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Results: 1-25 | 26-50 | 51-61
Results: 1-25/61
A MISSENSE MUTATION IN THE ALPHA-B-CRYSTALLIN CHAPERONE GENE CAUSES ADESMIN-RELATED MYOPATHY
Authors: VICART P CARON A GUICHENEY P LI ZL PREVOST MC FAURE A CHATEAU D CHAPON F TOME F DUPRET JM PAULIN D FARDEAU M
Citation: P. Vicart et al., A MISSENSE MUTATION IN THE ALPHA-B-CRYSTALLIN CHAPERONE GENE CAUSES ADESMIN-RELATED MYOPATHY, Nature genetics, 20(1), 1998, pp. 92-95
GENOTYPE-PHENOTYPE ANALYSIS IN 4 FAMILIES WITH MUTATIONS IN BETA-MYOSIN HEAVY-CHAIN GENE RESPONSIBLE FOR FAMILIAL HYPERTROPHIC CARDIOMYOPATHY
Authors: TESSON F RICHARD P CHARRON P MATHIEU B CRUAUD C CARRIER L DUBOURG O LAUTIE N DESNOS M MILLAIRE A ISNARD R HAGEGE AA BOUHOUR JB BENNACEUR M HAINQUE B GUICHENEY P SCHWARTZ K KOMAJDA M
Citation: F. Tesson et al., GENOTYPE-PHENOTYPE ANALYSIS IN 4 FAMILIES WITH MUTATIONS IN BETA-MYOSIN HEAVY-CHAIN GENE RESPONSIBLE FOR FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, Human mutation, 12(6), 1998, pp. 385-392
HETEROZYGOUS MUTATION IN THE PORE OF POTASSIUM CHANNEL GENE KVLQT1 CAUSES AN APPARENTLY NORMAL PHENOTYPE IN LONG QT SYNDROME
Authors: NEYROUD N DENJOY I DONGER C GARY F VILLAIN E LEENHARDT A BENALI K SCHWARTZ K COUMEL P GUICHENEY P
Citation: N. Neyroud et al., HETEROZYGOUS MUTATION IN THE PORE OF POTASSIUM CHANNEL GENE KVLQT1 CAUSES AN APPARENTLY NORMAL PHENOTYPE IN LONG QT SYNDROME, European journal of human genetics, 6(2), 1998, pp. 129-133
INHERITED ARRHYTHMIAS
Authors: GUICHENEY P
Citation: P. Guicheney, INHERITED ARRHYTHMIAS, European journal of human genetics, 6, 1998, pp. 11-11
IDENTIFICATION OF A NEW LOCUS FOR CONGENITAL MUSCULAR-DYSTROPHY WITH RIGID SPINE SYNDROME TO CHROMOSOME 1P35-36
Authors: MOGHADASZADEH B DESGUERRE I TOPALOGLU H MUNTONI F PAVEK S MAYER M SEWRY C FARDEAU M TOME FMS GUICHENEY P
Citation: B. Moghadaszadeh et al., IDENTIFICATION OF A NEW LOCUS FOR CONGENITAL MUSCULAR-DYSTROPHY WITH RIGID SPINE SYNDROME TO CHROMOSOME 1P35-36, European journal of human genetics, 6, 1998, pp. 506-506
MOLECULAR-BASIS OF THE JERVELL AND LANGE-NIELSEN (JLN) SYNDROME
Authors: NEYROUD N DENJOY I DONGER C SCHWARTZ K COUMEL P GUICHENEY P
Citation: N. Neyroud et al., MOLECULAR-BASIS OF THE JERVELL AND LANGE-NIELSEN (JLN) SYNDROME, European journal of human genetics, 6, 1998, pp. 1172-1172
MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY WITH SEVERE MENTAL-RETARDATION AND NORMAL CRANIAL MRI - A REPORT OF 2 SIBLINGS
Authors: TOPALOGLU H TALIM B VIGNIER N HELBLINGLECLERC A YETUK M AFSIN IE CAGLAR M KALE G GUICHENEY P
Citation: H. Topaloglu et al., MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY WITH SEVERE MENTAL-RETARDATION AND NORMAL CRANIAL MRI - A REPORT OF 2 SIBLINGS, Neuromuscular disorders, 8(3-4), 1998, pp. 169-174
MOLECULAR-BASIS OF INHERITED ARRHYTHMIAS
Authors: GUICHENEY P BARHANIN J LEMAREC H
Citation: P. Guicheney et al., MOLECULAR-BASIS OF INHERITED ARRHYTHMIAS, MS. Medecine sciences, 14(10), 1998, pp. 1025-1035
CONGENITAL LONG QT SYNDROME
Authors: LUPOGLAZOFF JM DENJOY I NEYROUD N GUICHENEY P CASASOPRANA A COUMEL P
Citation: Jm. Lupoglazoff et al., CONGENITAL LONG QT SYNDROME, La Presse medicale, 27(21), 1998, pp. 1029-1034
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY - CARDIAC ULTRASONIC ABNORMALITIES IN GENETICALLY AFFECTED SUBJECTS WITHOUT ECHOCARDIOGRAPHIC EVIDENCEOF LEFT-VENTRICULAR HYPERTROPHY
Authors: HAGEGE AA DUBOURG O DESNOS M MIROCHNIK R ISNARD G BONNE G CARRIER L GUICHENEY P BOUHOUR JB SCHWARTZ K KOMAJDA M
Citation: Aa. Hagege et al., FAMILIAL HYPERTROPHIC CARDIOMYOPATHY - CARDIAC ULTRASONIC ABNORMALITIES IN GENETICALLY AFFECTED SUBJECTS WITHOUT ECHOCARDIOGRAPHIC EVIDENCEOF LEFT-VENTRICULAR HYPERTROPHY, European heart journal, 19(3), 1998, pp. 490-499
DIAGNOSTIC PERFORMANCE OF QT INTERVAL VARIABLES FROM 24-H ELECTROCARDIOGRAPHY IN THE LONG QT SYNDROME
Authors: NEYROUD N MAISONBLANCHE P DENJOY I CHEVRET S DONGER C DAUSSE E FAYN J BADILINI F MENHABI N SCHWARTZ K GUICHENEY P COUMEL P
Citation: N. Neyroud et al., DIAGNOSTIC PERFORMANCE OF QT INTERVAL VARIABLES FROM 24-H ELECTROCARDIOGRAPHY IN THE LONG QT SYNDROME, European heart journal, 19(1), 1998, pp. 158-165
CONGENITAL MUSCULAR-DYSTROPHY WITH PARTIAL LAMININ ALPHA-2 CHAIN (MEROSIN) DEFICIENCY - IMMUNOCYTOCHEMICAL AND MOLECULAR STUDIES
Authors: TOME FMS HE Y CHEVALLAY M NICOLAS V CRUAUD C HORI H MIZUTA T ESTOURNET B BAROIS A FARDEAU M GUICHENEY P
Citation: Fms. Tome et al., CONGENITAL MUSCULAR-DYSTROPHY WITH PARTIAL LAMININ ALPHA-2 CHAIN (MEROSIN) DEFICIENCY - IMMUNOCYTOCHEMICAL AND MOLECULAR STUDIES, Neurology, 50(4), 1998, pp. 15004-15004
PCR BASED MUTATION SCREENING OF THE LAMININ ALPHA-2 CHAIN GENE (LAMA2) - APPLICATION TO PRENATAL-DIAGNOSIS AND SEARCH FOR FOUNDER EFFECTS IN CONGENITAL MUSCULAR-DYSTROPHY
Authors: GUICHENEY P VIGNIER N ZHANG X HE Y CRUAUD C FREY V HELBLINGLECLERC A RICHARD P ESTOURNET B MERLINI L TOPALOGLU H MORA M HARPEY JP HAENGGELI CA BAROIS A HAINQUE B SCHWARTZ K TOME FMS FARDEAU M TRYGGVASON K
Citation: P. Guicheney et al., PCR BASED MUTATION SCREENING OF THE LAMININ ALPHA-2 CHAIN GENE (LAMA2) - APPLICATION TO PRENATAL-DIAGNOSIS AND SEARCH FOR FOUNDER EFFECTS IN CONGENITAL MUSCULAR-DYSTROPHY, Journal of Medical Genetics, 35(3), 1998, pp. 211-217
MUTATIONS IN A DOMINANT-NEGATIVE ISOFORM CORRELATES WITH PHENOTYPE ININHERITED LONG-QT-SYNDROME-1
Authors: MOHAMMADPANAH R DEMOLOMBE S NEYROUD N GUICHENEY P KYNDT F BARO I ESCANDE D
Citation: R. Mohammadpanah et al., MUTATIONS IN A DOMINANT-NEGATIVE ISOFORM CORRELATES WITH PHENOTYPE ININHERITED LONG-QT-SYNDROME-1, Circulation, 98(17), 1998, pp. 281-281
FUNCTIONAL EXPRESSION OF A KVLQT1 MISSENSE MUTATION THAT CAUSES A FORME-FRUSTE LONG QT SYNDROME
Authors: CHOUABE C NEYROUD N RICHARD P DENJOY I DRICI MD HAINQUE B COUMEL P BARHANIN J GUICHENEY P
Citation: C. Chouabe et al., FUNCTIONAL EXPRESSION OF A KVLQT1 MISSENSE MUTATION THAT CAUSES A FORME-FRUSTE LONG QT SYNDROME, Circulation, 98(17), 1998, pp. 2464-2464
FUNCTIONAL EXPRESSION OF 2 NOVEL KVLQT1 MUTATIONS ASSOCIATED TO THE ROMANO-WARD LONG QT SYNDROME
Authors: CHOUABE C NEYROUD N DONGER C DENJOY I DRICI MD COUMEL P BARHANIN J GUICHENEY P
Citation: C. Chouabe et al., FUNCTIONAL EXPRESSION OF 2 NOVEL KVLQT1 MUTATIONS ASSOCIATED TO THE ROMANO-WARD LONG QT SYNDROME, Circulation, 98(17), 1998, pp. 2466-2466
MORPHOLOGICAL ABNORMALITIES OF THE T-WAVE ON HOLTER RECORDINGS HAVE ADIAGNOSTIC BUT NOT A PROGNOSTIC VALUE
Authors: GUICHENEY P BERTHET W DONGER C RICHARD P NEYROUD N KLUG D MAISONBLANCHE P HAINQUE B COUMEL P DENJOY I
Citation: P. Guicheney et al., MORPHOLOGICAL ABNORMALITIES OF THE T-WAVE ON HOLTER RECORDINGS HAVE ADIAGNOSTIC BUT NOT A PROGNOSTIC VALUE, Circulation, 98(17), 1998, pp. 3531-3531
QT INTERVAL AND DRUG-THERAPY - RECOMMENDA TIONS FOR DRUG PRESCRIPTIONIN PATIENTS WITH THE LONG QT SYNDROME
Authors: LEHEUZEY JY DAVY JM WEISSENBURGER J GUICHENEY P LEMAREC H CHEVALIER P DENJOY I LEENHARDT A CHARPENTIER F COUMEL P
Citation: Jy. Leheuzey et al., QT INTERVAL AND DRUG-THERAPY - RECOMMENDA TIONS FOR DRUG PRESCRIPTIONIN PATIENTS WITH THE LONG QT SYNDROME, Archives des maladies du coeur et des vaisseaux, 91(1), 1998, pp. 59-66
MUTATION IN THE HUMAN ACETYLCHOLINESTERASE-ASSOCIATED COLLAGEN GENE, COLQ, IS RESPONSIBLE FOR CONGENITAL MYASTHENIC SYNDROME WITH END-PLATEACETYLCHOLINESTERASE DEFICIENCY (TYPE IC)
Authors: DONGER C KREJCI E SERRADELL AP EYMARD B BON S NICOLE S CHATEAU D GARY F FARDEAU M MASSOULIE J GUICHENEY P
Citation: C. Donger et al., MUTATION IN THE HUMAN ACETYLCHOLINESTERASE-ASSOCIATED COLLAGEN GENE, COLQ, IS RESPONSIBLE FOR CONGENITAL MYASTHENIC SYNDROME WITH END-PLATEACETYLCHOLINESTERASE DEFICIENCY (TYPE IC), American journal of human genetics, 63(4), 1998, pp. 967-975
IDENTIFICATION OF A NEW LOCUS FOR A PECULIAR FORM OF CONGENITAL MUSCULAR-DYSTROPHY WITH EARLY RIGIDITY OF THE SPINE, ON CHROMOSOME 1P35-36
Authors: MOGHADASZADEH B DESGUERRE I TOPALOGLU H MUNTONI FN PAVEK S SEWRY C MAYER M FARDEAU M TOME FMS GUICHENEY P
Citation: B. Moghadaszadeh et al., IDENTIFICATION OF A NEW LOCUS FOR A PECULIAR FORM OF CONGENITAL MUSCULAR-DYSTROPHY WITH EARLY RIGIDITY OF THE SPINE, ON CHROMOSOME 1P35-36, American journal of human genetics, 62(6), 1998, pp. 1439-1445
A NOVEL MUTATION IN THE POTASSIUM CHANNEL GENE KVLQT1 CAUSES THE JERVELL AND LANGE-NIELSEN CARDIOAUDITORY SYNDROME
Authors: NEYROUD N TESSON F DENJOY I LEIBOVICI M DONGER C BARHANIN J FAURE S GARY F COUMEL P PETIT C SCHWARTZ K GUICHENEY P
Citation: N. Neyroud et al., A NOVEL MUTATION IN THE POTASSIUM CHANNEL GENE KVLQT1 CAUSES THE JERVELL AND LANGE-NIELSEN CARDIOAUDITORY SYNDROME, Nature genetics, 15(2), 1997, pp. 186-189
GENETICS OF LAMININ ALPHA-2 CHAIN (OR MEROSIN) DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY - FROM IDENTIFICATION OF MUTATIONS TO PRENATAL-DIAGNOSIS
Authors: GUICHENEY P VIGNIER N HELBLINGLECLERC A NISSINEN M ZHANG X CRUAUD C LAMBERT JC RICHELME C TOPALOGLU H MERLINI L BAROIS A SCHWARTZ K TOME FMS TRYGGVASON K FARDEAU M
Citation: P. Guicheney et al., GENETICS OF LAMININ ALPHA-2 CHAIN (OR MEROSIN) DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY - FROM IDENTIFICATION OF MUTATIONS TO PRENATAL-DIAGNOSIS, Neuromuscular disorders, 7(3), 1997, pp. 180-186
KVLQT1, THE SAME POTASSIUM CHANNEL IN HEA RT AND EAR
Authors: SCHWARTZ K GUICHENEY P
Citation: K. Schwartz et P. Guicheney, KVLQT1, THE SAME POTASSIUM CHANNEL IN HEA RT AND EAR, MS. Medecine sciences, 13(5), 1997, pp. 718-720
THE ROLE OF IMMUNOCYTOCHEMISTRY AND LINKAGE ANALYSIS IN THE PRENATAL-DIAGNOSIS OF MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY
Authors: NAOM I DALESSANDRO M SEWRY C FERLINI A TOPALOGLU H HELBLINGLECLERC A GUICHENEY P SCHWARTZ K AKCOREN Z DUBOWITZ V MUNTONI F
Citation: I. Naom et al., THE ROLE OF IMMUNOCYTOCHEMISTRY AND LINKAGE ANALYSIS IN THE PRENATAL-DIAGNOSIS OF MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY, Human genetics, 99(4), 1997, pp. 535-540
PROPERTIES OF KVLQT1 K-WARD AND JERVELL AND LANGE-NIELSEN INHERITED CARDIAC-ARRHYTHMIAS( CHANNEL MUTATIONS IN ROMANO)
Authors: CHOUABE C NEYROUD N GUICHENEY P LAZDUNSKI M ROMEY G BARHANIN J
Citation: C. Chouabe et al., PROPERTIES OF KVLQT1 K-WARD AND JERVELL AND LANGE-NIELSEN INHERITED CARDIAC-ARRHYTHMIAS( CHANNEL MUTATIONS IN ROMANO), EMBO journal, 16(17), 1997, pp. 5472-5479
Risultati: 1-25 | 26-50 | 51-61