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Results: 1-25 | 26-45 |
Results: 26-45/45
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
ALLELIC ASSOCIATION AT THE D14S43 LOCUS IN EARLY-ONSET ALZHEIMERS-DISEASE
Authors: BRICE A TARDIEU S CAMPION D LEGUERN E MARTINEZ M CARPENTIER A PENET C DUBOIS B BELLIS M MALLET J HANNEQUIN D CLERGETDARPOUX F AGID Y MICHON A PILLON B BABRON MC CALANDA A PUEL M LEDOZE F PASQUIER F ZIMMERMANN MA DESI M VERCELETTO M THOMASANTERION C LEMAITRE MH JAILLARDSERRADT A TOUCHON J
Citation: A. Brice et al., ALLELIC ASSOCIATION AT THE D14S43 LOCUS IN EARLY-ONSET ALZHEIMERS-DISEASE, American journal of medical genetics, 60(2), 1995, pp. 91-93
CLINICAL ELECTROPHYSIOLOGIC, AND MOLECULAR CORRELATIONS IN 13 FAMILIES WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES AND A CHROMOSOME 17P11.2 DELETION
Authors: GOUIDER R LEGUERN E GUGENHEIM M TARDIEU S MAISONOBE T LEGER JM VALLAT JM AGID Y BOUCHE P BRICE A
Citation: R. Gouider et al., CLINICAL ELECTROPHYSIOLOGIC, AND MOLECULAR CORRELATIONS IN 13 FAMILIES WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES AND A CHROMOSOME 17P11.2 DELETION, Neurology, 45(11), 1995, pp. 2018-2023
NEW CONNEXIN32 MUTATIONS ASSOCIATED WITH X-LINKED CHARCOT-MARIE-TOOTHDISEASE
Authors: BONE LJ DAHL N LENSCH MW CHANCE PF KELLY T LEGUERN E MAGI S PARRY G SHAPIRO H WANG S FISCHBECK KH
Citation: Lj. Bone et al., NEW CONNEXIN32 MUTATIONS ASSOCIATED WITH X-LINKED CHARCOT-MARIE-TOOTHDISEASE, Neurology, 45(10), 1995, pp. 1863-1866
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
AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA WITH RETINAL DEGENERATION (ADCA TYPE-II) IS GENETICALLY DIFFERENT FROM ADCA TYPE-I
Authors: BENOMAR A LEGUERN E DURR A OUHABI H STEVANIN G YAHYAOUI M CHKILI T AGID Y BRICE A
Citation: A. Benomar et al., AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA WITH RETINAL DEGENERATION (ADCA TYPE-II) IS GENETICALLY DIFFERENT FROM ADCA TYPE-I, Annals of neurology, 35(4), 1994, pp. 439-444
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
PRENATAL-DIAGNOSIS OF X-LINKED RETINITIS-PIGMENTOSA (RP) IN 5 PREGNANCIES AT RISK
Authors: IAMPIERI MP MINGARELLI R LEGUERN E NOVELLI G DALLAPICCOLA B
Citation: Mp. Iampieri et al., PRENATAL-DIAGNOSIS OF X-LINKED RETINITIS-PIGMENTOSA (RP) IN 5 PREGNANCIES AT RISK, Prenatal diagnosis, 14(4), 1994, pp. 285-289
CLINICAL, ELECTROPHYSIOLOGICAL AND GENETIC-STUDY IN 12 FAMILIES WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES
Authors: GOUIDER R GUGENHEIM M LEGUERN E TARDIEU S LEGER JM AGID Y BRICE A BOUCHE P
Citation: R. Gouider et al., CLINICAL, ELECTROPHYSIOLOGICAL AND GENETIC-STUDY IN 12 FAMILIES WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES, Neurology, 44(4), 1994, pp. 10000306-10000306
HEREDITARY NEURALGIC AMYOTROPHY AND HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES - 2 DISTINCT CLINICAL, ELECTROPHYSIOLOGIC, ANDGENETIC ENTITIES
Authors: GOUIDER R LEGUERN E EMILE J TARDIEU S CABON F SAMID M WEISSENBACH J AGID Y BOUCHE P BRICE A
Citation: R. Gouider et al., HEREDITARY NEURALGIC AMYOTROPHY AND HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES - 2 DISTINCT CLINICAL, ELECTROPHYSIOLOGIC, ANDGENETIC ENTITIES, Neurology, 44(12), 1994, pp. 2250-2252
FAMILIAL PARKINSONS-DISEASE AND POLYMORPHISM AT THE CYP2D6 LOCUS
Authors: MAZZETTI P LEGUERN E BONNET AM VIDAILHET M BRICE A AGID Y
Citation: P. Mazzetti et al., FAMILIAL PARKINSONS-DISEASE AND POLYMORPHISM AT THE CYP2D6 LOCUS, Journal of Neurology, Neurosurgery and Psychiatry, 57(7), 1994, pp. 871-872
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
MOLECULAR ANALYSIS OF A RING CHROMOSOME-X IN A FAMILY WITH FRAGILE-X SYNDROME
Authors: MORNET E BOGYO A DELUCHAT C SIMONBOUY B MATHIEU M THEPOT F GRISARD MC LEGUERN E BOUE J BOUE A
Citation: E. Mornet et al., MOLECULAR ANALYSIS OF A RING CHROMOSOME-X IN A FAMILY WITH FRAGILE-X SYNDROME, Human genetics, 92(4), 1993, pp. 373-378
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH (CMT) DISEASE TYPE-I AND TYPE-II - A CLINICAL, ELECTROPHYSIOLOGICAL, AND GENETIC-STUDY
Authors: BOUCHE P GUGENHEIM M LEGUERN E DELIMA JMB STEVANIN G BRICE A AGID Y
Citation: P. Bouche et al., AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH (CMT) DISEASE TYPE-I AND TYPE-II - A CLINICAL, ELECTROPHYSIOLOGICAL, AND GENETIC-STUDY, Neurology, 43(4), 1993, pp. 215-215
LINKAGE ANALYSIS WITH MICROSATELLITE MARKERS CLOSE TO SCA2 LOCUS IN 6FRENCH FAMILIES - EVIDENCE FOR A 3RD LOCUS ADCA TYPE-I
Authors: CANCEL G STEVANIN G DURR A CHNEIWEISS H LEGUERN E AGID Y BRICE A
Citation: G. Cancel et al., LINKAGE ANALYSIS WITH MICROSATELLITE MARKERS CLOSE TO SCA2 LOCUS IN 6FRENCH FAMILIES - EVIDENCE FOR A 3RD LOCUS ADCA TYPE-I, American journal of human genetics, 53(3), 1993, pp. 983-983
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: 1-25 | 26-45 |