Literature DB >> 1670678

Abnormal frequency of delta F508 mutation in neonatal transitory hypertrypsinaemia.

D Laroche, G Travert.   

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Year:  1991        PMID： 1670678     DOI： 10.1016/0140-6736(91)93377-l

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


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  9 in total

1.  CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test.

Authors:  C Castellani; A Bonizzato; G Mastella
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

2.  Update and Review: Cystic Fibrosis.

Authors:  T Brown; E L Schwind
Journal:  J Genet Couns       Date:  1999-06       Impact factor: 2.537

3.  Indirect measurements of sweat electrolyte concentration in the laboratory diagnosis of cystic fibrosis.

Authors:  M E Heeley; D A Woolf; A F Heeley
Journal:  Arch Dis Child       Date:  2000-05       Impact factor: 3.791

4.  Clinical and environmental influences on metabolic biomarkers collected for newborn screening.

Authors:  Kelli K Ryckman; Stanton L Berberich; Oleg A Shchelochkov; Daniel E Cook; Jeffrey C Murray
Journal:  Clin Biochem       Date:  2012-09-23       Impact factor: 3.281

5.  Application of DNA analysis in a population-screening program for neonatal diagnosis of cystic fibrosis (CF): comparison of screening protocols.

Authors:  R G Gregg; B S Wilfond; P M Farrell; A Laxova; D Hassemer; E H Mischler
Journal:  Am J Hum Genet       Date:  1993-03       Impact factor: 11.025

Review 6.  Newborn screening for cystic fibrosis.

Authors:  Jack K Sharp; Michael J Rock
Journal:  Clin Rev Allergy Immunol       Date:  2008-12       Impact factor: 8.667

7.  Neonatal screening for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis: four years' experience.

Authors:  E Ranieri; B D Lewis; R L Gerace; R G Ryall; C P Morris; P V Nelson; W F Carey; E F Robertson
Journal:  BMJ       Date:  1994-06-04

Review 8.  History of Newborn Screening for Cystic Fibrosis-The Early Years.

Authors:  Georges Travert; Mary Heeley; Anthony Heeley
Journal:  Int J Neonatal Screen       Date:  2020-01-31

9.  Screening for cystic fibrosis in New York State: considerations for algorithm improvements.

Authors:  Denise M Kay; Breanne Maloney; Rhonda Hamel; Melissa Pearce; Lenore DeMartino; Rebecca McMahon; Emily McGrath; Lea Krein; Beth Vogel; Carlos A Saavedra-Matiz; Michele Caggana; Norma P Tavakoli
Journal:  Eur J Pediatr       Date:  2015-08-21       Impact factor: 3.183
  9 in total

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