搜索页_ CA/CN

设为首页

收藏本站

网站地图 | English | 公务邮箱

About the library

Background
History
Leadership
Organization

Readers' Guide

Opening Hours
Collections
Help Via Email

Publications

Electronic Information Resources

常用资源

在“Elsevier电子期刊”中，命中：356条，耗时：小于0.01 秒

1.Genetic disorders in primary aldosteronism—familial and somatic

作者：John W. Funder ^{john.funder@hudson.org.au}

关键词：Aldosterone ; Chimera ; CYP11B1 ; CYP11B2 ; KCNJ5 ; ATP1A1 ; ATP2B3 ; CACNA1D ; CACNA1H ; CTNNB1

刊名：The Journal of Steroid Biochemistry and Molecular Biology

出版年：2017

2.Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current

作者：Andrew P. Landstrom^a ; ¹ ; Nicole J. Boczek^b ; ^c ; ¹ ; Dan Ye^b ; ¹ ; Christina Y. Miyake^a ; Caridad M. De la Uz^a ; Hugh D. Allen^a ; Michael J. Ackerman^b ; ^d ; ^{ackerman.michael@mayo.edu" class="auth_mail" title="E-mail the corresponding author} ; Jeffrey J. Kim^a ; ^{jjkim@texaschildrens.org" class="auth_mail" title="E-mail the corresponding author}

关键词：CACNA1C ; the CACNA1C-encoded α1c α-subunit of the L-type calcium channel ; COTS ; cardiac-only Timothy syndrome ; LQTS ; long QT syndrome ; LTCC ; L-type calcium channel ; SCD ; sudden cardiac death ; SIDS ; sudden infant death syndrome ; TS ; Timothy syndrome

刊名：International Journal of Cardiology

出版年：2016

3.Ca_V1.3 (Cacna1d) Gain-of-Function De Novo Missense Mutations are Associated with CNS Disorders

作者：Alexandra Pinggera¹ ; Luisa Mackenroth² ; Jö ; rg Striessnig¹

刊名：Biophysical Journal

出版年：2017

4.Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay

作者：Derek L. Weyhrauch ; MD^a ; ¹ ; Dan Ye ; MD^b ; ¹ ; Nicole J. Boczek ; PhD^c ; David J. Tester ; BS^b ; Ralitza H. Gavrilova ; MD^d ; ^e ; Marc C. Patterson ; MD^a ; ^d ; ^e ; Eric D. Wieben ; PhD^d ; ^f ; Michael J. Ackerman ; MD ; PhD^b ; ^g ; ^h ; ^{ackerman.michael@mayo.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：whole exome sequencing ; genetics ; CACNA1A ; P/Q-type calcium channel ; congenital hypotonia ; developmental delay

刊名：Pediatric Neurology

出版年：2016

5.Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De Novo CACNA1A Variant

作者：Heather M. Byers ; MD^a ; Christopher W. Beatty ; MD^b ; ^c ; Si Houn Hahn ; MD ; PhD^d ; ^e ; Sidney M. Gospe Jr. ; MD ; PhD^b ; ^c ; ^f ; ^{sgospe@uw.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：CACNA1A ; epilepsy ; epileptic encephalopathy ; channelopathy ; calcium ; genetic ; lamotrigine

刊名：Pediatric Neurology

出版年：2016

6.Generalized reduced rank latent factor regression for high dimensional tensor fields, and neuroimaging-genetic applications

作者：Chenyang Tao^a ; ^b ; Thomas E. Nichols^c ; Xue Hua^d ; Christopher R.K. Ching^d ; ^e ; Edmund T. Rolls^b ; ^f ; Paul M. Thompson^d ; ^g ; Jianfeng Feng^a ; ^b ; ^h ; ^{jianfeng64@gmail.com} ; The Alzheimer's Disease Neuroimaging Initiative¹

关键词：Dimension reduction ; Generalized linear model ; High dimensional tensor field ; Latent factor ; Least squares kernel machines ; Nuclear norm regularization ; Reduced rank regression ; Riemannian manifold

刊名：NeuroImage

出版年：2017

7.Gene expression biomarkers of heat stress in scleractinian corals: Promises and limitations

作者：Yohan D. Louis^a ; Ranjeet Bhagooli^b ; ^{r.bhagooli@uom.ac.mu} ; Carly D. Kenkel^c ; Andrew C. Baker^d ; Sabrina D. Dyall^a

关键词：Coral ; Gaps ; Gene expression biomarkers ; Thermal stress ; Variations

刊名：Comparative Biochemistry and Physiology Part C: Toxicology & Pharmacology

出版年：2017

8.Association of CACNA1C and SYNE1 in offspring of patients with psychiatric disorders

作者：Patricia Gassó ; ^a ; ^g ; ^{pgasso@ub.edu" class="auth_mail" title="E-mail the corresponding author} ; Vanessa Sá ; nchez-Gistau^b ; ^f ; Sergi Mas^a ; ^f ; ^g ; Gisela Sugranyes^b ; ^g ; Natalia Rodrí ; guez^a ; Daniel Boloc^a ; Elena de la Serna^b ; ^f ; Soledad Romero^b ; ^f ; Dolores Moreno^c ; ^e ; ^f ; ^h ; Carmen Moreno^c ; ^e ; ^f ; ^h ; Covadonga M. Dí ; az-Caneja^c ; ^e ; ^f ; ^h ; Amalia Lafuente^a ; ^f ; ^g ; Josefina Castro-Fornieles^b ; ^d ; ^f ; ^g

关键词：Schizophrenia ; Bipolar disorder ; Offspring ; CACNA1C ; SYNE1 ; Polymorphism

刊名：Psychiatry Research

出版年：2016

9.CACN-1 is required in the Caenorhabditis elegans somatic gonad for proper oocyte development

作者：Alyssa D. Cecchetelli ; Julie Hugunin ; Hiba Tannoury ; Erin J. Cram ; ^{e.cram@neu.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：CACN-1 ; Somatic gonad ; Sperm-oocyte switch ; Spliceosome ; Post-transcriptional regulation ; C. elegans

刊名：Developmental Biology

出版年：2016

10.CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism

作者：Georgios Daniil^a ; ^b ; ¹ ; Fabio L Fernandes-Rosa^a ; ^b ; ^c ; ¹ ; ^{fabio.fernandes-rosa@inserm.fr} ; Jean Chemin^d ; ^e ; Iulia Blesneac^d ; ^e ; Jacques Beltrand^b ; ^f ; ^g ; ^h ; Michel Polak^b ; ^f ; ^g ; ^h ; Xavier Jeunemaitre^a ; ^b ; ^c ; Sheerazed Boulkroun^a ; ^b ; Laurence Amar^a ; ^b ; ⁱ ; Tim M Strom^j ; ^k ; Philippe Lory^d ; ^e ; Maria-Christina Zennaro^a ; ^b ; ^c ; ^{maria-christina.zennaro@inserm.fr}

关键词：PA ; primary aldosteronism ; APA ; aldosterone producing adenoma ; FH ; familial hyperaldosteronism ; WES ; whole exome sequencing

刊名：EBioMedicine

出版年：2016

按检索点细分(356)

题名(130)

作者(1)

关键词(95)

文摘(288)

按出版年细分(356)

2027年及以后(16)

2017年(4)

2016年(40)

2015年(17)

2014年(1)

2013年(28)

2012年(26)

2011年(25)

2010年(20)

2009年(26)

2008年(17)

2007年(26)

2006年(19)

2005年(10)

2004年(4)

2003年(6)

2002年(8)

2001年(11)

2000年(5)

2000年及以前(47)