Literature DB >> 12221183

Evidence of somatic mosaicism in Sturge-Weber syndrome.

A H M Mahbubul Huq1, Diane C Chugani, Bharati Hukku, Fatema Jahan Serajee.   

Abstract

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Year:  2002        PMID： 12221183     DOI： 10.1212/wnl.59.5.780

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  9 in total

1.  Cell proliferation and oxidative stress pathways are modified in fibroblasts from Sturge-Weber syndrome patients.

Authors:  Shilpa D Kadam; Marjan Gucek; Robert N Cole; Paul A Watkins; Anne M Comi
Journal:  Arch Dermatol Res       Date:  2012-03-10       Impact factor: 3.017

2.  Behavioral manifestations of sturge-weber syndrome: a case report.

Authors:  Vishal Madaan; Vijay Dewan; Sriram Ramaswamy; Ashish Sharma
Journal:  Prim Care Companion J Clin Psychiatry       Date:  2006

Review 3.  Updates and future horizons on the understanding, diagnosis, and treatment of Sturge-Weber syndrome brain involvement.

Authors:  Warren Lo; Douglas A Marchuk; Karen L Ball; Csaba Juhász; Lori C Jordan; Joshua B Ewen; Anne Comi
Journal:  Dev Med Child Neurol       Date:  2011-12-23       Impact factor: 5.449

4.  The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome.

Authors:  Mitsuko Nakashima; Masakazu Miyajima; Hidenori Sugano; Yasushi Iimura; Mitsuhiro Kato; Yoshinori Tsurusaki; Noriko Miyake; Hirotomo Saitsu; Hajime Arai; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2014-11-06       Impact factor: 3.172

5.  Cerebrofacial venous metameric syndrome (CVMS) 3: Sturge-Weber syndrome with bilateral lymphatic/venous malformations of the mandible.

Authors:  N Ramli; M Sachet; C Bao; P Lasjaunias
Journal:  Neuroradiology       Date:  2003-09-13       Impact factor: 2.804

Review 6.  Sturge-Weber syndrome: an update on the relevant issues for neurosurgeons.

Authors:  Federico Bianchi; Anna Maria Auricchio; Domenica Immacolata Battaglia; Daniela Rosaria Pia Chieffo; Luca Massimi
Journal:  Childs Nerv Syst       Date:  2020-06-21       Impact factor: 1.475

7.  Glaucoma in Patients with Eyes Close to Areas Affected by Port-wine Stain has Lateral and Gender Predilection.

Authors:  Yue Wu; Ru-Jing Yu; Di Chen; Li Xu; Mao Li; Li Zhu; Chun-Yu Guo; Wen-Yi Guo
Journal:  Chin Med J (Engl)       Date:  2017-12-20       Impact factor: 2.628

8.  Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome.

Authors:  Yuri Uchiyama; Mitsuko Nakashima; Satoshi Watanabe; Masakazu Miyajima; Masataka Taguri; Satoko Miyatake; Noriko Miyake; Hirotomo Saitsu; Hiroyuki Mishima; Akira Kinoshita; Hajime Arai; Ko-ichiro Yoshiura; Naomichi Matsumoto
Journal:  Sci Rep       Date:  2016-03-09       Impact factor: 4.379

9.  Genetic syndromes with vascular malformations - update on molecular background and diagnostics.

Authors:  Adam Ustaszewski; Joanna Janowska-Głowacka; Katarzyna Wołyńska; Anna Pietrzak; Magdalena Badura-Stronka
Journal:  Arch Med Sci       Date:  2020-02-25       Impact factor: 3.318
  9 in total

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