Literature DB >> 28771250

Should we implement population screening for fragile X?

David P Dimmock1.   

Abstract

Entities:  

Mesh：

Year:  2017        PMID： 28771250     DOI： 10.1038/gim.2017.81

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


× No keyword cloud information.
  11 in total

1.  Predictive testing for Huntington's disease: the calm after the storm.

Authors:  M R Hayden
Journal:  Lancet       Date:  2000-12-09       Impact factor: 79.321

2.  Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.

Authors:  Marsha Mailick Seltzer; Mei Wang Baker; Jinkuk Hong; Matthew Maenner; Jan Greenberg; Daniel Mandel
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2012-05-22       Impact factor: 3.568

3.  Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years.

Authors:  Anne Andermann; Ingeborg Blancquaert; Sylvie Beauchamp; Véronique Déry
Journal:  Bull World Health Organ       Date:  2008-04       Impact factor: 9.408

4.  Prospective Evaluation of Predictive DNA Testing for Huntington's Disease in a Large German Center.

Authors:  Aysegül Ibisler; Sebastian Ocklenburg; Susanne Stemmler; Larissa Arning; Jörg T Epplen; Carsten Saft; Sabine Hoffjan
Journal:  J Genet Couns       Date:  2017-03-30       Impact factor: 2.537

5.  Cost-effectiveness of PCSK9 Inhibitor Therapy in Patients With Heterozygous Familial Hypercholesterolemia or Atherosclerotic Cardiovascular Disease.

Authors:  Dhruv S Kazi; Andrew E Moran; Pamela G Coxson; Joanne Penko; Daniel A Ollendorf; Steven D Pearson; Jeffrey A Tice; David Guzman; Kirsten Bibbins-Domingo
Journal:  JAMA       Date:  2016-08-16       Impact factor: 56.272

6.  Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.

Authors:  Bradford Coffee; Krayton Keith; Igor Albizua; Tamika Malone; Julie Mowrey; Stephanie L Sherman; Stephen T Warren
Journal:  Am J Hum Genet       Date:  2009-10       Impact factor: 11.025

7.  Caregiver opinions about fragile X population screening.

Authors:  Donald B Bailey; Ellen Bishop; Melissa Raspa; Debra Skinner
Journal:  Genet Med       Date:  2011-09-13       Impact factor: 8.822

8.  Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain.

Authors:  Raquel M Fernández; Ana Peciña; Maria Dolores Lozano-Arana; Beatriz Sánchez; Juan Carlos García-Lozano; Salud Borrego; Guillermo Antiñolo
Journal:  Biomed Res Int       Date:  2015-12-02       Impact factor: 3.411

9.  Early intervention combined with targeted treatment promotes cognitive and behavioral improvements in young children with fragile x syndrome.

Authors:  Tri Indah Winarni; Andrea Schneider; Mariya Borodyanskara; Randi J Hagerman
Journal:  Case Rep Genet       Date:  2012-03-26

10.  Clinical utility and cost of non-invasive prenatal testing with cfDNA analysis in high-risk women based on a US population.

Authors:  Ken Song; Thomas J Musci; Aaron B Caughey
Journal:  J Matern Fetal Neonatal Med       Date:  2013-03-06
View more
  3 in total

1.  Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines.

Authors:  Katherine Johansen Taber; Jeraldine Lim-Harashima; Harris Naemi; Jim Goldberg
Journal:  Mol Genet Genomic Med       Date:  2019-11-06       Impact factor: 2.183

2.  Attitudes toward population screening among people living with fragile X syndrome in the UK: 'I wouldn't wish him away, I'd just wish his fragile X syndrome away'.

Authors:  Felicity K Boardman
Journal:  J Genet Couns       Date:  2020-11-12       Impact factor: 2.717

3.  Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center.

Authors:  Hui Xi; Wanqin Xie; Jing Chen; Wanglan Tang; Xiuli Deng; Hua Li; Ying Peng; Dan Wang; Shuting Yang; Yanan Zhang; Ranhui Duan; Junqun Fang; Hua Wang
Journal:  Mol Genet Genomic Med       Date:  2021-05-31       Impact factor: 2.183
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.