Literature DB >> 14602687

Cystic fibrosis newborn screening and detection of carriers.

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Year:  2003        PMID： 14602687      PMCID： PMC1763246          DOI： 10.1136/fn.88.6.f448

Source DB:  PubMed          Journal:  Arch Dis Child Fetal Neonatal Ed        ISSN： 1359-2998            Impact factor:   5.747


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  7 in total

1.  Blood immunoreactive trypsinogen concentrations are genetically determined in healthy and cystic fibrosis newborns.

Authors:  I Lecoq; J Brouard; D Laroche; C Férec; G Travert
Journal:  Acta Paediatr       Date:  1999-03       Impact factor: 2.299

2.  Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis.

Authors:  V Scotet; M De Braekeleer; M P Audrézet; L Lodé; C Verlingue; I Quéré; B Mercier; I Duguépéroux; J P Codet; M P Moineau; P Parent; C Férec
Journal:  Clin Genet       Date:  2001-01       Impact factor: 4.438

3.  The CF carrier status is not associated with a diminished self-concept or increased anxiety: results of psychometric testing after at least 1 year.

Authors:  L Denayer; M Welkenhuysen; G Evers-Kiebooms; J J Cassiman; H Van den Berghe
Journal:  Clin Genet       Date:  1996-05       Impact factor: 4.438

4.  Cystic fibrosis mutation analysis: report from 22 U.K. regional genetics laboratories.

Authors:  M J Schwarz; G M Malone; A Haworth; J P Cheadle; A L Meredith; A Gardner; I H Sawyer; M Connarty; N Dennis; A Seller
Journal:  Hum Mutat       Date:  1995       Impact factor: 4.878

5.  Active cascade testing for carriers of cystic fibrosis gene.

Authors:  M Super; M J Schwarz; G Malone; T Roberts; A Haworth; G Dermody
Journal:  BMJ       Date:  1994-06-04

6.  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

7.  Genetic counseling after implementation of statewide cystic fibrosis newborn screening: Two years' experience in one medical center.

Authors:  P G Wheeler; R Smith; H Dorkin; R B Parad; A M Comeau; D W Bianchi
Journal:  Genet Med       Date:  2001 Nov-Dec       Impact factor: 8.822
  7 in total
  3 in total

Review 1.  Newborn screening for cystic fibrosis: the practical implications.

Authors:  Kevin W Southern
Journal:  J R Soc Med       Date:  2004       Impact factor: 5.344

Review 2.  Dornase alfa in Cystic Fibrosis: indications, comparative studies and effects on lung clearance index.

Authors:  Vito Terlizzi; Chiara Castellani; Giovanni Taccetti; Beatrice Ferrari
Journal:  Ital J Pediatr       Date:  2022-08-04       Impact factor: 3.288

3.  Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience.

Authors:  Chiara Bianchimani; Daniela Dolce; Claudia Centrone; Silvia Campana; Novella Ravenni; Tommaso Orioli; Erica Camera; Gianfranco Mergni; Cristina Fevola; Paolo Bonomi; Giovanni Taccetti; Vito Terlizzi
Journal:  Int J Neonatal Screen       Date:  2022-08-03
  3 in total

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