Literature DB >> 1848299

Inherited amyloidosis.

M D Benson1.   

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Year:  1991        PMID: 1848299      PMCID: PMC1016771          DOI: 10.1136/jmg.28.2.73

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


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  12 in total

1.  Familial primary amyloidosis with severe amyloid heart disease.

Authors:  T FREDERIKSEN; H GOTZSCHE; N HARBOE; W KIAER; K MELLEMGAARD
Journal:  Am J Med       Date:  1962-09       Impact factor: 4.965

2.  A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy.

Authors:  W C Nichols; R E Gregg; H B Brewer; M D Benson
Journal:  Genomics       Date:  1990-10       Impact factor: 5.736

3.  A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves.

Authors:  C ANDRADE
Journal:  Brain       Date:  1952-09       Impact factor: 13.501

4.  Hereditary amyloidosis: detection of variant prealbumin genes by restriction enzyme analysis of amplified genomic DNA sequences.

Authors:  W C Nichols; M D Benson
Journal:  Clin Genet       Date:  1990-01       Impact factor: 4.438

5.  Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome.

Authors:  J Meretoja
Journal:  Ann Clin Res       Date:  1969-12

6.  Plasma and cytoplasmic gelsolins are encoded by a single gene and contain a duplicated actin-binding domain.

Authors:  D J Kwiatkowski; T P Stossel; S H Orkin; J E Mole; H R Colten; H L Yin
Journal:  Nature       Date:  1986 Oct 2-8       Impact factor: 49.962

7.  Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline.

Authors:  C P Maury; K Alli; M Baumann
Journal:  FEBS Lett       Date:  1990-01-15       Impact factor: 4.124

8.  A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases.

Authors:  S Ueno; T Uemichi; S Yorifuji; S Tarui
Journal:  Biochem Biophys Res Commun       Date:  1990-05-31       Impact factor: 3.575

9.  A new mutation causing familial amyloidotic polyneuropathy.

Authors:  J C Skare; M J Saraiva; I L Alves; I B Skare; A Milunsky; A S Cohen; M Skinner
Journal:  Biochem Biophys Res Commun       Date:  1989-11-15       Impact factor: 3.575

10.  Variant apolipoprotein AI as a major constituent of a human hereditary amyloid.

Authors:  W C Nichols; F E Dwulet; J Liepnieks; M D Benson
Journal:  Biochem Biophys Res Commun       Date:  1988-10-31       Impact factor: 3.575

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  16 in total

1.  Long term results of heart transplantation in patients with amyloid heart disease.

Authors:  S W Dubrey; M M Burke; A Khaghani; P N Hawkins; M H Yacoub; N R Banner
Journal:  Heart       Date:  2001-02       Impact factor: 5.994

Review 2.  The Genetic Challenges and Opportunities in Advanced Heart Failure.

Authors:  Fady Hannah-Shmouni; Sara B Seidelmann; Sandra Sirrs; Arya Mani; Daniel Jacoby
Journal:  Can J Cardiol       Date:  2015-08-21       Impact factor: 5.223

Review 3.  Use of yeast as a model system to investigate protein conformational diseases.

Authors:  Christina M Coughlan; Jeffrey L Brodsky
Journal:  Mol Biotechnol       Date:  2005-06       Impact factor: 2.695

4.  Verification of the transthyretin Met 111 mutation in familial amyloid cardiomyopathy of Danish origin by DNA sequencing.

Authors:  B Y Nordvåg; H M Riise; G Husby
Journal:  Hum Genet       Date:  1994-04       Impact factor: 4.132

5.  Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107).

Authors:  T Uemichi; M A Gertz; M D Benson
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

6.  Molecular diagnosis of the transthyretin (TTR) Met111 mutation in familial amyloid cardiomyopathy of Danish origin.

Authors:  B Y Nordvåg; G Husby; I Ranløv; M R el-Gewely
Journal:  Hum Genet       Date:  1992-06       Impact factor: 4.132

7.  Retrospective molecular detection of Transthyretin Met 111 mutation in a Danish kindred with familial amyloid cardiomyopathy, using DNA from formalin-fixed and paraffin-embedded tissues.

Authors:  B Y Nordvåg; I Ranløv; H M Riise; G Husby; M R el-Gewely
Journal:  Hum Genet       Date:  1993-10-01       Impact factor: 4.132

8.  Exclusion of the gelsolin gene on 9q32-34 as the cause of familial lattice corneal dystrophy type I.

Authors:  A Wiens; S Marles; J Safneck; D J Kwiatkowski; C P Maury; T Zelinski; S Philipps; M B Ekins; C R Greenberg
Journal:  Am J Hum Genet       Date:  1992-07       Impact factor: 11.025

9.  A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy.

Authors:  T Uemichi; J R Murrell; S Zeldenrust; M D Benson
Journal:  J Med Genet       Date:  1992-12       Impact factor: 6.318

10.  Pulmonary vascular amyloidosis in aged dogs. A new form of spontaneously occurring amyloidosis derived from apolipoprotein AI.

Authors:  K H Johnson; K Sletten; D W Hayden; T D O'Brien; K E Roertgen; P Westermark
Journal:  Am J Pathol       Date:  1992-11       Impact factor: 4.307

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