Literature DB >> 23992917

Carrier screening for cystic fibrosis in the new era of medications that restore CFTR function.

John Massie1, Carlo Castellani2, Wayne W Grody3.   

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Year:  2013        PMID: 23992917     DOI: 10.1016/S0140-6736(13)61092-2

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


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  5 in total

1.  "Suddenly Having two Positive People who are Carriers is a Whole New Thing" - Experiences of Couples Both Identified as Carriers of Cystic Fibrosis Through a Population-Based Carrier Screening Program in Australia.

Authors:  Liane Ioannou; Martin B Delatycki; John Massie; Jan Hodgson; Sharon Lewis
Journal:  J Genet Couns       Date:  2015-05-01       Impact factor: 2.537

2.  Attitudes Toward Discussing Approved and Investigational Treatments for Cystic Fibrosis in Prenatal Genetic Counseling Practice.

Authors:  Caroline Rung Elsas; Elinor Langfelder Schwind; Laura Hercher; Michael J Smith; Kara Gardner Young
Journal:  J Genet Couns       Date:  2016-06-09       Impact factor: 2.537

3.  Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.

Authors:  Fatima Djouadi; Florence Habarou; Carole Le Bachelier; Sacha Ferdinandusse; Dimitri Schlemmer; Jean François Benoist; Audrey Boutron; Brage S Andresen; Gepke Visser; Pascale de Lonlay; Simon Olpin; Toshiyuki Fukao; Seiji Yamaguchi; Arnold W Strauss; Ronald J A Wanders; Jean Bastin
Journal:  J Inherit Metab Dis       Date:  2015-06-25       Impact factor: 4.982

4.  Gq activity- and β-arrestin-1 scaffolding-mediated ADGRG2/CFTR coupling are required for male fertility.

Authors:  Dao-Lai Zhang; Yu-Jing Sun; Ming-Liang Ma; Yi-Jing Wang; Hui Lin; Rui-Rui Li; Zong-Lai Liang; Yuan Gao; Zhao Yang; Dong-Fang He; Amy Lin; Hui Mo; Yu-Jing Lu; Meng-Jing Li; Wei Kong; Ka Young Chung; Fan Yi; Jian-Yuan Li; Ying-Ying Qin; Jingxin Li; Alex R B Thomsen; Alem W Kahsai; Zi-Jiang Chen; Zhi-Gang Xu; Mingyao Liu; Dali Li; Xiao Yu; Jin-Peng Sun
Journal:  Elife       Date:  2018-02-02       Impact factor: 8.140

5.  Pre- and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists' views.

Authors:  Sandra Janssens; Davit Chokoshvili; Danya F Vears; Anne De Paepe; Pascal Borry
Journal:  BMC Med Ethics       Date:  2017-08-01       Impact factor: 2.652

  5 in total

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