Literature DB >> 10053179

Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis.

J Kwiatkowska1, J Wigowska-Sowinska, D Napierala, R Slomski, D J Kwiatkowski.   

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Year:  1999        PMID： 10053179     DOI： 10.1056/NEJM199903043400905

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


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  30 in total

Review 1.  Advances in the understanding of tuberous sclerosis.

Authors:  F J O'Callaghan; J P Osborne
Journal:  Arch Dis Child       Date:  2000-08       Impact factor: 3.791

2.  Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents.

Authors:  M T Sgambati; C Stolle; P L Choyke; M M Walther; B Zbar; W M Linehan; G M Glenn
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

3.  Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis.

Authors:  T Carsillo; A Astrinidis; E P Henske
Journal:  Proc Natl Acad Sci U S A       Date:  2000-05-23       Impact factor: 11.205

4.  Evidence for population variation in TSC1 and TSC2 gene expression.

Authors:  Garilyn M Jentarra; Stephen G Rice; Shannon Olfers; David Saffen; Vinodh Narayanan
Journal:  BMC Med Genet       Date:  2011-02-23       Impact factor: 2.103

Review 5.  The neurobiology of the tuberous sclerosis complex.

Authors:  Leah Marcotte; Peter B Crino
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

Review 6.  Giant cells: contradiction to two-hit model of tuber formation?

Authors:  Jaroslaw Jozwiak; Sergiusz Jozwiak
Journal:  Cell Mol Neurobiol       Date:  2005-08       Impact factor: 5.046

7.  Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

Authors:  S L Dabora; S Jozwiak; D N Franz; P S Roberts; A Nieto; J Chung; Y S Choy; M P Reeve; E Thiele; J C Egelhoff; J Kasprzyk-Obara; D Domanska-Pakiela; D J Kwiatkowski
Journal:  Am J Hum Genet       Date:  2000-12-08       Impact factor: 11.025

Review 8.  Subependymal giant cell astrocytoma: current concepts, management, and future directions.

Authors:  Taohui Ouyang; Na Zhang; Thomas Benjamin; Long Wang; Jiantong Jiao; Yiqing Zhao; Jian Chen
Journal:  Childs Nerv Syst       Date:  2014-02-19       Impact factor: 1.475

9.  Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified.

Authors:  S E Camposano; E Greenberg; D J Kwiatkowski; E A Thiele
Journal:  Ann Hum Genet       Date:  2008-12-23       Impact factor: 1.670

10.  Impact of Ultra-Sensitive technology and contemporary therapy on laboratory results.

Authors:  S Narayanan
Journal:  Indian J Clin Biochem       Date:  2001-01
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