Literature DB >> 18043719

Look before you leap. Carrier screening for type 1 Gaucher disease: difficult questions.

Pascal Borry, Angus Clarke, Kris Dierickx.   

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Year:  2007        PMID： 18043719     DOI： 10.1038/sj.ejhg.5201960

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  7 in total

Review 1.  Improved understanding of genetic and genomic influences on drug disposition and action : implications for children.

Authors:  Denise Avard; Yann Joly
Journal:  Paediatr Drugs       Date:  2008       Impact factor: 3.022

2.  Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.

Authors:  Manisha Balwani; Laura Fuerstman; Ruth Kornreich; Lisa Edelmann; Robert J Desnick
Journal:  Arch Intern Med       Date:  2010-09-13

3.  Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues.

Authors:  Sandra Janssens; Davit Chokoshvilli; Carmen Binst; Inge Mahieu; Lidewij Henneman; Anne De Paepe; Pascal Borry
Journal:  Eur J Hum Genet       Date:  2015-07-29       Impact factor: 4.246

4.  Prenatal healthcare providers' Gaucher disease carrier screening practices.

Authors:  Dana Falcone; Elisabeth McCarty Wood; Michael Mennuti; Sharon X Xie; Vivianna M Van Deerlin
Journal:  Genet Med       Date:  2012-05-31       Impact factor: 8.822

5.  Preconceptional genetic carrier testing and the commercial offer directly-to-consumers.

Authors:  Pascal Borry; Lidewij Henneman; Phillis Lakeman; Leo P ten Kate; Martina C Cornel; Heidi C Howard
Journal:  Hum Reprod       Date:  2011-02-28       Impact factor: 6.918

6.  Responsible implementation of expanded carrier screening.

Authors:  Lidewij Henneman; Pascal Borry; Davit Chokoshvili; Martina C Cornel; Carla G van El; Francesca Forzano; Alison Hall; Heidi C Howard; Sandra Janssens; Hülya Kayserili; Phillis Lakeman; Anneke Lucassen; Sylvia A Metcalfe; Lovro Vidmar; Guido de Wert; Wybo J Dondorp; Borut Peterlin
Journal:  Eur J Hum Genet       Date:  2016-03-16       Impact factor: 4.246

7.  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
  7 in total

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