Literature DB >> 2889832

Linkage of the tuberous sclerosis locus to a DNA polymorphism detected by v-abl.

J M Connor1, L A Pirrit, J R Yates, A E Fryer, M A Ferguson-Smith.   

Abstract

Linkage analysis was undertaken in six families with tuberous sclerosis (TS) using a restriction fragment length polymorphism detected by v-abl. No recombinants were observed in 13 informative meioses (four phase known) giving a maximum lod score of 3.18 at zero recombination (confidence limits 0 to 0.15). This provides further evidence for the assignment of TS to 9q34 and should facilitate cloning of the structural gene, genetic counselling, and first trimester prenatal diagnosis.

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Year:  1987        PMID： 2889832      PMCID： PMC1050265          DOI： 10.1136/jmg.24.9.544

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


  10 in total

1.  Characterization of mouse cellular deoxyribonucleic acid homologous to Abelson murine leukemia virus-specific sequences.

Authors:  B Dale; B Ozanne
Journal:  Mol Cell Biol       Date:  1981-08       Impact factor: 4.272

2.  Tuberous sclerosis: analysis of linkage to red cell and plasma protein markers.

Authors:  J M Connor; J R Yates; L Mann; D A Aitken; J B Stephenson
Journal:  Cytogenet Cell Genet       Date:  1987

3.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

4.  Report of the Committee on Methods of Linkage Analysis and Reporting.

Authors:  P M Conneally; J H Edwards; K K Kidd; J M Lalouel; N E Morton; J Ott; R White
Journal:  Cytogenet Cell Genet       Date:  1985

5.  Non-penetrance in tuberous sclerosis.

Authors:  J M Connor; J B Stephenson; M D Hadley
Journal:  Lancet       Date:  1986-11-29       Impact factor: 79.321

6.  Assignment of the gene for dyskeratosis congenita to Xq28.

Authors:  J M Connor; D Gatherer; F C Gray; L A Pirrit; N A Affara
Journal:  Hum Genet       Date:  1986-04       Impact factor: 4.132

7.  Translocation of c-ab1 oncogene correlates with the presence of a Philadelphia chromosome in chronic myelocytic leukaemia.

Authors:  C R Bartram; A de Klein; A Hagemeijer; T van Agthoven; A Geurts van Kessel; D Bootsma; G Grosveld; M A Ferguson-Smith; T Davies; M Stone
Journal:  Nature       Date:  1983 Nov 17-23       Impact factor: 49.962

8.  A cellular oncogene is translocated to the Philadelphia chromosome in chronic myelocytic leukaemia.

Authors:  A de Klein; A G van Kessel; G Grosveld; C R Bartram; A Hagemeijer; D Bootsma; N K Spurr; N Heisterkamp; J Groffen; J R Stephenson
Journal:  Nature       Date:  1982-12-23       Impact factor: 49.962

9.  Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34.

Authors:  M A Ferguson-Smith; D A Aitken; C Turleau; J de Grouchy
Journal:  Hum Genet       Date:  1976-09-10       Impact factor: 4.132

10.  Localization of the c-ab1 oncogene adjacent to a translocation break point in chronic myelocytic leukaemia.

Authors:  N Heisterkamp; J R Stephenson; J Groffen; P F Hansen; A de Klein; C R Bartram; G Grosveld
Journal:  Nature       Date:  1983 Nov 17-23       Impact factor: 49.962
  10 in total
  12 in total

1.  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

Review 2.  Diagnosis of tuberous sclerosis.

Authors:  J P Osborne
Journal:  Arch Dis Child       Date:  1988-12       Impact factor: 3.791

3.  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

4.  Evidence for genetic heterogeneity in tuberous sclerosis.

Authors:  J R Sampson; J R Yates; L A Pirrit; P Fleury; I Winship; P Beighton; J M Connor
Journal:  J Med Genet       Date:  1989-08       Impact factor: 6.318

5.  Unsuccessful attempt to detect genetic mutation in tuberous sclerosis utilizing the polymerase chain reaction.

Authors:  R Watanabe; M Ebihara; F Otsuka; K Onodera; Y Ishibashi
Journal:  Arch Dermatol Res       Date:  1993       Impact factor: 3.017

6.  A third gene locus for tuberous sclerosis is closely linked to the phenylalanine hydroxylase gene locus.

Authors:  R Fahsold; H D Rott; P Lorenz
Journal:  Hum Genet       Date:  1991-11       Impact factor: 4.132

Review 7.  Diagnostic approaches to renal genetic disorders using DNA analysis.

Authors:  C A Francomano
Journal:  Pediatr Nephrol       Date:  1992-01       Impact factor: 3.714

8.  Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, 11q, and 12q. The Tuberous Sclerosis Collaborative Group.

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

9.  Chromosome abnormalities in tuberous sclerosis.

Authors:  S Scappaticci; D Cerimele; M Tondi; R Vivarelli; A Fois; M Fraccaro
Journal:  Hum Genet       Date:  1988-06       Impact factor: 4.132

10.  Cardiac rhabdomyomata and megacystis-microcolon-intestinal hypoperistalsis syndrome.

Authors:  R T Couper; R W Byard; E Cutz; D A Stringer; P R Durie
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318
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