Literature DB >> 23798482

The "megalencephaly-capillary malformation" (MCAP) syndrome: the nomenclature of a highly recognizable multiple congenital anomaly syndrome.

Ghayda M Mirzaa, William B Dobyns.   

Abstract

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Year:  2013        PMID： 23798482     DOI： 10.1002/ajmg.a.35940

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  4 in total

1.  Activation of extracellular regulated kinase and mechanistic target of rapamycin pathway in focal cortical dysplasia.

Authors:  Vinit V Patil; Miguel Guzman; Angela N Carter; Geetanjali Rathore; Daniel Yoshor; Daniel Curry; Angus Wilfong; Satish Agadi; John W Swann; Adekunle M Adesina; Meenakshi B Bhattacharjee; Anne E Anderson
Journal:  Neuropathology       Date:  2015-09-18       Impact factor: 1.906

Review 2.  mTOR signaling in epilepsy: insights from malformations of cortical development.

Authors:  Peter B Crino
Journal:  Cold Spring Harb Perspect Med       Date:  2015-04-01       Impact factor: 6.915

3.  Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy.

Authors:  Viola Bianca Serio; Maria Palmieri; Lorenzo Loberti; Stefania Granata; Chiara Fallerini; Massimo Vaghi; Alessandra Renieri; Anna Maria Pinto
Journal:  J Clin Med       Date:  2022-06-28       Impact factor: 4.964

Review 4.  The Klippel-Trénaunay Syndrome in 2022: Unravelling Its Genetic and Molecular Profile and Its Link to the Limb Overgrowth Syndromes.

Authors:  Patrick Harnarayan; Dave Harnanan
Journal:  Vasc Health Risk Manag       Date:  2022-04-02
  4 in total

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