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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2008 1
2011 2
2012 1
2013 2
2014 6
2015 3
2016 1
2017 2
2018 1
2020 1
2021 2
2023 1
2024 0

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19 results

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Page 1
Syndromic forms of congenital hyperinsulinism.
Zenker M, Mohnike K, Palm K. Zenker M, et al. Front Endocrinol (Lausanne). 2023 Mar 30;14:1013874. doi: 10.3389/fendo.2023.1013874. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37065762 Free PMC article. Review.
We assess the evidence of the association, as well as the prevalence of CHI, its possible pathophysiology and its natural course in the respective conditions. In many of the CHI-associated syndromic conditions, the mechanism of dysregulation of glucose-sensing and insulin …
We assess the evidence of the association, as well as the prevalence of CHI, its possible pathophysiology and its natural course in t …
Genetics of long QT syndrome.
Tester DJ, Ackerman MJ. Tester DJ, et al. Methodist Debakey Cardiovasc J. 2014 Jan-Mar;10(1):29-33. doi: 10.14797/mdcj-10-1-29. Methodist Debakey Cardiovasc J. 2014. PMID: 24932360 Free PMC article. Review.
Modeling psychiatric disorders with patient-derived iPSCs.
Wen Z, Christian KM, Song H, Ming GL. Wen Z, et al. Curr Opin Neurobiol. 2016 Feb;36:118-27. doi: 10.1016/j.conb.2015.11.003. Epub 2015 Dec 17. Curr Opin Neurobiol. 2016. PMID: 26705693 Free PMC article. Review.
Induced pluripotent stem cells (iPSCs) reprogrammed from patient somatic cells offer an unprecedented opportunity to recapitulate both normal and pathologic human tissue and organ development, and provides new approaches for understanding disease mechanisms and for drug discovery …
Induced pluripotent stem cells (iPSCs) reprogrammed from patient somatic cells offer an unprecedented opportunity to recapitulate both norma …
Congenital long QT syndrome.
Crotti L, Celano G, Dagradi F, Schwartz PJ. Crotti L, et al. Orphanet J Rare Dis. 2008 Jul 7;3:18. doi: 10.1186/1750-1172-3-18. Orphanet J Rare Dis. 2008. PMID: 18606002 Free PMC article. Review.
If the patient has one more syncope despite a full dose beta-blockade, left cardiac sympathetic denervation (LCSD) should be performed without hesitation and implantable cardioverter defibrillator (ICD) therapy should be considered with the final decision being based on the indiv …
If the patient has one more syncope despite a full dose beta-blockade, left cardiac sympathetic denervation (LCSD) should be performed witho …
The landscape of human mutually exclusive splicing.
Hatje K, Rahman RU, Vidal RO, Simm D, Hammesfahr B, Bansal V, Rajput A, Mickael ME, Sun T, Bonn S, Kollmar M. Hatje K, et al. Mol Syst Biol. 2017 Dec 14;13(12):959. doi: 10.15252/msb.20177728. Mol Syst Biol. 2017. PMID: 29242366 Free PMC article.
In order to obtain a first genomewide estimate of the extent and biological role of mutually exclusive splicing in humans, we predicted and subsequently validated mutually exclusive exons (MXEs) using 515 publically available RNA-Seq datasets. ...More than 82% of the MXE c …
In order to obtain a first genomewide estimate of the extent and biological role of mutually exclusive splicing in humans, we predicted …
Ion channel functional candidate genes in multigenic neuropsychiatric disease.
Gargus JJ. Gargus JJ. Biol Psychiatry. 2006 Jul 15;60(2):177-85. doi: 10.1016/j.biopsych.2005.12.008. Epub 2006 Feb 21. Biol Psychiatry. 2006. PMID: 16497276 Review.
While the complexity of neuroanatomy obscures functional analysis of mutations causing monogenic seizure, ataxia, or migraine syndromes, extrapolation from the cardiac (Long QT [LQT]) and muscle (Periodic Paralysis) channelopathy syndromes provides a simplified predictive …
While the complexity of neuroanatomy obscures functional analysis of mutations causing monogenic seizure, ataxia, or migraine syndromes, ext …
Preoperative electrocardiograms for nonsyndromic children with hand syndactyly.
Nuzzi LC, Pike CM, Lewine EB, Cerrato FE, Alexander ME, Ferrari LR, Bae DS, Taghinia A, Waters PM, Labow BI. Nuzzi LC, et al. J Hand Surg Am. 2015 Mar;40(3):452-5. doi: 10.1016/j.jhsa.2014.10.053. Epub 2014 Dec 24. J Hand Surg Am. 2015. PMID: 25542431
Our study does not support routine EKG testing for children referred for syndactyly release, and we have abandoned this practice. TYPE OF STUDY/LEVEL OF EVIDENCE: Prognostic IV....
Our study does not support routine EKG testing for children referred for syndactyly release, and we have abandoned this practice. TYPE OF ST …
A multicentre study of patients with Timothy syndrome.
Walsh MA, Turner C, Timothy KW, Seller N, Hares DL, James AF, Hancox JC, Uzun O, Boyce D, Stuart AG, Brennan P, Sarton C, McGuire K, Newbury-Ecob RA, Mcleod K. Walsh MA, et al. Europace. 2018 Feb 1;20(2):377-385. doi: 10.1093/europace/euw433. Europace. 2018. PMID: 28371864
Inhibition of late sodium current by mexiletine: a novel pharmotherapeutical approach in timothy syndrome.
Gao Y, Xue X, Hu D, Liu W, Yuan Y, Sun H, Li L, Timothy KW, Zhang L, Li C, Yan GX. Gao Y, et al. Circ Arrhythm Electrophysiol. 2013 Jun;6(3):614-22. doi: 10.1161/CIRCEP.113.000092. Epub 2013 Apr 11. Circ Arrhythm Electrophysiol. 2013. PMID: 23580742 Review.
BACKGROUND: Timothy syndrome (TS) is a rare long-QT syndrome caused by CACNA1C mutations G406R in exon 8A (TS1) and G402S/G406R in exon 8 (TS2). Management of TS is a challenge and prognosis is poor. This study aimed to explore the inheritance pattern and mechanism of an I …
BACKGROUND: Timothy syndrome (TS) is a rare long-QT syndrome caused by CACNA1C mutations G406R in exon 8A (TS1) and G402S/G406R in exon 8 (T …
19 results