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Literature DB >> 3118028

Von Recklinghausen neurofibromatosis: a linkage study of candidate and random marker genes.

R E Ferrell¹, K H Buetow, J K Darby, J E Eichner, J C Murray, R Smith, M Waziri, S Huson, V M Riccardi.

Abstract

Genotyping, using plasma proteins or DNA polymorphisms or both, was carried out on 30 families selected through probands with Von Recklinghausen disease. The data provide additional evidence for the exclusion of loci on chromosomes 3 and 5, and chromosome arms 1q, 2p, 4p, 4q, 6q, 7p, 9q, 11p, 11q, and 14q. There was no evidence for genetic heterogeneity at D1S1 (DNF15S2) on chromosome arm 3p, using the Morton test for heterogeneity.

Entities: Disease Gene

Mesh：

Substances：

Year: 1987 PMID： 3118028 PMCID： PMC1050255 DOI： 10.1136/jmg.24.9.522

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

12 in total

1. Von Recklinghausen neurofibromatosis and genetic linkage studies: clinical considerations.

Authors: V M Riccardi; J C Carey
Journal: J Med Genet Date: 1987-09 Impact factor: 6.318

2. Genetic studies of low abundance human plasma proteins. II. Population genetics of coagulation factor XIIIB.

Authors: M I Kamboh; R E Ferrell
Journal: Am J Hum Genet Date: 1986-12 Impact factor: 11.025

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. RFLPs for transforming growth factor alpha (TGFA) gene at 2p13.

Authors: J C Murray; K H Buetow; G I Bell
Journal: Nucleic Acids Res Date: 1986-09-11 Impact factor: 16.971

5. Human epidermal growth factor receptor cDNA sequence and aberrant expression of the amplified gene in A431 epidermoid carcinoma cells.

Authors: A Ullrich; L Coussens; J S Hayflick; T J Dull; A Gray; A W Tam; J Lee; Y Yarden; T A Libermann; J Schlessinger
Journal: Nature Date: 1984 May 31-Jun 6 Impact factor: 49.962

Von Recklinghausen neurofibromatosis: a linkage study of candidate and random marker genes.

1. Von Recklinghausen neurofibromatosis and genetic linkage studies: clinical considerations.

2. Genetic studies of low abundance human plasma proteins. II. Population genetics of coagulation factor XIIIB.

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

4. RFLPs for transforming growth factor alpha (TGFA) gene at 2p13.

5. Human epidermal growth factor receptor cDNA sequence and aberrant expression of the amplified gene in A431 epidermoid carcinoma cells.

6. Characterization of an unusual DNA length polymorphism 5' to the human antithrombin III gene.

7. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.

8. Parentage testing using the serum protein plasminogen (PLG).

9. Genetic polymorphism of alpha 2HS-glycoprotein.

10. Primary structure and expression of a functional human glucocorticoid receptor cDNA.

1. An exclusion map for Von Recklinghausen neurofibromatosis.