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Results: 1-17 |
Results: 17
SEX-DEPENDENT REARRANGEMENTS RESULTING IN CMT1A AND HNPP
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
FINE MAPPING OF DE-NOVO CMT1A AND HNPP REARRANGEMENTS WITHIN CMT1A-REPS EVIDENCES 2 DISTINCT SEX-DEPENDENT MECHANISMS AND CANDIDATE SEQUENCES INVOLVED IN RECOMBINATION
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
ANALYSIS OF THE CROSSOVER BREAKPOINTS IN 29 CMT1A AND 4 HNPP DE-NOVO PATIENTS
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
HOMOZYGOSITY MAPPING OF AN AUTOSOMAL RECESSIVE FORM OF DEMYELINATING CHARCOT-MARIE-TOOTH DISEASE TO CHROMOSOME 5Q23-Q33
Authors: LEGUERN E GUILBOT A KESSALI M RAVISE N TASSIN J MAISONOBE T GRID D BRICE A
Citation: E. Leguern et al., HOMOZYGOSITY MAPPING OF AN AUTOSOMAL RECESSIVE FORM OF DEMYELINATING CHARCOT-MARIE-TOOTH DISEASE TO CHROMOSOME 5Q23-Q33, Human molecular genetics, 5(10), 1996, pp. 1685-1688
A DE-NOVO CASE OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP) OF MATERNAL ORIGIN - A NEW MECHANISM FOR DELETION IN 17P11.2
Authors: LEGUERN E GOUIDER R RAVISE N LOPES J TARDIEU S GUGENHEIM M ABBAS N BOUCHE P AGID Y BRICE A
Citation: E. Leguern et al., A DE-NOVO CASE OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP) OF MATERNAL ORIGIN - A NEW MECHANISM FOR DELETION IN 17P11.2, Human molecular genetics, 5(1), 1996, pp. 103-106
MICROSATELLITE MAPPING OF THE DELETION IN PATIENTS WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP) - NEW MOLECULAR TOOLS FOR THE STUDY OF THE REGION 17P12-]P11 AND FOR DIAGNOSIS
Authors: LEGUERN E RAVISE N GOUIDER R GUGENHEIM M LOPES J BOUCHE P AGID Y BRICE A
Citation: E. Leguern et al., MICROSATELLITE MAPPING OF THE DELETION IN PATIENTS WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP) - NEW MOLECULAR TOOLS FOR THE STUDY OF THE REGION 17P12-]P11 AND FOR DIAGNOSIS, Cytogenetics and cell genetics, 72(1), 1996, pp. 20-25
CONSTANT REARRANGEMENT OF THE CMT1A-REP SEQUENCES IN HNPP PATIENTS WITH A DELETION IN CHROMOSOME 17P11.2 - A STUDY OF 34 UNRELATED CASES INCLUDING A DE-NOVO CASE OF MATERNAL ORIGIN
Authors: LEGUERN E GOUIDER R BIROUK N LOPES J ABBAS N GUGENHEIM M TARDIEU S RAVISE N LEGER JM VALLANT JM BOUCHE P AGID Y BRICE A
Citation: E. Leguern et al., CONSTANT REARRANGEMENT OF THE CMT1A-REP SEQUENCES IN HNPP PATIENTS WITH A DELETION IN CHROMOSOME 17P11.2 - A STUDY OF 34 UNRELATED CASES INCLUDING A DE-NOVO CASE OF MATERNAL ORIGIN, Neurology, 46(2), 1996, pp. 21003-21003
THE GENE FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA WITH PIGMENTARY MACULAR DYSTROPHY MAPS TO CHROMOSOME 3P12-P21.1
Authors: BENOMAR A KROLS L STEVANIN G CANCEL G LEGUERN E DAVID G OUHABI H MARTIN JJ DURR A ZAIM A RAVISE N BUSQUE C PENET C VANREGEMORTER N WEISSENBACH J YAHYAOUI M CHKILI T AGID Y VANBROECKHOVEN C BRICE A
Citation: A. Benomar et al., THE GENE FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA WITH PIGMENTARY MACULAR DYSTROPHY MAPS TO CHROMOSOME 3P12-P21.1, Nature genetics, 10(1), 1995, pp. 84-88
CONSTANT REARRANGEMENT OF THE CMT1A-REP SEQUENCES IN HNPP PATIENTS WITH A DELETION IN CHROMOSOME 17P11.2 - A STUDY OF 30 UNRELATED CASES
Authors: LEGUERN E GOUIDER R LOPES J ABBAS N GUGENHEIM M TARDIEU S RAVISE N LEGER JM VALLAT JM BOUCHE P AGID Y BRICE A ARNEBES MC BRICHET B BIROUK N CHAPON F CHAZOT G CLAVELOU P DESNUELLE C DIRAISON P DUBAS F GONNAUD PM HURTEVENT JF KUNTZER T LAGUENY A MABIN D OSHSNER F OLLAGNONROMAN E POUGET J TABERAUD F VANDENBERGHE A
Citation: E. Leguern et al., CONSTANT REARRANGEMENT OF THE CMT1A-REP SEQUENCES IN HNPP PATIENTS WITH A DELETION IN CHROMOSOME 17P11.2 - A STUDY OF 30 UNRELATED CASES, Human molecular genetics, 4(9), 1995, pp. 1673-1674
CONSTANT REARRANGEMENT OF THE CMT1A-REP SEQUENCES IN HNPP PATIENTS WITH A DELETION IN CHROMOSOME 17P11.2 - A STUDY OF 30 UNRELATED CASES
Authors: LEGUERN E GOUIDER R LOPES J ABBAS N GUGENHEIM M TARDIEU S RAVISE N LEGER JM VALLAT JM BOUCHE P AGID Y BRICE A
Citation: E. Leguern et al., CONSTANT REARRANGEMENT OF THE CMT1A-REP SEQUENCES IN HNPP PATIENTS WITH A DELETION IN CHROMOSOME 17P11.2 - A STUDY OF 30 UNRELATED CASES, American journal of human genetics, 57(4), 1995, pp. 1254-1254
LINKAGE ANALYSES BETWEEN DOMINANT X-LINKED CHARCOT-MARIE-TOOTH-DISEASE, AND 15 XQ11-XQ21 MICROSATELLITES IN A NEW LARGE FAMILY - 3 NEW MARKERS ARE CLOSELY LINKED TO THE GENE
Authors: LEGUERN E RAVISE N GUGENHEIM M VIGNAL A PENET C BOUCHE P WEISSENBACH J AGID Y BRICE A
Citation: E. Leguern et al., LINKAGE ANALYSES BETWEEN DOMINANT X-LINKED CHARCOT-MARIE-TOOTH-DISEASE, AND 15 XQ11-XQ21 MICROSATELLITES IN A NEW LARGE FAMILY - 3 NEW MARKERS ARE CLOSELY LINKED TO THE GENE, Neuromuscular disorders, 4(5-6), 1994, pp. 463-469
ASSIGNMENT OF 112 MICROSATELLITE MARKERS TO 23 CHROMOSOME-11 SUBREGIONS DELINEATED BY SOMATIC HYBRIDS - COMPARISON WITH THE GENETIC-MAP
Authors: COUILLIN P LEGUERN E VIGNAL A FIZAMES C RAVISE N DELPORTES D REGUIGNE I ROSIER MF JUNIEN C VANHEYNINGEN V WEISSENBACH J
Citation: P. Couillin et al., ASSIGNMENT OF 112 MICROSATELLITE MARKERS TO 23 CHROMOSOME-11 SUBREGIONS DELINEATED BY SOMATIC HYBRIDS - COMPARISON WITH THE GENETIC-MAP, Genomics, 21(2), 1994, pp. 379-387
DETECTION OF DELETION WITHIN 17P11.2 IN 7 FRENCH FAMILIES WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP)
Authors: LEGUERN E STURTZ F GUGENHEIM M GOUIDER R BONNEBOUCHE C RAVISE N GONNAUD PM TARDIEU S BOUCHE P CHAZOT G AGID Y VANDENBERGHE A BRICE A
Citation: E. Leguern et al., DETECTION OF DELETION WITHIN 17P11.2 IN 7 FRENCH FAMILIES WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP), Cytogenetics and cell genetics, 65(4), 1994, pp. 261-264
A 3RD LOCUS FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA TYPE-I MAPS TO CHROMOSOME 14Q24.3-QTER - EVIDENCE FOR THE EXISTENCE OF A 4TH LOCUS
Authors: STEVANIN G LEGUERN E RAVISE N CHNEIWEISS H DURR A CANCEL G VIGNAL A BOCH AL RUBERG M PENET C POTHIN Y LAGROUA I HAGUENAU M RANCUREL G WEISSENBACH J AGID Y BRICE A
Citation: G. Stevanin et al., A 3RD LOCUS FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA TYPE-I MAPS TO CHROMOSOME 14Q24.3-QTER - EVIDENCE FOR THE EXISTENCE OF A 4TH LOCUS, American journal of human genetics, 54(1), 1994, pp. 11-20
GENETIC-HETEROGENEITY OF AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA TYPE-I - EVIDENCE FOR THE EXISTENCE OF A 3RD LOCUS
Authors: STEVANIN G CHNEIWEISS H LEGUERN E RAVISE N DURR A PENET C AGID Y BRICE A
Citation: G. Stevanin et al., GENETIC-HETEROGENEITY OF AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA TYPE-I - EVIDENCE FOR THE EXISTENCE OF A 3RD LOCUS, Human molecular genetics, 2(9), 1993, pp. 1483-1485
DETECTION OF DELETION WITHIN 17P11.2 REGION IN 13 FRENCH FAMILIES AFFECTED BY HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PAISIES (HNPP)
Authors: LEGUERN E STURTZ F GUGENHEIM M GOUIDER R BONNEBOUCHE C RAVISE N GONNAUD PM TARDIEU S BOUCHE P CHAZOT G AGID Y VANDENBERGHE A BRICE A
Citation: E. Leguern et al., DETECTION OF DELETION WITHIN 17P11.2 REGION IN 13 FRENCH FAMILIES AFFECTED BY HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PAISIES (HNPP), American journal of human genetics, 53(3), 1993, pp. 1193-1193
LINKAGE STUDY WITH 16 XQ13-XQ21 MICROSATELLITES IN A LARGE NEW FAMILYWITH A DOMINANT X-LINKED CHARCOT-MARIE-TOOTH DISEASE
Authors: BRICE A LEGUERN E RAVISE N GUGENHEIM M VIGNAL A BOUCHE P PENET C WEISSENBACH J AGID Y
Citation: A. Brice et al., LINKAGE STUDY WITH 16 XQ13-XQ21 MICROSATELLITES IN A LARGE NEW FAMILYWITH A DOMINANT X-LINKED CHARCOT-MARIE-TOOTH DISEASE, American journal of human genetics, 53(3), 1993, pp. 1688-1688
Risultati: 1-17 |