Literature DB >> 22081583

Estimating the annual number of false negative cystic fibrosis newborn screening tests.

Adam Fritz, Philip Farrell.   

Abstract

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Year:  2011        PMID： 22081583     DOI： 10.1002/ppul.21561

Source DB:  PubMed          Journal:  Pediatr Pulmonol        ISSN： 1099-0496


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  8 in total

1.  Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.

Authors:  Agnieszka Sobczyńska-Tomaszewska; Mariusz Ołtarzewski; Kamila Czerska; Katarzyna Wertheim-Tysarowska; Dorota Sands; Jarosław Walkowiak; Jerzy Bal; Tadeusz Mazurczak
Journal:  Eur J Hum Genet       Date:  2012-08-15       Impact factor: 4.246

2.  New challenges in the diagnosis and management of cystic fibrosis.

Authors:  Hara Levy; Philip M Farrell
Journal:  J Pediatr       Date:  2015-06       Impact factor: 4.406

3.  Evaluating Harms in the Assessment of Net Benefit: A Framework for Newborn Screening Condition Review.

Authors:  Aaron J Goldenberg; Anne Marie Comeau; Scott D Grosse; Susan Tanksley; Lisa A Prosser; Jelili Ojodu; Jeffrey R Botkin; Alex R Kemper; Nancy S Green
Journal:  Matern Child Health J       Date:  2016-03

Review 4.  False negative newborn screen and neonatal cholestasis in a premature child with cystic fibrosis.

Authors:  J F Heidendael; M M Tabbers; I De Vreede
Journal:  Eur J Pediatr       Date:  2013-08-15       Impact factor: 3.183

5.  Newborn Screening Saves Lives but Cannot Replace the Need for Clinical Vigilance.

Authors:  F Neemuchwala; M Taki; E Secord; S Z Nasr
Journal:  Case Rep Pediatr       Date:  2018-07-02

6.  Impact of newborn screening for cystic fibrosis on clinical outcomes of pediatric patients: 10 years' experience in Lodz Voivodship.

Authors:  M Olszowiec-Chlebna; E Mospinek; J Jerzynska
Journal:  Ital J Pediatr       Date:  2021-04-09       Impact factor: 2.638

7.  ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Authors:  Robert C Green; Jonathan S Berg; Wayne W Grody; Sarah S Kalia; Bruce R Korf; Christa L Martin; Amy L McGuire; Robert L Nussbaum; Julianne M O'Daniel; Kelly E Ormond; Heidi L Rehm; Michael S Watson; Marc S Williams; Leslie G Biesecker
Journal:  Genet Med       Date:  2013-06-20       Impact factor: 8.822

8.  Five cases of missed cystic fibrosis heterozygous mutations identified after a positive newborn screen on a sibling.

Authors:  Khaleel Qussous; Ibrahim Abdulhamid; Mary Kleyn; John Schuen; Samya Z Nasr
Journal:  Respir Med Case Rep       Date:  2022-01-01
  8 in total

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