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Results: 1-17 |
Results: 17
DIRECT MOLECULAR-GENETIC DIAGNOSIS AND CARRIER IDENTIFICATION IN ONE EMERY-DREIFUSS MUSCULAR-DYSTROPHY FAMILY
Authors: CANKIKLAIN N RECAN D LLENSE S BARBOT JC LETURCQ F DEBURGRAVE N KAPLAN JC DEBEVEC M ZURAK N
Citation: N. Cankiklain et al., DIRECT MOLECULAR-GENETIC DIAGNOSIS AND CARRIER IDENTIFICATION IN ONE EMERY-DREIFUSS MUSCULAR-DYSTROPHY FAMILY, European journal of human genetics, 6, 1998, pp. 1033-1033
CYTOGENETIC AND MOLECULAR STUDIES IN 32 SILVER-RUSSELL-SYNDROME PATIENTS (SRS)
Authors: DUPONT JM CUISSET L LETESSIER D VASSEUR C RECAN D CARTIGNY M DESPERT F BOUGNERE P JEANPIERRE M RABINEAU D
Citation: Jm. Dupont et al., CYTOGENETIC AND MOLECULAR STUDIES IN 32 SILVER-RUSSELL-SYNDROME PATIENTS (SRS), European journal of human genetics, 6, 1998, pp. 2113-2113
MUTATIONS IN EMERY-DREIFUSS MUSCULAR-DYSTROPHY AND THEIR EFFECTS ON EMERIN PROTEIN EXPRESSION
Authors: MANILAL S RECAN D SEWRY CA HOELTZENBEIN M LLENSE S LETURCQ F DEBURGRAVE N BARBOT JC MAN NT MUNTONI F WEHNERT M KAPLAN JC MORRIS GE
Citation: S. Manilal et al., MUTATIONS IN EMERY-DREIFUSS MUSCULAR-DYSTROPHY AND THEIR EFFECTS ON EMERIN PROTEIN EXPRESSION, Human molecular genetics, 7(5), 1998, pp. 855-864
EARLY PRESENTATION OF X-LINKED EMERY-DREIFUSS MUSCULAR-DYSTROPHY RESEMBLING LIMB-GIRDLE MUSCULAR-DYSTROPHY
Authors: MUNTONI F LICHTAROWICZKRYNSKA EJ SEWRY CA MANILAL S RECAN D LLENSE S TAYLOR J MORRIS GE DUBOWITZ V
Citation: F. Muntoni et al., EARLY PRESENTATION OF X-LINKED EMERY-DREIFUSS MUSCULAR-DYSTROPHY RESEMBLING LIMB-GIRDLE MUSCULAR-DYSTROPHY, Neuromuscular disorders, 8(2), 1998, pp. 72-76
NOVEL RECURRENT NONSENSE MUTATION CAUSING NEUROFIBROMATOSIS TYPE-1 (NF1) IN A FAMILY SEGREGATING BOTH NF1 AND NOONAN-SYNDROME
Authors: BAHUAU M HOUDAYER C ASSOULINE B BLANCHETBARDON C LEMERRER M LYONNET S GIRAUD S RECAN D LAKHDAR H VIDAUD M VIDAUD D
Citation: M. Bahuau et al., NOVEL RECURRENT NONSENSE MUTATION CAUSING NEUROFIBROMATOSIS TYPE-1 (NF1) IN A FAMILY SEGREGATING BOTH NF1 AND NOONAN-SYNDROME, American journal of medical genetics, 75(3), 1998, pp. 265-272
A POINT MUTATION IN THE GLYCEROL KINASE GENE ASSOCIATED WITH A DELETION IN THE DYSTROPHIN GENE IN A FAMILIAL X-LINKED MUSCULAR-DYSTROPHY - NONCONTIGUOUS GENE SYNDROME INVOLVING BECKER MUSCULAR-DYSTROPHY AND GLYCEROL KINASE LOCI
Authors: ROMERO NB RECAN D RIGAL O LETURCQ F LLENSE S BARBOT JC DEBURGRAVE N CHEVAL MA DENIAU F KAPLAN JC
Citation: Nb. Romero et al., A POINT MUTATION IN THE GLYCEROL KINASE GENE ASSOCIATED WITH A DELETION IN THE DYSTROPHIN GENE IN A FAMILIAL X-LINKED MUSCULAR-DYSTROPHY - NONCONTIGUOUS GENE SYNDROME INVOLVING BECKER MUSCULAR-DYSTROPHY AND GLYCEROL KINASE LOCI, Neuromuscular disorders, 7(8), 1997, pp. 499-504
IDENTIFICATION BY STS PCR SCREENING OF A MICRODELETION IN XP21.3-22.1ASSOCIATED WITH NONSPECIFIC MENTAL-RETARDATION
Authors: BILLUART P VINET MC PORTES VD LLENSE S RICHARD L MOUTARD ML RECAN D BRULS T BIENVENU T KAHN A BELDJORD C CHELLY J
Citation: P. Billuart et al., IDENTIFICATION BY STS PCR SCREENING OF A MICRODELETION IN XP21.3-22.1ASSOCIATED WITH NONSPECIFIC MENTAL-RETARDATION, Human molecular genetics, 5(7), 1996, pp. 977-979
PRIMARY ADHALINOPATHY - A COMMON-CAUSE OF AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY OF VARIABLE SEVERITY
Authors: PICCOLO F ROBERDS SL JEANPIERRE M LETURCQ F AZIBI K BELDJORD C CARRIE A RECAN D CHAOUCH M REGHIS A ELKERCH F SEFIANI A VOIT T MERLINI L COLLIN H EYMARD B BECKMANN JS ROMERO NB TOME FMS FARDEAU M CAMPBELL KP KAPLAN JC
Citation: F. Piccolo et al., PRIMARY ADHALINOPATHY - A COMMON-CAUSE OF AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY OF VARIABLE SEVERITY, Nature genetics, 10(2), 1995, pp. 243-245
SPORADIC LOWER-LIMB HYPERTROPHY AND EXERCISE-INDUCED MYALGIA IN A WOMAN WITH DYSTROPHIN GENE DELETION
Authors: MALAPERT D RECAN D LETURCQ F DEGOS JD GHERARDI RK
Citation: D. Malapert et al., SPORADIC LOWER-LIMB HYPERTROPHY AND EXERCISE-INDUCED MYALGIA IN A WOMAN WITH DYSTROPHIN GENE DELETION, Journal of Neurology, Neurosurgery and Psychiatry, 59(5), 1995, pp. 552-554
REFINED MAPPING OF THE LGMD2C LOCUS TO A 1-CENTIMORGAN INTERVAL
Authors: JEANPIERRE M BECKMANN JS AZIBI K ELKERCH F LETURCQ F RECAN D MERLINI L TOUTAIN A BONNEAU D TOME FMS FARDEAU M KAPLAN JC DODE C
Citation: M. Jeanpierre et al., REFINED MAPPING OF THE LGMD2C LOCUS TO A 1-CENTIMORGAN INTERVAL, American journal of human genetics, 57(4), 1995, pp. 1114-1114
SKEWED INACTIVATION OF AN X-CHROMOSOME DELETED AT THE DYSTROPHIN GENEIN AN ASYMPTOMATIC MOTHER AND HER AFFECTED DAUGHTER
Authors: TIHY F VOGT N RECAN D MALFOY B LETURCQ F COQUET M SERVILLE F FONTAN D GUILLARD JM KAPLAN JC DUTRILLAUX B LEMIEUX N
Citation: F. Tihy et al., SKEWED INACTIVATION OF AN X-CHROMOSOME DELETED AT THE DYSTROPHIN GENEIN AN ASYMPTOMATIC MOTHER AND HER AFFECTED DAUGHTER, Human genetics, 93(5), 1994, pp. 563-567
ADDITIONAL CASE OF FEMALE MONOZYGOTIC TWINS DISCORDANT FOR THE CLINICAL MANIFESTATIONS OF DUCHENNE MUSCULAR-DYSTROPHY DUE TO OPPOSITE X-CHROMOSOME INACTIVATION
Authors: ABBADI N PHILIPPE C CHERY M GILGENKRANTZ H TOME F COLLIN H THEAU D RECAN D BROUX O FARDEAU M KAPLAN JC GILGENKRANTZ S
Citation: N. Abbadi et al., ADDITIONAL CASE OF FEMALE MONOZYGOTIC TWINS DISCORDANT FOR THE CLINICAL MANIFESTATIONS OF DUCHENNE MUSCULAR-DYSTROPHY DUE TO OPPOSITE X-CHROMOSOME INACTIVATION, American journal of medical genetics, 52(2), 1994, pp. 198-206
MUTATIONS IN THE DAX-1 GENE GIVE RISE TO BOTH X-LINKED ADRENAL HYPOPLASIA CONGENITA AND HYPOGONADOTROPIC HYPOGONADISM
Authors: MUSCATELLI F STROM TM WALKER AP ZANARIA E RECAN D MEINDL A BARDONI B GUIOLI S ZEHETNER G RABL W SCHWARZ HP KAPLAN JC CAMERINO G MEITINGER T MONACO AP
Citation: F. Muscatelli et al., MUTATIONS IN THE DAX-1 GENE GIVE RISE TO BOTH X-LINKED ADRENAL HYPOPLASIA CONGENITA AND HYPOGONADOTROPIC HYPOGONADISM, Nature, 372(6507), 1994, pp. 672-676
DEFICIENCY OF DYSTROPHIN-ASSOCIATED PROTEINS IN DUCHENNE MUSCULAR-DYSTROPHY PATIENTS LACKING COOH-TERMINAL DOMAINS OF DYSTROPHIN
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
MOLECULAR PATHOLOGY OF THE DYSTROPHIN GENE - DIAGNOSTIC APPLICATIONS AND PROBLEMS
Authors: KAPLAN JC LETURCQ F JEANPIERRE M RECAN D
Citation: Jc. Kaplan et al., MOLECULAR PATHOLOGY OF THE DYSTROPHIN GENE - DIAGNOSTIC APPLICATIONS AND PROBLEMS, Annales de biologie clinique, 51(3-5), 1993, pp. 255-255
PHENOTYPE DISCORDANCE BETWEEN A HEALTHY MOTHER AND HER DMD-AFFECTED DAUGHTER SHARING THE SAME MOLECULAR DELETION WITHIN THE DYSTROPHIN GENE- EVIDENCE SUPPORTING THE NONRANDOM X INACTIVATION
Authors: TIHY F VOGT N MALFOY B RECAN D LETURCQ F KAPLAN JC COQUET M SERVILLE F GUILLARD JM DUTRILLAUX B RICHER CL LEMIEUX N
Citation: F. Tihy et al., PHENOTYPE DISCORDANCE BETWEEN A HEALTHY MOTHER AND HER DMD-AFFECTED DAUGHTER SHARING THE SAME MOLECULAR DELETION WITHIN THE DYSTROPHIN GENE- EVIDENCE SUPPORTING THE NONRANDOM X INACTIVATION, American journal of human genetics, 53(3), 1993, pp. 1762-1762
MILD DEFICIENCY OF DYSTROPHIN-ASSOCIATED PROTEINS IN BECKER MUSCULAR-DYSTROPHY PATIENTS HAVING IN-FRAME DELETIONS IN THE ROD DOMAIN OF DYSTROPHIN
Authors: MATSUMURA K NONAKA I TOME FMS ARAHATA K COLLIN H LETURCQ F RECAN D KAPLAN JC FARDEAU M CAMPBELL KP
Citation: K. Matsumura et al., MILD DEFICIENCY OF DYSTROPHIN-ASSOCIATED PROTEINS IN BECKER MUSCULAR-DYSTROPHY PATIENTS HAVING IN-FRAME DELETIONS IN THE ROD DOMAIN OF DYSTROPHIN, American journal of human genetics, 53(2), 1993, pp. 409-416
Risultati: 1-17 |