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Results: 1-24 |
Results: 24
THE ROLE OF THE SMN GENE IN PROXIMAL SPINAL MUSCULAR-ATROPHY
Authors: LEFEBVRE S BURGLEN L FREZAL J MUNNICH A MELKI J
Citation: S. Lefebvre et al., THE ROLE OF THE SMN GENE IN PROXIMAL SPINAL MUSCULAR-ATROPHY, Human molecular genetics (Print), 7(10), 1998, pp. 1531-1536
DE-NOVO DELETIONS IN SPINAL MUSCULAR-ATROPHY - IMPLICATIONS FOR GENETIC-COUNSELING
Authors: RACLIN V VEBER PS BURGLEN L MUNNICH A MELKI J
Citation: V. Raclin et al., DE-NOVO DELETIONS IN SPINAL MUSCULAR-ATROPHY - IMPLICATIONS FOR GENETIC-COUNSELING, Journal of Medical Genetics, 34(1), 1997, pp. 86-87
THE GENE ENCODING P44, A SUBUNIT OF THE TRANSCRIPTION FACTOR TFIIH, IS INVOLVED IN LARGE-SCALE DELETIONS ASSOCIATED WITH WERDNIG-HOFFMANN DISEASE
Authors: BURGLEN L SEROZ T MINIOU P LEFEBVRE S BURLET P MUNNICH A PEQUIGNOT EV EGLY JM MELKI J
Citation: L. Burglen et al., THE GENE ENCODING P44, A SUBUNIT OF THE TRANSCRIPTION FACTOR TFIIH, IS INVOLVED IN LARGE-SCALE DELETIONS ASSOCIATED WITH WERDNIG-HOFFMANN DISEASE, American journal of human genetics, 60(1), 1997, pp. 72-79
STRUCTURE AND ORGANIZATION OF THE HUMAN SURVIVAL MOTOR-NEURON (SMN) GENE
Authors: BURGLEN L LEFEBVRE S CLERMONT O BURLET P VIOLLET L CRUAUD C MUNNICH A MELKI J
Citation: L. Burglen et al., STRUCTURE AND ORGANIZATION OF THE HUMAN SURVIVAL MOTOR-NEURON (SMN) GENE, Genomics, 32(3), 1996, pp. 479-482
LARGE-SCALE DELETIONS OF THE 5Q13 REGION ARE SPECIFIC TO WERDNIG-HOFFMANN DISEASE
Authors: BURLET P BURGLEN L CLERMONT O LEFEBVRE S VIOLLET L MUNNICH A MELKI J
Citation: P. Burlet et al., LARGE-SCALE DELETIONS OF THE 5Q13 REGION ARE SPECIFIC TO WERDNIG-HOFFMANN DISEASE, Journal of Medical Genetics, 33(4), 1996, pp. 281-283
SURVIVAL MOTOR-NEURON GENE DELETION IN THE ARTHROGRYPOSIS MULTIPLEX CONGENITA-SPINAL MUSCULAR-ATROPHY ASSOCIATION
Authors: BURGLEN L AMIEL J VIOLLET L LEFEBVRE S BURLET P CLERMONT O RACLIN V LANDRIEU P VERLOES A MUNNICH A MELKI J
Citation: L. Burglen et al., SURVIVAL MOTOR-NEURON GENE DELETION IN THE ARTHROGRYPOSIS MULTIPLEX CONGENITA-SPINAL MUSCULAR-ATROPHY ASSOCIATION, The Journal of clinical investigation, 98(5), 1996, pp. 1130-1132
A FRAME-SHIFT DELETION IN THE SURVIVAL MOTOR-NEURON GENE IN SPANISH SPINAL MUSCULAR-ATROPHY PATIENTS
Authors: BUSSAGLIA E CLERMONT O TIZZANO E LEFEBVRE S BURGLEN L CRUAUD C URTIZBEREA JA COLOMER J MUNNICH A BAIGET M MELKI J
Citation: E. Bussaglia et al., A FRAME-SHIFT DELETION IN THE SURVIVAL MOTOR-NEURON GENE IN SPANISH SPINAL MUSCULAR-ATROPHY PATIENTS, Nature genetics, 11(3), 1995, pp. 335-337
IDENTIFICATION OF A SPINAL MUSCULAR-ATROP HY DETERMINING GENE
Authors: BURGLEN L FREZAL J MUNNICH A MELKI J
Citation: L. Burglen et al., IDENTIFICATION OF A SPINAL MUSCULAR-ATROP HY DETERMINING GENE, Archives de pediatrie, 2(6), 1995, pp. 505-507
LATE NEWS - CLONING AND CHARACTERIZATION OF A GENE ESSENTIAL FOR SPINAL MUSCULAR ATROPHIES
Authors: BURGLEN L LEFEBRE S REBOULLET S CLERMONT O BURLET P VIOLLET L BENICHOU B CRUAUD C MILLASSEAU P ZEVIANI M LEPASLIER D FREZAL J COHEN D WEISSENBACH J MUNNICH A MELKI J
Citation: L. Burglen et al., LATE NEWS - CLONING AND CHARACTERIZATION OF A GENE ESSENTIAL FOR SPINAL MUSCULAR ATROPHIES, MS. Medecine sciences, 11(1), 1995, pp. 149-150
SMN GENE DELETIONS IN ADULT-ONSET SPINAL MUSCULAR-ATROPHY
Authors: CLERMONT O BURLET P LEFEBVRE S BURGLEN L MUNNICH A MELKI J
Citation: O. Clermont et al., SMN GENE DELETIONS IN ADULT-ONSET SPINAL MUSCULAR-ATROPHY, Lancet, 346(8991-2), 1995, pp. 1712-1713
SMN GENE DELETION IN VARIANT OF INFANTILE SPINAL MUSCULAR-ATROPHY
Authors: BURGLEN L SPIEGEL R IGNATIUS J COBBEN JM LANDRIEU P LEFEBVRE S MUNNICH A MELKI J
Citation: L. Burglen et al., SMN GENE DELETION IN VARIANT OF INFANTILE SPINAL MUSCULAR-ATROPHY, Lancet, 346(8970), 1995, pp. 316-317
IDENTIFICATION AND CHARACTERIZATION OF A SPINAL MUSCULAR ATROPHY-DETERMINING GENE
Authors: LEFEBVRE S BURGLEN L REBOULLET S CLERMONT O BURLET P VIOLLET L BENICHOU B CRUAUD C MILLASSEAU P ZEVIANI M LEPASLIER D FREZAL J COHEN D WEISSENBACH J MUNNICH A MELKI J
Citation: S. Lefebvre et al., IDENTIFICATION AND CHARACTERIZATION OF A SPINAL MUSCULAR ATROPHY-DETERMINING GENE, Cell, 80(1), 1995, pp. 155-165
LARGE DELETIONS INVOLVING SURVIVAL MOTOR-NEURON (SMN), NEURONAL APOPTOSIS INHIBITORY PROTEIN (NAIP) GENES AND MARKERS C212-C272 ARE SPECIFIC TO WERDNIG-HOFFMANN DISEASE
Authors: MELKI J BURLET P BURGLEN L CLERMONT O LEFEBVRE S VIOLLET L MUNNICH A
Citation: J. Melki et al., LARGE DELETIONS INVOLVING SURVIVAL MOTOR-NEURON (SMN), NEURONAL APOPTOSIS INHIBITORY PROTEIN (NAIP) GENES AND MARKERS C212-C272 ARE SPECIFIC TO WERDNIG-HOFFMANN DISEASE, American journal of human genetics, 57(4), 1995, pp. 142-142
GENOMIC ORGANIZATION OF THE HUMAN SURVIVAL MOTOR-NEURON GENE (SMN)
Authors: BURGLEN L LEFEBVRE S BURLET P CLERMONT O VIOLLET L MUNNICH A MELKI J
Citation: L. Burglen et al., GENOMIC ORGANIZATION OF THE HUMAN SURVIVAL MOTOR-NEURON GENE (SMN), American journal of human genetics, 57(4), 1995, pp. 799-799
IMMUNODETECTION OF THE SURVIVAL MOTOR-NEURON GENE-PRODUCTS (SMN) IN CONTROLS AND SMA PATIENTS
Authors: LEFEBVRE S BURGLEN L BURLET P CLERMONT O VIOLLET L MUNNICH A MELKI J
Citation: S. Lefebvre et al., IMMUNODETECTION OF THE SURVIVAL MOTOR-NEURON GENE-PRODUCTS (SMN) IN CONTROLS AND SMA PATIENTS, American journal of human genetics, 57(4), 1995, pp. 828-828
IDENTIFICATION, COMPARATIVE MAPPING AND DEVELOPMENTAL STUDIES OF THE MOUSE HOMOLOG OF THE SMN GENE
Authors: VIOLLET L BURGLEN L LEFEBVRE S BURLET P CLERMONT O MUNNICH A MELKI J
Citation: L. Viollet et al., IDENTIFICATION, COMPARATIVE MAPPING AND DEVELOPMENTAL STUDIES OF THE MOUSE HOMOLOG OF THE SMN GENE, American journal of human genetics, 57(4), 1995, pp. 864-864
A 4 BP DELETION IN EXON-3 OF THE SURVIVAL NEURON GENE RESULTING IN A PREMATURE STOP CODON IS A RECURRENT MUTATION IN SPANISH SPINAL MUSCULAR-ATROPHY FAMILIES
Authors: BUSSAGLIA E CLERMONT O TIZZANO EF LEFEBVRE S BURGLEN L CRUAUD C COLOMER J MUNNICH A BAIGET M MELKI J
Citation: E. Bussaglia et al., A 4 BP DELETION IN EXON-3 OF THE SURVIVAL NEURON GENE RESULTING IN A PREMATURE STOP CODON IS A RECURRENT MUTATION IN SPANISH SPINAL MUSCULAR-ATROPHY FAMILIES, American journal of human genetics, 57(4), 1995, pp. 1204-1204
GENETIC-ANALYSIS OF UNUSUAL SMA PEDIGREES USING SMN, NAIP GENES AND MARKERS C212-C272
Authors: CLERMONT O BURGLEN L BURLET P LEFEBVRE S VIOLLET L HAUSMANOWAPETRUSEWICZ I MUNNICH A MELKI J
Citation: O. Clermont et al., GENETIC-ANALYSIS OF UNUSUAL SMA PEDIGREES USING SMN, NAIP GENES AND MARKERS C212-C272, American journal of human genetics, 57(4), 1995, pp. 1370-1370
INHERITED AND DE-NOVO DELETION OF THE 5Q1 3 REGION IN SPINAL MUSCULARATROPHIES
Authors: MELKI J LEFEBVRE S BURGLEN L BURLET P CLERMONT O MILLASSEAU P REBOULLET S BENICHOU B ZEVIANI M LEPASLIER D COHEN D WEISSENBACH J MUNNICH A
Citation: J. Melki et al., INHERITED AND DE-NOVO DELETION OF THE 5Q1 3 REGION IN SPINAL MUSCULARATROPHIES, MS. Medecine sciences, 10(8-9), 1994, pp. 889-891
DE-NOVO AND INHERITED DELETIONS OF THE 5Q13 REGION IN SPINAL MUSCULARATROPHIES
Authors: MELKI J LEFEBVRE S BURGLEN L BURLET P CLERMONT O MILLASSEAU P REBOULLET S BENICHOU B ZEVIANI M LEPASLIER D COHEN D WEISSENBACH J MUNNICH A
Citation: J. Melki et al., DE-NOVO AND INHERITED DELETIONS OF THE 5Q13 REGION IN SPINAL MUSCULARATROPHIES, Science, 264(5164), 1994, pp. 1474-1477
USE OF GENETIC AND PHYSICAL MAPPING TO LOCATE THE SPINAL MUSCULAR-ATROPHY LOCUS BETWEEN 2 NEW HIGHLY POLYMORPHIC DNA MARKERS
Authors: CLERMONT O BURLET P BURGLEN L LEFEBVRE S PASCAL F MCPHERSON J WASMUTH JJ COHEN D LEPASLIER D WEISSENBACH J LATHROP M MUNNICH A MELKI J
Citation: O. Clermont et al., USE OF GENETIC AND PHYSICAL MAPPING TO LOCATE THE SPINAL MUSCULAR-ATROPHY LOCUS BETWEEN 2 NEW HIGHLY POLYMORPHIC DNA MARKERS, American journal of human genetics, 54(4), 1994, pp. 687-694
IDENTIFICATION OF NEW POLYMORPHIC DNA MARKERS CLOSELY FLANKING THE SMA LOCUS USING HOMOZYGOSITY MAPPING
Authors: CLERMONT O BURLET P BURGLEN L LEFEBVRE S PASCAL F LATHROP MG WEISSENBACH J MUNNICH A MELKI J
Citation: O. Clermont et al., IDENTIFICATION OF NEW POLYMORPHIC DNA MARKERS CLOSELY FLANKING THE SMA LOCUS USING HOMOZYGOSITY MAPPING, American journal of human genetics, 53(3), 1993, pp. 987-987
DUPLICATION AND AMPLIFICATION OF THE 5Q13 SPINAL MUSCULAR-ATROPHY REGION
Authors: MELKI J LEFEBVRE S BURGLEN L BURLET P CLERMONT O PASCAL F MILLASSAU P VIEGASPEGUIGNOT E CHUMAKOV I LATHROP MG LEPASLIER D COHEN D WEISSENBACH J MUNNICH A
Citation: J. Melki et al., DUPLICATION AND AMPLIFICATION OF THE 5Q13 SPINAL MUSCULAR-ATROPHY REGION, American journal of human genetics, 53(3), 1993, pp. 1329-1329
CLONING CANDIDATE GENES FROM THE SPINAL MUSCULAR-ATROPHY REGION OF CHROMOSOME 5Q13 BY EXON TRAPPING AMPLIFICATION
Authors: LEFEBVRE S BURGLEN L BURLET P CLERMONT O PASCAL F MUNNICH A MELKI J
Citation: S. Lefebvre et al., CLONING CANDIDATE GENES FROM THE SPINAL MUSCULAR-ATROPHY REGION OF CHROMOSOME 5Q13 BY EXON TRAPPING AMPLIFICATION, American journal of human genetics, 53(3), 1993, pp. 1787-1787
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