Literature DB >> 31287558

A diagnostic algorithm for enhanced detection of mosaic tuberous sclerosis complex in adults.

A M Treichel1,2, D J Kwiatkowski3, J Moss2, T N Darling1.   

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Year:  2019        PMID： 31287558      PMCID： PMC6940510          DOI： 10.1111/bjd.18332

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   11.113


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  8 in total

1.  Tuberous sclerosis complex without tubers and subependymal nodules: a phenotype-genotype study.

Authors:  S Boronat; E A Shaaya; C M Doherty; P Caruso; E A Thiele
Journal:  Clin Genet       Date:  2013-08-27       Impact factor: 4.438

2.  Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference.

Authors:  Hope Northrup; Darcy A Krueger
Journal:  Pediatr Neurol       Date:  2013-10       Impact factor: 3.372

3.  A diagnostic and management algorithm for individuals with an isolated skin finding suggestive of tuberous sclerosis complex.

Authors:  N Nathan; K Burke; J Moss; T N Darling
Journal:  Br J Dermatol       Date:  2016-10-18       Impact factor: 9.302

4.  Dermatologic and dental aspects of the 2012 International Tuberous Sclerosis Complex Consensus Statements.

Authors:  Joyce M C Teng; Edward W Cowen; Mari Wataya-Kaneda; Elizabeth S Gosnell; Patricia M Witman; Adelaide A Hebert; Greg Mlynarczyk; Keyoumars Soltani; Thomas N Darling
Journal:  JAMA Dermatol       Date:  2014-10       Impact factor: 10.282

5.  Recognition of tuberous sclerosis in adult women: delayed presentation with life-threatening consequences.

Authors:  Diane Seibert; Chien-Hui Hong; Fumiko Takeuchi; Cara Olsen; Olonda Hathaway; Joel Moss; Thomas N Darling
Journal:  Ann Intern Med       Date:  2011-06-21       Impact factor: 25.391

6.  Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.

Authors:  Magdalena E Tyburczy; Ji-An Wang; Shaowei Li; Rajesh Thangapazham; Yvonne Chekaluk; Joel Moss; David J Kwiatkowski; Thomas N Darling
Journal:  Hum Mol Genet       Date:  2013-11-23       Impact factor: 6.150

7.  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

8.  Phenotypic distinctions between mosaic forms of tuberous sclerosis complex.

Authors:  Alison M Treichel; Lana Hamieh; Neera R Nathan; Magdalena E Tyburczy; Ji-An Wang; Oyetewa Oyerinde; Sorana Raiciulescu; Patricia Julien-Williams; Amanda M Jones; Vissaagan Gopalakrishnan; Joel Moss; David J Kwiatkowski; Thomas N Darling
Journal:  Genet Med       Date:  2019-05-22       Impact factor: 8.822
  8 in total
  3 in total

1.  TSC1 and TSC2 Genotype in Tuberous Sclerosis Complex: Are Other Manifestations of this Multisystem Disease Affected by Genotype?

Authors:  Thomas N Darling; Elizabeth A Thiele; Joel Moss
Journal:  Ann Am Thorac Soc       Date:  2021-05

2.  TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.

Authors:  Barbara Ogórek; Lana Hamieh; Hanna M Hulshof; Kathryn Lasseter; Katarzyna Klonowska; Hugo Kuijf; Romina Moavero; Christoph Hertzberg; Bernhard Weschke; Kate Riney; Martha Feucht; Theresa Scholl; Pavel Krsek; Rima Nabbout; Anna C Jansen; Barbora Benova; Eleonora Aronica; Lieven Lagae; Paolo Curatolo; Julita Borkowska; Krzysztof Sadowski; Dorota Domańska-Pakieła; Stef Janson; Piotr Kozlowski; Malgorzata Urbanska; Jacek Jaworski; Sergiusz Jozwiak; Floor E Jansen; Katarzyna Kotulska; David J Kwiatkowski
Journal:  Genet Med       Date:  2020-05-28       Impact factor: 8.822

3.  Low-level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways.

Authors:  Héctor Hugo Manzanilla-Romero; Denisa Weis; Simon Schnaiter; Sabine Rudnik-Schöneborn
Journal:  Am J Med Genet A       Date:  2021-07-30       Impact factor: 2.578
  3 in total

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