Literature DB >> 1970022

Screening for cystic fibrosis: use of delta F508 mutation.

F G Bowling, J J McGill, R W Shepherd, D M Danks.   

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Year:  1990        PMID： 1970022     DOI： 10.1016/0140-6736(90)90534-c

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  9 in total

1.  Frequency of delta F508 mutation and haplotype analysis in Austrian cystic fibrosis families.

Authors:  J Larsen; A Georghiou; F D Kury; M Götz; K Sanz; K Dobianer; J Spona
Journal:  Hum Genet       Date:  1992-06       Impact factor: 4.132

Review 2.  Neonatal screening--should we or shouldn't we?

Authors:  P H Weller; J V West
Journal:  J R Soc Med       Date:  1991       Impact factor: 5.344

Review 3.  The molecular revolution--coming your way soon.

Authors:  P Quirke
Journal:  Gut       Date:  1992-01       Impact factor: 23.059

Review 4.  Newborn blood spot screening: new opportunities, old problems.

Authors:  R J Pollitt
Journal:  J Inherit Metab Dis       Date:  2009-05-04       Impact factor: 4.982

5.  Non-specific elevation of immunoreactive trypsinogen in sick infants.

Authors:  D Ravine; R I Francis; D M Danks
Journal:  Eur J Pediatr       Date:  1993-04       Impact factor: 3.183

6.  The concept of abnormality in medical genetics.

Authors:  R Hoedemaekers; H ten Have
Journal:  Theor Med Bioeth       Date:  1999-12

7.  Elevated Mirc1/Mir17-92 cluster expression negatively regulates autophagy and CFTR (cystic fibrosis transmembrane conductance regulator) function in CF macrophages.

Authors:  Mia F Tazi; Duaa A Dakhlallah; Kyle Caution; Madelyn M Gerber; Sheng-Wei Chang; Hany Khalil; Benjamin T Kopp; Amr E Ahmed; Kathrin Krause; Ian Davis; Clay Marsh; Amy E Lovett-Racke; Larry S Schlesinger; Estelle Cormet-Boyaka; Amal O Amer
Journal:  Autophagy       Date:  2016-11       Impact factor: 16.016

8.  Cystic fibrosis screening in neonates--measurement of immunoreactive trypsin and direct genotype analysis for delta F508 mutation.

Authors:  J Larsen; S Campbell; E B Faragher; M Götz; I Eichler; S Waldherr; K Dobianer; J Spona
Journal:  Eur J Pediatr       Date:  1994-08       Impact factor: 3.183

9.  Cystic fibrosis identified by neonatal screening: incidence, genotype, and early natural history.

Authors:  M R Green; L T Weaver; A F Heeley; K Nicholson; J A Kuzemko; D E Barton; R McMahon; S J Payne; S Austin; J R Yates
Journal:  Arch Dis Child       Date:  1993-04       Impact factor: 3.791
  9 in total

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