZATION OF SURVIVAL MOTOR-NEURON (SMN(T)) GENE DELETIONS IN ASYMPTOMATIC CARRIERS OF SPINAL MUSCULAR-ATROPHY
Authors: WANG CH XU J CARTER TA ROSS BM DOMINSKI MK BELLCROSS CA PENCHASZADEH GK MUNSAT TL GILLIAM TC
Citation: Ch. Wang et al., CHARACTERIZATION OF SURVIVAL MOTOR-NEURON (SMN(T)) GENE DELETIONS IN ASYMPTOMATIC CARRIERS OF SPINAL MUSCULAR-ATROPHY, Human molecular genetics, 5(3), 1996, pp. 359-365
MOLECULAR CHARACTERIZATION OF GENE DELETIONS IN FAMILIES WITH SPINAL MUSCULAR-ATROPHY AND INTRAFAMILIAL PHENOTYPIC VARIATIONS
Authors: WANG CH CARTER TA XU J DAS K PENCHASZADEH GK GILLIAM TC
Citation: Ch. Wang et al., MOLECULAR CHARACTERIZATION OF GENE DELETIONS IN FAMILIES WITH SPINAL MUSCULAR-ATROPHY AND INTRAFAMILIAL PHENOTYPIC VARIATIONS, Annals of neurology, 40(2), 1996, pp. 32-32
MOLECULAR CHARACTERIZATION OF 5 CANDIDATE GENES IN THE SPINAL MUSCULAR-ATROPHY GENETIC REGION
Authors: WANG CH CARTER TA ROSS BM XU J DAS K PENCHASZADEH GK SOARES MB KUNKEL LM GILLIAM TC
Citation: Ch. Wang et al., MOLECULAR CHARACTERIZATION OF 5 CANDIDATE GENES IN THE SPINAL MUSCULAR-ATROPHY GENETIC REGION, Annals of neurology, 38(3), 1995, pp. 500-500
HOMOZYGOUS ABSENCE OF SMN(T) IN ASYMPTOMATIC CARRIERS OF SPINAL MUSCULAR-ATROPHY
Authors: GILLIAM TC WANG CH XU J CARTER TA BELLCROSS CA PENCHASZADEH GK
Citation: Tc. Gilliam et al., HOMOZYGOUS ABSENCE OF SMN(T) IN ASYMPTOMATIC CARRIERS OF SPINAL MUSCULAR-ATROPHY, American journal of human genetics, 57(4), 1995, pp. 105-105
MUTATION ANALYSIS OF THE WILSON DISEASE GENE IN VARIOUS ETHNIC POPULATIONS
Authors: SHAH AB PETRUKHIN K CHERNOV I ZHANG HT ROSS BM PARANO E PAVANO L EVGRAFOV O IVANOVASMOLENKAYA IA ANNEREN G WESTERMARK K PENCHASZADEH GK STERNLIEB I SCHEINBERG IH GILLIAM TC
Citation: Ab. Shah et al., MUTATION ANALYSIS OF THE WILSON DISEASE GENE IN VARIOUS ETHNIC POPULATIONS, American journal of human genetics, 57(4), 1995, pp. 982-982
ANALYSIS OF THE SURVIVAL MOTOR-NEURON (SMN) GENE IN SPINAL MUSCULAR-ATROPHY FAMILIES
Authors: WANG CH XU J CARTER TA ROSS BM SUGARMAN EA ALLITTO BA PENCHASZADEH GK MUNSAT TL GILLIAM TC
Citation: Ch. Wang et al., ANALYSIS OF THE SURVIVAL MOTOR-NEURON (SMN) GENE IN SPINAL MUSCULAR-ATROPHY FAMILIES, American journal of human genetics, 57(4), 1995, pp. 1468-1468
REFINEMENT OF THE SPINAL MUSCULAR-ATROPHY LOCUS BY GENETIC AND PHYSICAL MAPPING
Authors: WANG CH KLEYN PW VITALE E ROSS BM LIEN L XU J CARTER TA BRZUSTOWICZ LM OBICI S SELIG S PAVONE L PARANO E PENCHASZADEH GK MUNSAT T KUNKEL LM GILLIAM TC
Citation: Ch. Wang et al., REFINEMENT OF THE SPINAL MUSCULAR-ATROPHY LOCUS BY GENETIC AND PHYSICAL MAPPING, American journal of human genetics, 56(1), 1995, pp. 202-209
LINKAGE DISEQUILIBRIUM AND HAPLOTYPE ANALYSIS AMONG POLISH FAMILIES WITH SPINAL MUSCULAR-ATROPHY
Authors: BRZUSTOWICZ LM WANG CH MATSEOANE D KLEYN PW VITALE E DAS K PENCHASZADEH GK MUNSAT TL HAUSMANOWAPETRUSEWICZ I GILLIAM TC
Citation: Lm. Brzustowicz et al., LINKAGE DISEQUILIBRIUM AND HAPLOTYPE ANALYSIS AMONG POLISH FAMILIES WITH SPINAL MUSCULAR-ATROPHY, American journal of human genetics, 56(1), 1995, pp. 210-215
PATERNAL ISODISOMY FOR CHROMOSOME-5 IN A CHILD WITH SPINAL MUSCULAR-ATROPHY
Authors: BRZUSTOWICZ LM ALLITTO BA MATSEOANE D THEVE R MICHAUD L CHATKUPT S SUGARMAN E PENCHASZADEH GK SUSLAK L KOENIGSBERGER MR GILLIAM TC HANDELIN BL
Citation: Lm. Brzustowicz et al., PATERNAL ISODISOMY FOR CHROMOSOME-5 IN A CHILD WITH SPINAL MUSCULAR-ATROPHY, American journal of human genetics, 54(3), 1994, pp. 482-488
MAPPING, CLONING AND GENETIC-CHARACTERIZATION OF THE REGION CONTAINING THE WILSON DISEASE GENE
Authors: PETRUKHIN K FISCHER SG PIRASTU M TANZI RE CHERNOV I DEVOTO M BRZUSTOWICZ LM CAYANIS E VITALE E RUSSO JJ MATSEOANE D BOUKHGALTER B WASCO W FIGUS AL LOUDIANOS J CAO A STERNLIEB I EVGRAFOV O PARANO E PAVONE L WARBURTON D OTT J PENCHASZADEH GK SCHEINBERG IH GILLIAM TC
Citation: K. Petrukhin et al., MAPPING, CLONING AND GENETIC-CHARACTERIZATION OF THE REGION CONTAINING THE WILSON DISEASE GENE, Nature genetics, 5(4), 1993, pp. 338-343
THE WILSON DISEASE GENE IS A COPPER TRANSPORTING ATPASE WITH HOMOLOGYTO THE MENKES DISEASE GENE
Authors: TANZI RE PETRUKHIN K CHERNOV I PELLEQUER JL WASCO W ROSS B ROMANO DM PARANO E PAVONE L BRZUSTOWICZ LM DEVOTO M PEPPERCORN J BUSH AI STERNLIEB I PIRASTU M GUSELLA JF EVGRAFOV O PENCHASZADEH GK HONIG B EDELMAN IS SOARES MB SCHEINBERG IH GILLIAM TC
Citation: Re. Tanzi et al., THE WILSON DISEASE GENE IS A COPPER TRANSPORTING ATPASE WITH HOMOLOGYTO THE MENKES DISEASE GENE, Nature genetics, 5(4), 1993, pp. 344-350
LINKAGE DISEQUILIBRIUM AND HAPLOTYPE ANALYSIS AMONG POLISH FAMILIESS WITH S PINAL MUSCULAR-ATROPHY
Authors: BRZUSTOWICZ LM MATSEOANE D WANG CH KLEYN PW VITALE E PENCHASZADEH GK HAUSMANOWAPETRUSEWICZ I GILLIAM TC
Citation: Lm. Brzustowicz et al., LINKAGE DISEQUILIBRIUM AND HAPLOTYPE ANALYSIS AMONG POLISH FAMILIESS WITH S PINAL MUSCULAR-ATROPHY, American journal of human genetics, 53(3), 1993, pp. 982-982
ASSESSMENT OF NONALLELIC GENETIC-HETEROGENEITY OF CHRONIC (TYPE-II AND TYPE-III) SPINAL MUSCULAR-ATROPHY
Authors: BRZUSTOWICZ LM MERETTE C KLEYN PW LEHNER T CASTILLA LH PENCHASZADEH GK DAS K MUNSAT TL OTT J GILLIAM TC
Citation: Lm. Brzustowicz et al., ASSESSMENT OF NONALLELIC GENETIC-HETEROGENEITY OF CHRONIC (TYPE-II AND TYPE-III) SPINAL MUSCULAR-ATROPHY, Human heredity, 43(6), 1993, pp. 380-387
Risultati: 1-19 |