Literature DB >> 15121797

Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis.

P S Roberts1, S Dabora, E A Thiele, D N Franz, S Jozwiak, D J Kwiatkowski.   

Abstract

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Year:  2004        PMID： 15121797      PMCID： PMC1735761          DOI： 10.1136/jmg.2003.014126

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  7 in total

1.  Clinical utility gene card for: tuberous sclerosis complex (TSC1, TSC2).

Authors:  Karin Mayer; Christa Fonatsch; Katharina Wimmer; Ans M W van den Ouweland; Anneke J A Maat-Kievit
Journal:  Eur J Hum Genet       Date:  2013-06-12       Impact factor: 4.246

2.  Rapid symptomatic and structural improvement of a retinal astrocytic hamartoma in response to anti-VEGF therapy: A case report.

Authors:  Kevin C Allan; Hong-Uyen Hua; Arun D Singh; Alex Yuan
Journal:  Am J Ophthalmol Case Rep       Date:  2022-06-01

Review 3.  A circuitry and biochemical basis for tuberous sclerosis symptoms: from epilepsy to neurocognitive deficits.

Authors:  David M Feliciano; Tiffany V Lin; Nathaniel W Hartman; Christopher M Bartley; Cathryn Kubera; Lawrence Hsieh; Carlos Lafourcade; Rachel A O'Keefe; Angelique Bordey
Journal:  Int J Dev Neurosci       Date:  2013-02-26       Impact factor: 2.457

4.  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

5.  TSC2 rare germline variants in non-tuberous sclerosis patients with neuroendocrine neoplasias.

Authors:  Paula Fontes Asprino; Rudinei Diogo Marques Linck; Jônatas Cesar; Florêncio Porto Freitas; Fernanda Christtanini Koyama; Rachel Simões Pimenta Riechelmann; Frederico Perego Costa; Paulo Marcelo Gehm Hoff; Pedro Alexandre Favoretto Galante; Diogo Meyer; Anamaria Aranha Camargo; Jorge Sabbaga
Journal:  Endocr Relat Cancer       Date:  2017-11-22       Impact factor: 5.678

6.  Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.

Authors:  Magdalena E Tyburczy; Kira A Dies; Jennifer Glass; Susana Camposano; Yvonne Chekaluk; Aaron R Thorner; Ling Lin; Darcy Krueger; David N Franz; Elizabeth A Thiele; Mustafa Sahin; David J Kwiatkowski
Journal:  PLoS Genet       Date:  2015-11-05       Impact factor: 5.917

7.  Durable response to anti-PD-1 immunotherapy in epithelioid angiomyolipoma: a report on the successful treatment of a rare malignancy.

Authors:  Michael Lattanzi; Fang-Ming Deng; Luis A Chiriboga; Alisa N Femia; Shane A Meehan; Gopa Iyer; Martin H Voss; Yuliya Sundatova; William C Huang; Arjun V Balar
Journal:  J Immunother Cancer       Date:  2018-10-01       Impact factor: 13.751
  7 in total

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