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Results: 1-24 |
Results: 24
CONSTRUCTION OF A 2.5-MB INTEGRATED PHYSICAL AND GENE MAP OF DISTAL 21Q22.3
Authors: LAPENTA V SOSSI V GOSSET P VAYSSETTES C VITALI T RABATEL N TASSONE F BLOUIN JL SCOTT HS ANTONARAKIS SE CREAU N BRAHE C
Citation: V. Lapenta et al., CONSTRUCTION OF A 2.5-MB INTEGRATED PHYSICAL AND GENE MAP OF DISTAL 21Q22.3, Genomics, 49(1), 1998, pp. 1-13
ALZHEIMER,ALOIS AND PERUSINI,GAETANO - SHOULD MAN DIVIDE WHAT FATE UNITED
Authors: MACCHI G BRAHE C POMPONI M
Citation: G. Macchi et al., ALZHEIMER,ALOIS AND PERUSINI,GAETANO - SHOULD MAN DIVIDE WHAT FATE UNITED, European journal of neurology, 4(3), 1997, pp. 210-213
HUMAN COL6A1 - GENOMIC CHARACTERIZATION OF THE GLOBULAR DOMAINS, STRUCTURAL AND EVOLUTIONARY COMPARISON WITH COL6A2
Authors: TRIKKA D DAVIS T LAPENTA V BRAHE C KESSLING AM
Citation: D. Trikka et al., HUMAN COL6A1 - GENOMIC CHARACTERIZATION OF THE GLOBULAR DOMAINS, STRUCTURAL AND EVOLUTIONARY COMPARISON WITH COL6A2, Mammalian genome, 8(5), 1997, pp. 342-345
SMT3A, A HUMAN HOMOLOG OF THE S-CEREVISIAE-SMT3 GENE, MAPS TO CHROMOSOME-21QTER AND DEFINES A NOVEL GENE FAMILY
Authors: LAPENTA V CHIURAZZI P VANDERSPEK P PIZZUTI A HANAOKA F BRAHE C
Citation: V. Lapenta et al., SMT3A, A HUMAN HOMOLOG OF THE S-CEREVISIAE-SMT3 GENE, MAPS TO CHROMOSOME-21QTER AND DEFINES A NOVEL GENE FAMILY, Genomics, 40(2), 1997, pp. 362-366
REPORT OF THE 6TH INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-21 MAPPING 1996
Authors: KORENBERG JR AALTONEN J BRAHE C CABIN D CREAU N DELABAR JM DOERING J GARDINER K HUBERT RS IVES J KESSLING A KUDOH J LAFRENIERE R MURAKAMI Y OHIRA M OHKI M PATTERSON D POTIER MC QUACKENBUSH J REEVES RH SAKAKI Y SHIMIZU N SOEDA E VANBROECKHOVEN C YASPO ML
Citation: Jr. Korenberg et al., REPORT OF THE 6TH INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-21 MAPPING 1996, Cytogenetics and cell genetics, 79(1-2), 1997, pp. 22-34
TOWARDS THE CONSTRUCTION OF A HIGH-RESOLUTION PHYSICAL AND CONTIGUOUSMAP COVERING 4 MB OF THE DISTAL PART OF CHROMOSOME-21
Authors: CREAU N LAPENTA V VAYSSETTES C RABATEL N MAUNOURY C BRAHE C
Citation: N. Creau et al., TOWARDS THE CONSTRUCTION OF A HIGH-RESOLUTION PHYSICAL AND CONTIGUOUSMAP COVERING 4 MB OF THE DISTAL PART OF CHROMOSOME-21, Cytogenetics and cell genetics, 79(1-2), 1997, pp. 35-35
A HUMAN HOMOLOG OF THE SACCHAROMYCES-CEREVISIAE SMT3 GENE MAPS TO THETELOMERIC REGION OF 21Q
Authors: LAPENTA V CHIURAZZI P VANDERSPEK P PIZZUTI A BRAHE C
Citation: V. Lapenta et al., A HUMAN HOMOLOG OF THE SACCHAROMYCES-CEREVISIAE SMT3 GENE MAPS TO THETELOMERIC REGION OF 21Q, Cytogenetics and cell genetics, 77, 1997, pp. 13-13
PARTIAL 9P MONOSOMY IN A GIRL WITH A TDIC(9P23-13P11) TRANSLOCATION, MINOR ANOMALIES, OBESITY, AND MENTAL-RETARDATION
Authors: SERRA A BOVA R BELLANOVA G CHINDEMI A ZAPPATA S BRAHE C
Citation: A. Serra et al., PARTIAL 9P MONOSOMY IN A GIRL WITH A TDIC(9P23-13P11) TRANSLOCATION, MINOR ANOMALIES, OBESITY, AND MENTAL-RETARDATION, American journal of medical genetics, 71(2), 1997, pp. 139-143
IMMUNOCYTOCHEMICAL LOCALIZATION OF THE SURVIVAL MOTOR-NEURON (SMN) PROTEIN IN AMNIOCYTES AND FIBROBLASTS OF SMA PATIENTS
Authors: BRAHE C TIZIANO F PATRIZI AL DONATI MA DREYFUSS G NERI G
Citation: C. Brahe et al., IMMUNOCYTOCHEMICAL LOCALIZATION OF THE SURVIVAL MOTOR-NEURON (SMN) PROTEIN IN AMNIOCYTES AND FIBROBLASTS OF SMA PATIENTS, American journal of human genetics, 61(4), 1997, pp. 1913-1913
FRAMESHIFT MUTATION IN THE SURVIVAL MOTOR-NEURON GENE IN A SEVERE CASE OF SMA TYPE-I
Authors: BRAHE C CLERMONT O ZAPPATA S TIZIANO F MELKI J NERI G
Citation: C. Brahe et al., FRAMESHIFT MUTATION IN THE SURVIVAL MOTOR-NEURON GENE IN A SEVERE CASE OF SMA TYPE-I, Human molecular genetics, 5(12), 1996, pp. 1971-1976
SPINAL MUSCULAR ATROPHIES - RECENT INSIGHTS AND IMPACT ON MOLECULAR DIAGNOSIS
Authors: BRAHE C BERTINI E
Citation: C. Brahe et E. Bertini, SPINAL MUSCULAR ATROPHIES - RECENT INSIGHTS AND IMPACT ON MOLECULAR DIAGNOSIS, Journal of molecular medicine, 74(10), 1996, pp. 555-562
DELETIONS IN THE SMN GENE IN INFANTILE AND ADULT SPINAL MUSCULAR-ATROPHY PATIENTS FROM THE SAME FAMILY
Authors: ZAPPATA S TIZIANO F NERI G BRAHE C
Citation: S. Zappata et al., DELETIONS IN THE SMN GENE IN INFANTILE AND ADULT SPINAL MUSCULAR-ATROPHY PATIENTS FROM THE SAME FAMILY, Human genetics, 97(3), 1996, pp. 315-318
BENIGN MONOMELIC AMYOTROPHIES OF UPPER AND LOWER-LIMB ARE NOT ASSOCIATED TO DELETIONS OF SURVIVAL MOTOR-NEURON GENE
Authors: DIGUGLIELMO G BRAHE C DIMUZIO A UNCINI A
Citation: G. Diguglielmo et al., BENIGN MONOMELIC AMYOTROPHIES OF UPPER AND LOWER-LIMB ARE NOT ASSOCIATED TO DELETIONS OF SURVIVAL MOTOR-NEURON GENE, Journal of the neurological sciences, 141(1-2), 1996, pp. 111-113
APPARENT GENE CONVERSIONS INVOLVING THE SMN GENE IN THE REGION OF THESPINAL MUSCULAR-ATROPHY LOCUS ON CHROMOSOME-5
Authors: VANDERSTEEGE G GROOTSCHOLTEN PM COBBEN JM ZAPPATA S SCHEFFER H DENDUNNEN JT VANOMMEN GJB BRAHE C BUYS CHCM
Citation: G. Vandersteege et al., APPARENT GENE CONVERSIONS INVOLVING THE SMN GENE IN THE REGION OF THESPINAL MUSCULAR-ATROPHY LOCUS ON CHROMOSOME-5, American journal of human genetics, 59(4), 1996, pp. 834-838
A PROVISIONAL TRANSCRIPT MAP OF THE SPINAL MUSCULAR-ATROPHY (SMA) CRITICAL REGION
Authors: VANDERSTEEGE G DRAAIJERS TG GROOTSCHOLTEN PM OSINGA J ANZEVINO R VELONA I DENDUNNEN JT SCHEFFER H BRAHE C VANOMMEN GJB BUYS CHCM
Citation: G. Vandersteege et al., A PROVISIONAL TRANSCRIPT MAP OF THE SPINAL MUSCULAR-ATROPHY (SMA) CRITICAL REGION, European journal of human genetics, 3(2), 1995, pp. 87-95
DELETION ANALYSIS OF THE SURVIVAL MOTOR-NEURON GENE - CONFIRMATION OFA POWERFUL DIAGNOSTIC-TOOL IN CHILDHOOD PROXIMAL SPINAL MUSCULAR-ATROPHY
Authors: BERTINI E ZAPPATA S SERVIDEI S PIANTADOSI C RICCI E CUSMAI R TONALI P NERI G BRAHE C
Citation: E. Bertini et al., DELETION ANALYSIS OF THE SURVIVAL MOTOR-NEURON GENE - CONFIRMATION OFA POWERFUL DIAGNOSTIC-TOOL IN CHILDHOOD PROXIMAL SPINAL MUSCULAR-ATROPHY, Annals of neurology, 38(3), 1995, pp. 500-500
PRESYMPTOMATIC DIAGNOSIS OF SPINAL MUSCULAR-ATROPHY (SMA)-III CONFIRMED BY DELETION ANALYSIS OF THE SURVIVAL MOTOR-NEURON GENE
Authors: BRAHE C ZAPPATA S BERTINI E
Citation: C. Brahe et al., PRESYMPTOMATIC DIAGNOSIS OF SPINAL MUSCULAR-ATROPHY (SMA)-III CONFIRMED BY DELETION ANALYSIS OF THE SURVIVAL MOTOR-NEURON GENE, American journal of medical genetics, 59(1), 1995, pp. 101-102
GENETIC HOMOGENEITY BETWEEN CHILDHOOD-ONSET AND ADULT-ONSET AUTOSOMALRECESSIVE SPINAL MUSCULAR-ATROPHY
Authors: BRAHE C SERVIDEI S ZAPPATA S RICCI E TONALI P NERI G
Citation: C. Brahe et al., GENETIC HOMOGENEITY BETWEEN CHILDHOOD-ONSET AND ADULT-ONSET AUTOSOMALRECESSIVE SPINAL MUSCULAR-ATROPHY, Lancet, 346(8977), 1995, pp. 741-742
DELETION ANALYSIS OF THE SMN GENE IN INFANTILE AND ADULT SPINAL MUSCULAR-ATROPHY
Authors: BRAHE C ZAPPATA S TIZIANO F GANDOLFI N PARAVATOUPETSOTAS M NERI G
Citation: C. Brahe et al., DELETION ANALYSIS OF THE SMN GENE IN INFANTILE AND ADULT SPINAL MUSCULAR-ATROPHY, American journal of human genetics, 57(4), 1995, pp. 1199-1199
IDENTIFICATION OF KEY RECOMBINANTS IN MULTIPLEX SMA FAMILIES
Authors: VANDERSTEEGE G COBBEN JM BRAHE C OSINGA J ZAPPATA S SCHEFFER H NERI G VANOMMEN GJB BUYS CHCM TENKATE LP
Citation: G. Vandersteege et al., IDENTIFICATION OF KEY RECOMBINANTS IN MULTIPLEX SMA FAMILIES, Genomics, 22(1), 1994, pp. 219-222
MAPPING OF 2 NEW MARKERS WITHIN THE SMALLEST INTERVAL HARBORING THE SPINAL MUSCULAR-ATROPHY LOCUS BY FAMILY AND RADIATION HYBRID ANALYSIS
Authors: BRAHE C VELONA I VANDERSTEEGE G ZAPPATA S VANDEVEEN AY OSINGA J TOPS CMJ FODDE R KHAN PM BUYS CHCM NERI G
Citation: C. Brahe et al., MAPPING OF 2 NEW MARKERS WITHIN THE SMALLEST INTERVAL HARBORING THE SPINAL MUSCULAR-ATROPHY LOCUS BY FAMILY AND RADIATION HYBRID ANALYSIS, Human genetics, 93(5), 1994, pp. 494-501
HIGHLY POLYMORPHIC REPEAT MARKER WITHIN THE BETA-AMYLOID PRECURSOR PROTEIN GENE
Authors: ZAPPATA S PETERSEN MB KONIG U BLASCHAK J CHAKRAVARTI A TASSONE F SERRA A ANTONARAKIS SE BRAHE C
Citation: S. Zappata et al., HIGHLY POLYMORPHIC REPEAT MARKER WITHIN THE BETA-AMYLOID PRECURSOR PROTEIN GENE, Human genetics, 93(1), 1994, pp. 85-86
DINUCLEOTIDE REPEAT POLYMORPHISM PROXIMAL TO THE SPINAL MUSCULAR-ATROPHY REGION AT THE D5S524 LOCUS
Authors: VELONA I ZAPPATA S TOPS CMJ FODDE R KHAN PM NERI G BRAHE C
Citation: I. Velona et al., DINUCLEOTIDE REPEAT POLYMORPHISM PROXIMAL TO THE SPINAL MUSCULAR-ATROPHY REGION AT THE D5S524 LOCUS, Human molecular genetics, 2(6), 1993, pp. 829-829
A LINKAGE MAP OF HUMAN CHROMOSOME-21 - 43 PCR MARKERS AT AVERAGE INTERVALS OF 2.5 CM
Authors: MCINNIS MG CHAKRAVARTI A BLASCHAK J PETERSEN MB SHARMA V AVRAMOPOULOS D BLOUIN JL KONIG U BRAHE C MATISE TC WARREN AC TALBOT CC VANBROECKHOVEN C LITT M ANTONARAKIS SE
Citation: Mg. Mcinnis et al., A LINKAGE MAP OF HUMAN CHROMOSOME-21 - 43 PCR MARKERS AT AVERAGE INTERVALS OF 2.5 CM, Genomics, 16(3), 1993, pp. 562-571
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