Literature DB >> 21753177

"I'm fine; I'm just waiting for my disease": the new and growing class of presymptomatic patients.

Jennifer M Kwon, Robert D Steiner.   

Abstract

Entities:  

Mesh：

Year:  2011        PMID： 21753177     DOI： 10.1212/WNL.0b013e318228c15f

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  16 in total

1.  Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers.

Authors:  Emily C Lisi; Shawn E McCandless
Journal:  J Genet Couns       Date:  2015-08-29       Impact factor: 2.537

Review 2.  Emerging issues in public health genomics.

Authors:  Dana Dolinoy; Beth Tarini; J Scott Roberts
Journal:  Annu Rev Genomics Hum Genet       Date:  2014       Impact factor: 8.929

3.  Global imperatives and challenges facing the practice of neurology.

Authors:  Robert C Griggs; Bertrand Fontaine; Gen Sobue
Journal:  Neurol Clin Pract       Date:  2011-12

Review 4.  Ethical issues with newborn screening in the genomics era.

Authors:  Beth A Tarini; Aaron J Goldenberg
Journal:  Annu Rev Genomics Hum Genet       Date:  2012-05-01       Impact factor: 8.929

Review 5.  Grey zones in cardiomyopathies: defining boundaries between genetic and iatrogenic disease.

Authors:  Giovanni Quarta; Michael Papadakis; Paolo Di Donna; Niccolò Maurizi; Attilio Iacovoni; Antonello Gavazzi; Michele Senni; Iacopo Olivotto
Journal:  Nat Rev Cardiol       Date:  2016-11-10       Impact factor: 32.419

6.  Whole-body muscle MRI to detect myopathies in non-extrapyramidal bent spine syndrome.

Authors:  Mickaël Ohana; Marie-Christine Durand; Catherine Marty; Jean-Philippe Lazareth; Thierry Maisonobe; Dominique Mompoint; Robert-Yves Carlier
Journal:  Skeletal Radiol       Date:  2014-05-31       Impact factor: 2.199

7.  The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.

Authors:  Eugene Diekman; Monique de Sain-van der Velden; Hans Waterham; Leo Kluijtmans; Peter Schielen; Evert Ben van Veen; Sacha Ferdinandusse; Frits Wijburg; Gepke Visser
Journal:  JIMD Rep       Date:  2015-10-10

8.  Actionable secondary findings in arrhythmogenic right ventricle cardiomyopathy genes: impact and challenge of genetic counseling.

Authors:  Angela Abicht; Ulrike Schön; Andreas Laner; Elke Holinski-Feder; Isabel Diebold
Journal:  Cardiovasc Diagn Ther       Date:  2021-04

9.  Public support for neonatal screening for Pompe disease, a broad-phenotype condition.

Authors:  Stephanie Shifra Weinreich; Tessel Rigter; Carla Geertruida van El; Wybo Jan Dondorp; Pieter Johannes Kostense; Ans T van der Ploeg; Arnold J J Reuser; Martina Cornelia Cornel; Marloes Louise Catharina Hagemans
Journal:  Orphanet J Rare Dis       Date:  2012-03-14       Impact factor: 4.123

10.  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
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