Literature DB >> 11403047

A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex.

L Khare, G D Strizheva, J N Bailey, K S Au, H Northrup, M Smith, S L Smalley, E P Henske.   

Abstract

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Year:  2001        PMID： 11403047      PMCID： PMC1734876          DOI： 10.1136/jmg.38.5.347

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


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  14 in total

Review 1.  Hereditary genodermatoses with cancer predisposition.

Authors:  Meg R Gerstenblith; Alisa M Goldstein; Margaret A Tucker
Journal:  Hematol Oncol Clin North Am       Date:  2010-10       Impact factor: 3.722

2.  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

3.  Tuberous Sclerosis Complex Genotypes and Developmental Phenotype.

Authors:  Laura S Farach; Deborah A Pearson; John P Woodhouse; Jeremy M Schraw; Mustafa Sahin; Darcy A Krueger; Joyce Y Wu; Elizabeth M Bebin; Philip J Lupo; Kit Sing Au; Hope Northrup
Journal:  Pediatr Neurol       Date:  2019-03-13       Impact factor: 3.372

4.  Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features.

Authors:  Elizabeth Yuan; Peter T Tsai; Emily Greene-Colozzi; Mustafa Sahin; David J Kwiatkowski; Izabela A Malinowska
Journal:  Hum Mol Genet       Date:  2012-06-29       Impact factor: 6.150

5.  A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles.

Authors:  Kristen Pollizzi; Izabela Malinowska-Kolodziej; Cheryl Doughty; Charles Betz; Jian Ma; June Goto; David J Kwiatkowski
Journal:  Hum Mol Genet       Date:  2009-04-08       Impact factor: 6.150

6.  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

7.  Genetic linkage of attention-deficit/hyperactivity disorder on chromosome 16p13, in a region implicated in autism.

Authors:  Susan L Smalley; Vlad Kustanovich; Sonia L Minassian; Jennifer L Stone; Matthew N Ogdie; James J McGough; James T McCracken; I Laurence MacPhie; Clyde Francks; Simon E Fisher; Rita M Cantor; Anthony P Monaco; Stanley F Nelson
Journal:  Am J Hum Genet       Date:  2002-08-14       Impact factor: 11.025

8.  Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.

Authors:  Cédric Le Caignec; David J Kwiatkowski; Sébastien Küry; Jean-Benoit Hardouin; Judith Melki; Albert David
Journal:  Eur J Hum Genet       Date:  2009-03-04       Impact factor: 4.246

Review 9.  The neural crest lineage as a driver of disease heterogeneity in Tuberous Sclerosis Complex and Lymphangioleiomyomatosis.

Authors:  Sean P Delaney; Lisa M Julian; William L Stanford
Journal:  Front Cell Dev Biol       Date:  2014-11-25

10.  Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.

Authors:  Rosemary Ekong; Mark Nellist; Marianne Hoogeveen-Westerveld; Marjolein Wentink; Jessica Panzer; Steven Sparagana; Warren Emmett; Natalie L Dawson; Marie Claire Malinge; Rima Nabbout; Caterina Carbonara; Marco Barberis; Sergio Padovan; Marta Futema; Vincent Plagnol; Steve E Humphries; Nicola Migone; Sue Povey
Journal:  Hum Mutat       Date:  2016-01-12       Impact factor: 4.878
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