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Results:
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Results: 19
Authors:
LOPES J
RAVISE N
VANDENEBRGHE A
PALAU F
IONASESCU V
MAYER M
LEVY N
WOOD N
TACHI N
BOUCHE P
LATOUR P
RUBERG M
BRICE A
LEGUERN E
Citation: J. Lopes et al., SEX-DEPENDENT REARRANGEMENTS RESULTING IN CMT1A AND HNPP, European journal of human genetics, 6, 1998, pp. 4267-4267
Authors:
LOPES J
RAVISE N
VANDENBERGHE A
PALAU F
IONASESCU V
MAYER M
LEVY N
WOOD N
TACHI N
BOUCHE P
LATOUR P
RUBERG M
BRICE A
LEGUERN E
Citation: J. Lopes et al., FINE MAPPING OF DE-NOVO CMT1A AND HNPP REARRANGEMENTS WITHIN CMT1A-REPS EVIDENCES 2 DISTINCT SEX-DEPENDENT MECHANISMS AND CANDIDATE SEQUENCES INVOLVED IN RECOMBINATION, Human molecular genetics, 7(1), 1998, pp. 141-148
Authors:
LOPES J
VANDENBERGHE A
TARDIEU S
IONASESCU V
LEVY N
WOOD N
TACHI N
BOUCHE P
LATOUR P
BRICE A
LEGUERN E
Citation: J. Lopes et al., SEX-DEPENDENT REARRANGEMENTS RESULTING IN CMT1A AND HNPP, Nature genetics, 17(2), 1997, pp. 136-137
Authors:
LEGUERN E
LOPES J
RAVISE N
VANDENBERGHE A
TARDIEU S
IONASESCU V
LEVY N
WOOD N
TACHI N
LATOUR P
BRICE A
Citation: E. Leguern et al., ANALYSIS OF THE CROSSOVER BREAKPOINTS IN 29 CMT1A AND 4 HNPP DE-NOVO PATIENTS, American journal of human genetics, 61(4), 1997, pp. 1384-1384
THE CMT2D LOCUS ON CHROMOSOME 7P - REFINED GENETIC LOCALIZATION AND HIGH-RESOLUTION PHYSICAL MAPPING
Authors:
MCGUIRE RE
SEARBY C
BRADEN VV
JEGATHESAN A
MARRA M
MCPHERSON JD
IONASESCU V
GREEN ED
Citation: Re. Mcguire et al., THE CMT2D LOCUS ON CHROMOSOME 7P - REFINED GENETIC LOCALIZATION AND HIGH-RESOLUTION PHYSICAL MAPPING, American journal of human genetics, 61(4), 1997, pp. 1389-1389
Authors:
IONASESCU V
SEARBY C
SHEFFIELD VC
ROKLINA T
NISHIMURA D
IONASESCU R
Citation: V. Ionasescu et al., AUTOSOMAL-DOMINANT CHARCOT-MARIE-TOOTH AXONAL NEUROPATHY MAPPED ON CHROMOSOME 7P (CMT2D), Human molecular genetics, 5(9), 1996, pp. 1373-1375
Authors:
TAN CC
AINSWORTH PJ
IONASESCU V
BOLTON CF
HAHN AF
Citation: Cc. Tan et al., X-LINKED DOMINANT CHARCOT-MARIE-TOOTH DISEASE - NOVEL CONNEXIN-32 MUTATIONS AND THEIR RELATIONSHIP TO CLINICAL AND PATHOLOGICAL DISEASE, Annals of neurology, 40(3), 1996, pp. 215-215
Authors:
IONASESCU V
IONASESCU R
SEARBY C
Citation: V. Ionasescu et al., CORRELATION BETWEEN CONNEXIN-32 GENE-MUTATIONS AND CLINICAL PHENOTYPEIN X-LINKED DOMINANT CHARCOT-MARIE-TOOTH NEUROPATHY, American journal of medical genetics, 63(3), 1996, pp. 486-491
Authors:
NEUHAUS IM
BONE L
WANG SP
IONASESCU V
WERNER R
Citation: Im. Neuhaus et al., THE HUMAN CONNEXIN-32 GENE IS TRANSCRIBED FROM 2 TISSUE-SPECIFIC PROMOTERS, Bioscience reports, 16(3), 1996, pp. 239-248
Authors:
IONASESCU V
SEARBY C
IONASESCU R
MESCHINO W
Citation: V. Ionasescu et al., NEW POINT MUTATIONS AND DELETIONS OF THE CONNEXIN-32 GENE IN X-LINKEDCHARCOT-MARIE-TOOTH NEUROPATHY, Neuromuscular disorders, 5(4), 1995, pp. 297-299
Authors:
IONASESCU V
Citation: V. Ionasescu, PHRENIC-NERVE INVOLVEMENT IN CHARCOT-MARIE-TOOTH - REPLY, Muscle & nerve, 18(10), 1995, pp. 1215-1216
Authors:
IONASESCU R
SEARBY C
IONASESCU V
Citation: R. Ionasescu et al., CORRELATIONS BETWEEN CONNEXIN 32 POINT MUTATIONS AND CLINICAL FINDINGS IN X-LINKED DOMINANT CHARCOT-MARIE-TOOTH NEUROPATHY, Neurology, 45(4), 1995, pp. 423-423
Authors:
JOUET M
ROSENTHAL A
ARMSTRONG G
MACFARLANE J
STEVENSON R
PATERSON J
METZENBERG A
IONASESCU V
TEMPLE K
KENWRICK S
Citation: M. Jouet et al., X-LINKED SPASTIC PARAPLEGIA (SPG1), MASA SYNDROME AND X-LINKED HYDROCEPHALUS RESULT FROM MUTATIONS IN THE L1 GENE, Nature genetics, 7(3), 1994, pp. 402-407
Authors:
IONASESCU V
SEARBY C
IONASESCU R
Citation: V. Ionasescu et al., POINT MUTATIONS OF THE CONNEXIN32 (GJB1) GENE IN X-LINKED DOMINANT CHARCOT-MARIE-TOOTH NEUROPATHY, Human molecular genetics, 3(2), 1994, pp. 355-358
Authors:
IONASESCU V
CHRISTENSEN J
HART M
Citation: V. Ionasescu et al., INTESTINAL PSEUDOOBSTRUCTION IN ADULT SPINAL MUSCULAR-ATROPHY, Muscle & nerve, 17(8), 1994, pp. 946-948
Authors:
MORAES CT
CIACCI F
BONILLA E
IONASESCU V
SCHON EA
DIMAURO S
Citation: Ct. Moraes et al., A MITOCHONDRIAL TRANSFER-RNA ANTICODON SWAP ASSOCIATED WITH A MUSCLE DISEASE, Nature genetics, 4(3), 1993, pp. 284-288
Authors:
RUMMELT V
FOLBERG R
IONASESCU V
YI H
MOORE KC
Citation: V. Rummelt et al., OCULAR PATHOLOGY OF MELAS SYNDROME WITH MITOCHONDRIAL-DNA NUCLEOTIDE-3243 POINT MUTATION, Ophthalmology, 100(12), 1993, pp. 1757-1766
Authors:
IONASESCU V
IONASESCU R
SEARBY C
BARKER D
Citation: V. Ionasescu et al., DUPLICATION AND NON-DUPLICATION IN THE SAME FAMILY WITH CHARCOT-MARIE-TOOTH NEUROPATHY-1A, Neurology, 43(4), 1993, pp. 210-210
Authors:
MATSUMURA K
TOME FMS
IONASESCU V
ERVASTI JM
ANDERSON RD
ROMERO NB
SIMON D
RECAN D
KAPLAN JC
FARDEAU M
CAMPBELL KP
Citation: K. Matsumura et al., DEFICIENCY OF DYSTROPHIN-ASSOCIATED PROTEINS IN DUCHENNE MUSCULAR-DYSTROPHY PATIENTS LACKING COOH-TERMINAL DOMAINS OF DYSTROPHIN, The Journal of clinical investigation, 92(2), 1993, pp. 866-871
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