Literature DB >> 10205080

Tuberous sclerosis.

F J O'Callaghan.   

Abstract

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Year:  1999        PMID: 10205080      PMCID: PMC1115432          DOI: 10.1136/bmj.318.7190.1019

Source DB:  PubMed          Journal:  BMJ        ISSN: 0959-8138


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  12 in total

1.  Genetic aspects of tuberous sclerosis in the west of Scotland.

Authors:  J R Sampson; S J Scahill; J B Stephenson; L Mann; J M Connor
Journal:  J Med Genet       Date:  1989-01       Impact factor: 6.318

2.  The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.

Authors:  M M Maheshwar; J P Cheadle; A C Jones; J Myring; A E Fryer; P C Harris; J R Sampson
Journal:  Hum Mol Genet       Date:  1997-10       Impact factor: 6.150

3.  Transgenic rescue from embryonic lethality and renal carcinogenesis in the Eker rat model by introduction of a wild-type Tsc2 gene.

Authors:  T Kobayashi; H Mitani; R Takahashi; M Hirabayashi; M Ueda; H Tamura; O Hino
Journal:  Proc Natl Acad Sci U S A       Date:  1997-04-15       Impact factor: 11.205

4.  Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

Authors:  M van Slegtenhorst; R de Hoogt; C Hermans; M Nellist; B Janssen; S Verhoef; D Lindhout; A van den Ouweland; D Halley; J Young; M Burley; S Jeremiah; K Woodward; J Nahmias; M Fox; R Ekong; J Osborne; J Wolfe; S Povey; R G Snell; J P Cheadle; A C Jones; M Tachataki; D Ravine; J R Sampson; M P Reeve; P Richardson; F Wilmer; C Munro; T L Hawkins; T Sepp; J B Ali; S Ward; A J Green; J R Yates; J Kwiatkowska; E P Henske; M P Short; J H Haines; S Jozwiak; D J Kwiatkowski
Journal:  Science       Date:  1997-08-08       Impact factor: 47.728

5.  The evolution of renal angiomyolipomas in patients with tuberous sclerosis.

Authors:  J G van Baal; N J Smits; J N Keeman; D Lindhout; S Verhoef
Journal:  J Urol       Date:  1994-07       Impact factor: 7.450

6.  Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients.

Authors:  A J Green; M Smith; J R Yates
Journal:  Nat Genet       Date:  1994-02       Impact factor: 38.330

7.  Mutation and cancer: statistical study of retinoblastoma.

Authors:  A G Knudson
Journal:  Proc Natl Acad Sci U S A       Date:  1971-04       Impact factor: 11.205

8.  The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor.

Authors:  A J Green; P H Johnson; J R Yates
Journal:  Hum Mol Genet       Date:  1994-10       Impact factor: 6.150

9.  Identification and characterization of the tuberous sclerosis gene on chromosome 16.

Authors: 
Journal:  Cell       Date:  1993-12-31       Impact factor: 41.582

10.  Morbidity associated with tuberous sclerosis: a population study.

Authors:  D W Webb; A E Fryer; J P Osborne
Journal:  Dev Med Child Neurol       Date:  1996-02       Impact factor: 5.449

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  7 in total

1.  Tuberous sclerosis complex: imaging findings.

Authors:  Pankaj Gupta; Amar Mukund; Chandrashekhara S H; Arun Kumar Gupta
Journal:  Indian J Pediatr       Date:  2011-06-10       Impact factor: 1.967

2.  Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing.

Authors:  Matthew B Lanktree; Amirreza Haghighi; Elsa Guiard; Ioan-Andrei Iliuta; Xuewen Song; Peter C Harris; Andrew D Paterson; York Pei
Journal:  J Am Soc Nephrol       Date:  2018-08-22       Impact factor: 10.121

3.  The psychopathologies of children and adolescents with tuberous sclerosis complex (TSC): a postal survey of UK families.

Authors:  Petrus J de Vries; Ann Hunt; Patrick F Bolton
Journal:  Eur Child Adolesc Psychiatry       Date:  2007-01-31       Impact factor: 4.785

4.  Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant.

Authors:  Martin W Laass; Miriam Spiegel; Anna Jauch; Gabriele Hahn; Edgar Rupprecht; Christian Vogelberg; Oliver Bartsch; Angela Huebner
Journal:  Pediatr Nephrol       Date:  2004-03-09       Impact factor: 3.714

Review 5.  Genomics and autism spectrum disorder.

Authors:  Norah L Johnson; Ellen Giarelli; Celine Lewis; Catherine E Rice
Journal:  J Nurs Scholarsh       Date:  2013-01-31       Impact factor: 3.176

6.  Tuberous sclerosis complex: everything old is new again.

Authors:  Kevin C Ess
Journal:  J Neurodev Disord       Date:  2009-05-06       Impact factor: 4.025

7.  Clinical patterns and outcomes of status epilepticus in patients with tuberous sclerosis complex.

Authors:  Hatem S Shehata; Hadeer Mahmoud AbdelGhaffar; Mohammed Nasreldin; Alaa Elmazny; Ahmed Abdelalim; Asmaa Sabbah; Nevin M Shalaby
Journal:  Ther Clin Risk Manag       Date:  2017-06-30       Impact factor: 2.423

  7 in total

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