Zobrazeno 1 - 9 of 9 pro vyhledávání: '"Carole Harris-Kerr"'
1
Genome-wide scans of three independent sets of 90 Irish multiplex schizophrenia families and follow-up of selected regions in all families provides evidence for multiple susceptibility genes
Autor: Brandon Wormley, Hannah Sadek, Dermot Walsh, Carole Harris-Kerr, Bharat Kadambi, Kenneth S. Kendler, Francis A. O'Neill, Richard E. Straub, Bradley T. Webb, Maxim V. Myakishev, C J MacLean, Yunlong Ma
Publikováno v: Molecular Psychiatry. 7:542-559
From our linkage study of Irish families with a high density of schizophrenia, we have previously reported evidence for susceptibility genes in regions 5q21-31, 6p24-21, 8p22-21, and 10p15-p11. In this report, we describe the cumulative results from
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d43b570301a5dc82fa3bb2e8faa242c8
https://doi.org/10.1038/sj.mp.4001051
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2
Haplotypes of four novel single nucleotide polymorphisms in the nicotinic acetylcholine receptor ?2-subunit (CHRNB2) gene show no association with smoking initiation or nicotine dependence
Autor: Kenneth S. Kendler, Richard E. Straub, Michael C. Neale, Michael A. Silverman, Hannah Sadek, Yunlong Ma, Carole Harris-Kerr, Brandon Wormley, Patrick F. Sullivan
Publikováno v: American Journal of Medical Genetics. 96:646-653
Several types of evidence, including experiments with mice that lack the nicotinic acetylcholine receptor beta2-subunit gene (CHRNB2), have suggested that a beta2-containing nicotinic receptor is necessary for at least some of the reinforcing propert
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ab72670dfefe1ac079d8d3a47774132f
https://doi.org/10.1002/1096-8628(20001009)96:5<646::aid-ajmg10>3.0.co
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5
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test
Autor: Guido D. Pollevick, Benjamin A. Salisbury, Michael J. Ackerman, Arthur A.M. Wilde, Janet L. Carr, David J. Tester, Jamie D. Kapplinger, Carole Harris-Kerr
Publikováno v: Heart rhythm, 6(9), 1297-1303. Elsevier
Background Long QT syndrome (LQTS) is a potentially lethal, highly treatable cardiac channelopathy for which genetic testing has matured from discovery to translation and now clinical implementation. Objectives Here we examine the spectrum and preval
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d919bfd8dfb18c2c4240a1e735753a8f
https://pubmed.ncbi.nlm.nih.gov/19716086
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6
Genetic Testing for Long-QT Syndrome Distinguishing Pathogenic Mutations From Benign Variants
Autor: Marielle Alders, Benjamin A. Salisbury, Suraj Kapa, Carole Harris-Kerr, Manish S. Pungliya, Michael J. Ackerman, Arthur A.M. Wilde, David J. Tester
Publikováno v: Circulation, 120(18), 1752-U31. Lippincott Williams and Wilkins
Background— Genetic testing for long-QT syndrome (LQTS) has diagnostic, prognostic, and therapeutic implications. Hundreds of causative mutations in 12 known LQTS-susceptibility genes have been identified. Genetic testing that includes the 3 most c
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfba8dbdb3faf6497d0f71681c022706
https://pure.amc.nl/en/publications/genetic-testing-for-longqt-syndrome-distinguishing-pathogenic-mutations-from-benign-variants(17d1872c-877a-4591-b21e-e3c0cac0b4ec).html
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7
Abstract 2966: Should a Minimum Corrected QT Interval (QTc) be a Prerequisite for Long QT Syndrome Genetic Testing?
Autor: David J Tester, Benjamin A Salisbury, Janet L Carr, Carole Harris-Kerr, Carol R Reed, Michael J Ackerman
Publikováno v: Circulation. 116
Background: Long QT Syndrome (LQTS) genetic testing has been available clinically since August 2004. In cases of bona fide LQTS, the yield of genetic testing is approximately 75%. Recently (HRS 2007), Priori and colleagues have suggested that referra
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1e12b248d71aaf08fff37ae509d05292
https://doi.org/10.1161/circ.116.suppl_16.ii_662-b
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8
Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia
Autor: Xu Wang, Bradley T. Webb, Yuxin Jiang, Kenneth S. Kendler, Richard E. Straub, F. Anthony O'Neill, Brandon Wormley, Avi Gibberman, C J MacLean, Dermot Walsh, Carole Harris-Kerr, Yunlong Ma, Maxim V. Myakishev, Anthony J. Cesare, Bharat Kadambi, Hannah Sadek
Publikováno v: American journal of human genetics. 71(2)
Prior evidence has supported the existence of multiple susceptibility genes for schizophrenia. Multipoint linkage analysis of the 270 Irish high-density pedigrees that we have studied, as well as results from several other samples, suggest that at le
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::887aefe362a1635457a661ef276e42bd
https://pubmed.ncbi.nlm.nih.gov/12098102
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