Literature DB >> 23756443

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

Karin Mayer1, Christa Fonatsch2, Katharina Wimmer3, Ans M W van den Ouweland4, Anneke J A Maat-Kievit4.   

Abstract

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Year:  2013        PMID： 23756443      PMCID： PMC3895647          DOI： 10.1038/ejhg.2013.129

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  21 in total

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

Authors:  P S Roberts; S Dabora; E A Thiele; D N Franz; S Jozwiak; D J Kwiatkowski
Journal:  J Med Genet       Date:  2004-05       Impact factor: 6.318

2.  Biallelic TSC gene inactivation in tuberous sclerosis complex.

Authors:  Peter B Crino; Eleonora Aronica; Gordon Baltuch; Katherine L Nathanson
Journal:  Neurology       Date:  2010-05-25       Impact factor: 9.910

3.  The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management.

Authors:  John R W Yates; Cathy Maclean; J Nicholas P Higgins; Ayla Humphrey; Kate le Maréchal; Michelle Clifford; Iris Carcani-Rathwell; Julian R Sampson; Patrick F Bolton
Journal:  Arch Dis Child       Date:  2011-08-03       Impact factor: 3.791

4.  Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects.

Authors:  K Mayer; W Ballhausen; H D Rott
Journal:  Hum Mutat       Date:  1999       Impact factor: 4.878

5.  Genotype and cognitive phenotype of patients with tuberous sclerosis complex.

Authors:  Agnies M van Eeghen; Margaux E Black; Margaret B Pulsifer; David J Kwiatkowski; Elizabeth A Thiele
Journal:  Eur J Hum Genet       Date:  2011-12-21       Impact factor: 4.246

6.  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 7.  Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations.

Authors:  Paolo Curatolo; Sergiusz Jóźwiak; Rima Nabbout
Journal:  Eur J Paediatr Neurol       Date:  2012-06-12       Impact factor: 3.140

8.  Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial.

Authors:  David Neal Franz; Elena Belousova; Steven Sparagana; E Martina Bebin; Michael Frost; Rachel Kuperman; Olaf Witt; Michael H Kohrman; J Robert Flamini; Joyce Y Wu; Paolo Curatolo; Petrus J de Vries; Vicky H Whittemore; Elizabeth A Thiele; James P Ford; Gaurav Shah; Helene Cauwel; David Lebwohl; Tarek Sahmoud; Sergiusz Jozwiak
Journal:  Lancet       Date:  2012-11-14       Impact factor: 79.321

9.  Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial.

Authors:  John J Bissler; J Christopher Kingswood; Elżbieta Radzikowska; Bernard A Zonnenberg; Michael Frost; Elena Belousova; Matthias Sauter; Norio Nonomura; Susanne Brakemeier; Petrus J de Vries; Vicky H Whittemore; David Chen; Tarek Sahmoud; Gaurav Shah; Jeremie Lincy; David Lebwohl; Klemens Budde
Journal:  Lancet       Date:  2013-03-09       Impact factor: 79.321

10.  Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.

Authors:  Agnies M van Eeghen; Mark Nellist; Elmer E van Eeghen; Elizabeth A Thiele
Journal:  Epilepsy Res       Date:  2012-08-03       Impact factor: 3.045
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