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Results: 1-12 |
Results: 12
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
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
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
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
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
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
ION-CHANNEL DISORDERS
Authors: GUICHENEY P NEYROUD N DONGER C BERTHET M RICHARD P HAINQUE B SCHWARTZ K DENJOY I COUMEL P
Citation: P. Guicheney et al., ION-CHANNEL DISORDERS, Journal of Medical Genetics, 34, 1997, pp. 31-31
KVLQT1 C-TERMINAL MISSENSE MUTATION CAUSES A FORME-FRUSTE LONG-QT SYNDROME
Authors: DONGER C DENJOY I BERTHET M NEYROUD N CRUAUD C BENNACEUR M CHIVORET G SCHWARTZ K COUMEL P GUICHENEY P
Citation: C. Donger et al., KVLQT1 C-TERMINAL MISSENSE MUTATION CAUSES A FORME-FRUSTE LONG-QT SYNDROME, Circulation, 96(9), 1997, pp. 2778-2781
MUTATIONS IN THE POTASSIUM CHANNEL KVLQT1 CAUSE JERVELL-AND-LANGE-NIELSEN-SYNDROME
Authors: NEYROUD N DENJOY IF DONGER C GARY F VILLAIN E COUMEL P SCHWARTZ K GUICHENEY P
Citation: N. Neyroud et al., MUTATIONS IN THE POTASSIUM CHANNEL KVLQT1 CAUSE JERVELL-AND-LANGE-NIELSEN-SYNDROME, Circulation, 96(8), 1997, pp. 307-307
KVLQT1 MUTATIONS IN LONG-QT-SYNDROME - PHENOTYPE GENOTYPE ANALYSIS
Authors: GUICHENEY P DONGER C DENJOY IF NEYROUD N BERTHET M CRUAUD C COUMEL P SCHWARTZ K
Citation: P. Guicheney et al., KVLQT1 MUTATIONS IN LONG-QT-SYNDROME - PHENOTYPE GENOTYPE ANALYSIS, Circulation, 96(8), 1997, pp. 3477-3477
EXCLUSION OF KCNE1 (ISK) AS A CANDIDATE GENE FOR JERVELL AND LANGE-NIELSEN SYNDROME
Authors: TESSON F DONGER C DENJOY I BERTHET M BENNACEUR M PETIT C COUMEL P SCHWARTZ K GUICHENEY P
Citation: F. Tesson et al., EXCLUSION OF KCNE1 (ISK) AS A CANDIDATE GENE FOR JERVELL AND LANGE-NIELSEN SYNDROME, Journal of Molecular and Cellular Cardiology, 28(9), 1996, pp. 2051-2055
Risultati: 1-12 |