Literature DB >> 2882085

Evidence that the gene for tuberous sclerosis is on chromosome 9.

A E Fryer, A Chalmers, J M Connor, I Fraser, S Povey, A D Yates, J R Yates, J P Osborne.   

Abstract

Linkage analysis was undertaken in nineteen families with tuberous sclerosis by use of 26 polymorphic markers. All affected members fulfilled strict diagnostic criteria and unaffected members were rigorously investigated to confirm their status. Maximum lod scores were 1.20 for adenylate kinase 1 (AK1) at zero recombination and 3.85 for the ABO blood group at zero recombination (confidence limits 0-0.10). These findings support the assignment of the gene for tuberous sclerosis to the distal long arm of chromosome 9.

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Year:  1987        PMID： 2882085     DOI： 10.1016/s0140-6736(87)90416-8

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


  65 in total

1.  Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.

Authors:  M van Slegtenhorst; S Verhoef; A Tempelaars; L Bakker; Q Wang; M Wessels; R Bakker; M Nellist; D Lindhout; D Halley; A van den Ouweland
Journal:  J Med Genet       Date:  1999-04       Impact factor: 6.318

2.  Neuropathologic findings in surgically treated hemimegalencephaly: immunohistochemical, morphometric, and ultrastructural study.

Authors:  M J De Rosa; D L Secor; M Barsom; R S Fisher; H V Vinters
Journal:  Acta Neuropathol       Date:  1992       Impact factor: 17.088

3.  Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.

Authors:  H Northrup; D J Kwiatkowski; E S Roach; W B Dobyns; R A Lewis; G E Herman; E Rodriguez; S P Daiger; S H Blanton
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025

4.  Computer simulation of linkage and heterogeneity in tuberous sclerosis: a critical evaluation of the collaborative family data.

Authors:  L A Janssen; L A Sandkuijl; J R Sampson; D J Halley
Journal:  J Med Genet       Date:  1992-12       Impact factor: 6.318

5.  New research in tuberous sclerosis.

Authors:  D W Webb; J P Osborne
Journal:  BMJ       Date:  1992-06-27

6.  Genetic heterogeneity in tuberous sclerosis: phenotypic correlations.

Authors:  I M Winship; J M Connor; P H Beighton
Journal:  J Med Genet       Date:  1990-07       Impact factor: 6.318

Review 7.  Neurological manifestations of tuberous sclerosis complex.

Authors:  P Curatolo
Journal:  Childs Nerv Syst       Date:  1996-09       Impact factor: 1.475

8.  Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.

Authors:  J B Ali; T Sepp; S Ward; A J Green; J R Yates
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

9.  Expression and differential splicing of the mouse TSC2 homolog.

Authors:  P G Olsson; J N Schofield; Y H Edwards; A M Frischauf
Journal:  Mamm Genome       Date:  1996-03       Impact factor: 2.957

10.  Report of a critical recombination further narrowing the TSC1 region.

Authors:  K S Au; J Murrell; A Buckler; S H Blanton; H Northrup
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318
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