Literature DB >> 20089974

Williams-Beuren syndrome.

Barbara R Pober1.   

Abstract

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Year:  2010        PMID： 20089974     DOI： 10.1056/NEJMra0903074

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  236 in total

1.  De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.

Authors:  Ilaria Guella; Marna B McKenzie; Daniel M Evans; Sarah E Buerki; Eric B Toyota; Margot I Van Allen; Mohnish Suri; Frances Elmslie; Marleen E H Simon; Koen L I van Gassen; Delphine Héron; Boris Keren; Caroline Nava; Mary B Connolly; Michelle Demos; Matthew J Farrer
Journal:  Am J Hum Genet       Date:  2017-08-03       Impact factor: 11.025

2.  Transcriptome profile in Williams-Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits.

Authors:  Anna Antonell; Mireia Vilardell; Luis A Pérez Jurado
Journal:  Hum Genet       Date:  2010-04-17       Impact factor: 4.132

Review 3.  Casting a net on dendritic spines: the extracellular matrix and its receptors.

Authors:  Lorraine E Dansie; Iryna M Ethell
Journal:  Dev Neurobiol       Date:  2011-11       Impact factor: 3.964

Review 4.  CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.

Authors:  Benjamin J Landis; David S Cooper; Robert B Hinton
Journal:  Cardiol Young       Date:  2015-09-08       Impact factor: 1.093

5.  A Novel Imaging Finding in Williams Syndrome: The Coral Sign.

Authors:  Jeremy R Burt; Kimberly Beavers; Melissa Kendall; Michael Valente; Jorge A Garcia
Journal:  Pediatr Cardiol       Date:  2018-05-07       Impact factor: 1.655

6.  Intervention and management of congenital left heart obstructive lesions.

Authors:  Amy Schimke; Arjun Majithia; Robert Baumgartner; Amy French; David Goldberg; Jeffrey Kuvin
Journal:  Curr Treat Options Cardiovasc Med       Date:  2013-10

7.  Natural killer cells inhibit oxaliplatin-resistant colorectal cancer by repressing WBSCR22 via upregulating microRNA-146b-5p.

Authors:  Haiyan Zhao; Wuyun Su; Qingmei Kang; Ze Xing; Xue Lin; Zhongjun Wu
Journal:  Am J Cancer Res       Date:  2018-05-01       Impact factor: 6.166

Review 8.  Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

Authors:  Mary Ella Pierpont; Martina Brueckner; Wendy K Chung; Vidu Garg; Ronald V Lacro; Amy L McGuire; Seema Mital; James R Priest; William T Pu; Amy Roberts; Stephanie M Ware; Bruce D Gelb; Mark W Russell
Journal:  Circulation       Date:  2018-11-20       Impact factor: 29.690

9.  LIMK1 regulates long-term memory and synaptic plasticity via the transcriptional factor CREB.

Authors:  Zarko Todorovski; Suhail Asrar; Jackie Liu; Ner Mu Nar Saw; Krutika Joshi; Miguel A Cortez; O Carter Snead; Wei Xie; Zhengping Jia
Journal:  Mol Cell Biol       Date:  2015-02-02       Impact factor: 4.272

10.  Hypercalcemia in Patients with Williams-Beuren Syndrome.

Authors:  Sampat Sindhar; Michael Lugo; Mark D Levin; Joshua R Danback; Benjamin D Brink; Eric Yu; Dennis J Dietzen; Amy L Clark; Carolyn A Purgert; Jessica L Waxler; Robert W Elder; Barbara R Pober; Beth A Kozel
Journal:  J Pediatr       Date:  2016-08-26       Impact factor: 4.406
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