Literature DB >> 20304942

Towards routine screening of rare genetic diseases: the example of chronic granulomatous disease.

Marie José Stasia1.   

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Year:  2010        PMID: 20304942      PMCID: PMC2860460          DOI: 10.2353/jmoldx.2010.100004

Source DB:  PubMed          Journal:  J Mol Diagn        ISSN: 1525-1578            Impact factor:   5.568


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  17 in total

1.  Hematologically important mutations: X-linked chronic granulomatous disease (second update).

Authors:  P G Heyworth; J T Curnutte; J Rae; D Noack; D Roos; E van Koppen; A R Cross
Journal:  Blood Cells Mol Dis       Date:  2001 Jan-Feb       Impact factor: 3.039

2.  Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease.

Authors:  J Roesler; J T Curnutte; J Rae; D Barrett; P Patino; S J Chanock; A Goerlach
Journal:  Blood       Date:  2000-03-15       Impact factor: 22.113

3.  Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location.

Authors:  B Royer-Pokora; L M Kunkel; A P Monaco; S C Goff; P E Newburger; R L Baehner; F S Cole; J T Curnutte; S H Orkin
Journal:  Nature       Date:  1986 Jul 3-9       Impact factor: 49.962

4.  Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease.

Authors:  M C Dinauer; E A Pierce; G A Bruns; J T Curnutte; S H Orkin
Journal:  J Clin Invest       Date:  1990-11       Impact factor: 14.808

5.  Gene-scan method for the recognition of carriers and patients with p47(phox)-deficient autosomal recessive chronic granulomatous disease.

Authors:  J Dekker; M de Boer; D Roos
Journal:  Exp Hematol       Date:  2001-11       Impact factor: 3.084

6.  Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat.

Authors:  C M Casimir; H N Bu-Ghanim; A R Rodaway; D L Bentley; P Rowe; A W Segal
Journal:  Proc Natl Acad Sci U S A       Date:  1991-04-01       Impact factor: 11.205

7.  Cloning of a 67-kD neutrophil oxidase factor with similarity to a noncatalytic region of p60c-src.

Authors:  T L Leto; K J Lomax; B D Volpp; H Nunoi; J M Sechler; W M Nauseef; R A Clark; J I Gallin; H L Malech
Journal:  Science       Date:  1990-05-11       Impact factor: 47.728

8.  Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation.

Authors:  D R Ambruso; C Knall; A N Abell; J Panepinto; A Kurkchubasche; G Thurman; C Gonzalez-Aller; A Hiester; M deBoer; R J Harbeck; R Oyer; G L Johnson; D Roos
Journal:  Proc Natl Acad Sci U S A       Date:  2000-04-25       Impact factor: 11.205

9.  Cloning of the cDNA and functional expression of the 47-kilodalton cytosolic component of human neutrophil respiratory burst oxidase.

Authors:  B D Volpp; W M Nauseef; J E Donelson; D R Moser; R A Clark
Journal:  Proc Natl Acad Sci U S A       Date:  1989-09       Impact factor: 11.205

10.  Absence of cytochrome b-245 in chronic granulomatous disease. A multicenter European evaluation of its incidence and relevance.

Authors:  A W Segal; A R Cross; R C Garcia; N Borregaard; N H Valerius; J F Soothill; O T Jones
Journal:  N Engl J Med       Date:  1983-02-03       Impact factor: 91.245

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