Literature DB >> 8751878

Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease.

N Tayebi, S Cushner, E Sidransky.   

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Year:  1996        PMID： 8751878      PMCID： PMC1914901     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  8 in total

1.  Polymorphisms in the human glucocerebrosidase gene.

Authors:  E Beutler; C West; T Gelbart
Journal:  Genomics       Date:  1992-04       Impact factor: 5.736

2.  The molecular biology of Gaucher disease and the potential for gene therapy.

Authors:  P V Choudary; S Tsuji; B M Martin; B C Guild; R C Mulligan; G J Murray; J A Barranger; E I Ginns
Journal:  Cold Spring Harb Symp Quant Biol       Date:  1986

3.  The human glucocerebrosidase gene and pseudogene: structure and evolution.

Authors:  M Horowitz; S Wilder; Z Horowitz; O Reiner; T Gelbart; E Beutler
Journal:  Genomics       Date:  1989-01       Impact factor: 5.736

4.  Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations.

Authors:  H Ida; K Iwasawa; H Kawame; O M Rennert; K Maekawa; Y Eto
Journal:  Hum Genet       Date:  1995-06       Impact factor: 4.132

5.  Clinical heterogeneity among patients with Gaucher's disease.

Authors:  E Sidransky; E I Ginns
Journal:  JAMA       Date:  1993-03-03       Impact factor: 56.272

6.  Identification of six new Gaucher disease mutations.

Authors:  E Beutler; T Gelbart; C West
Journal:  Genomics       Date:  1993-01       Impact factor: 5.736

7.  Structure and organization of the human metaxin gene (MTX) and pseudogene.

Authors:  G L Long; S Winfield; K W Adolph; E I Ginns; P Bornstein
Journal:  Genomics       Date:  1996-04-15       Impact factor: 5.736

8.  A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder.

Authors:  A Zimran; J Sorge; E Gross; M Kubitz; C West; E Beutler
Journal:  J Clin Invest       Date:  1990-01       Impact factor: 14.808
  8 in total
  8 in total

1.  Type 2 Gaucher disease: the collodion baby phenotype revisited.

Authors:  D L Stone; W F Carey; J Christodoulou; D Sillence; P Nelson; M Callahan; N Tayebi; E Sidransky
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  2000-03       Impact factor: 5.747

2.  Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy.

Authors:  Sarah Michelman Lo; Jun Liu; F Chen; G M Pastores; J Knowles; M Boxer; Kirk Aleck; Pramod K Mistry
Journal:  J Inherit Metab Dis       Date:  2011-03-29       Impact factor: 4.982

3.  Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.

Authors:  V Koprivica; D L Stone; J K Park; M Callahan; A Frisch; I J Cohen; N Tayebi; E Sidransky
Journal:  Am J Hum Genet       Date:  2000-05-04       Impact factor: 11.025

4.  A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.

Authors:  Hamid Saranjam; Sameer S Chopra; Harvey Levy; Barbara K Stubblefield; Emerson Maniwang; Ian J Cohen; Hagit Baris; Ellen Sidransky; Nahid Tayebi
Journal:  Eur J Hum Genet       Date:  2012-06-20       Impact factor: 4.246

5.  Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease.

Authors:  Nahid Tayebi; Barbara K Stubblefield; Joseph K Park; Eduard Orvisky; Jamie M Walker; Mary E LaMarca; Ellen Sidransky
Journal:  Am J Hum Genet       Date:  2003-02-13       Impact factor: 11.025

6.  Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.

Authors:  D P Germain; J P Puech; C Caillaud; A Kahn; L Poenaru
Journal:  Am J Hum Genet       Date:  1998-08       Impact factor: 11.025

7.  Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).

Authors:  Justin T Brown; Cora Lahey; Walairat Laosinchai-Wolf; Andrew G Hadd
Journal:  BMC Med Genet       Date:  2006-08-03       Impact factor: 2.103

Review 8.  The relationship between glucocerebrosidase mutations and Parkinson disease.

Authors:  Anna Migdalska-Richards; Anthony H V Schapira
Journal:  J Neurochem       Date:  2016-02-10       Impact factor: 5.372
  8 in total

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