Literature DB >> 35859682

Les tests et le dépistage génétiques chez les enfants.

Aideen M Moore1, Julie Richer1.   

Abstract

Les tests génétiques, qui ont évolué rapidement depuis vingt ans, deviennent monnaie courante en pédiatrie. Le présent document de principes procure un aperçu des récents développements qui peuvent avoir des répercussions sur les tests génétiques chez les enfants. La génétique est un domaine en constante évolution, et le présent document de principes s'attarde tout particulièrement au dépistage néonatal élargi, au séquençage de nouvelle génération, aux découvertes fortuites, aux tests commercialisés directement auprès des consommateurs, aux tests d'histocompatibilité et aux tests génétiques dans le contexte de la recherche. © Société canadienne de pédiatrie 2022. Publié par Oxford University Press pour le compte de la Société canadienne de pédiatrie. Tous droits réservés. Pour obtenir une autorisation, écrivez à journals.permissions@oup.com.

Entities:  

Keywords:  dépistage génétique; pédiatrie; tests génétiques

Year:  2022        PMID: 35859682      PMCID: PMC9291350          DOI: 10.1093/pch/pxac027

Source DB:  PubMed          Journal:  Paediatr Child Health        ISSN: 1205-7088            Impact factor:   2.600


  24 in total

1.  Genetic testing, legal capacity and adolescents.

Authors:  T Caulfield; B M Knoppers
Journal:  Health Law J       Date:  1998

2.  Pediatric research and the federal minimal risk standard.

Authors:  Lainie Friedman Ross; Robert M Nelson
Journal:  JAMA       Date:  2006-02-15       Impact factor: 56.272

Review 3.  Genomics in newborn screening.

Authors:  Yuval E Landau; Uta Lichter-Konecki; Harvey L Levy
Journal:  J Pediatr       Date:  2013-08-27       Impact factor: 4.406

Review 4.  Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents.

Authors:  Jeffrey R Botkin; John W Belmont; Jonathan S Berg; Benjamin E Berkman; Yvonne Bombard; Ingrid A Holm; Howard P Levy; Kelly E Ormond; Howard M Saal; Nancy B Spinner; Benjamin S Wilfond; Joseph D McInerney
Journal:  Am J Hum Genet       Date:  2015-07-02       Impact factor: 11.025

5.  Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.

Authors:  Carol Jean Saunders; Neil Andrew Miller; Sarah Elizabeth Soden; Darrell Lee Dinwiddie; Aaron Noll; Noor Abu Alnadi; Nevene Andraws; Melanie LeAnn Patterson; Lisa Ann Krivohlavek; Joel Fellis; Sean Humphray; Peter Saffrey; Zoya Kingsbury; Jacqueline Claire Weir; Jason Betley; Russell James Grocock; Elliott Harrison Margulies; Emily Gwendolyn Farrow; Michael Artman; Nicole Pauline Safina; Joshua Erin Petrikin; Kevin Peter Hall; Stephen Francis Kingsmore
Journal:  Sci Transl Med       Date:  2012-10-03       Impact factor: 17.956

6.  ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).

Authors:  David T Miller; Kristy Lee; Wendy K Chung; Adam S Gordon; Gail E Herman; Teri E Klein; Douglas R Stewart; Laura M Amendola; Kathy Adelman; Sherri J Bale; Michael H Gollob; Steven M Harrison; Ray E Hershberger; Kent McKelvey; C Sue Richards; Christopher N Vlangos; Michael S Watson; Christa Lese Martin
Journal:  Genet Med       Date:  2021-05-20       Impact factor: 8.822

7.  The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.

Authors:  Kym Boycott; Taila Hartley; Shelin Adam; Francois Bernier; Karen Chong; Bridget A Fernandez; Jan M Friedman; Michael T Geraghty; Stacey Hume; Bartha M Knoppers; Anne-Marie Laberge; Jacek Majewski; Roberto Mendoza-Londono; M Stephen Meyn; Jacques L Michaud; Tanya N Nelson; Julie Richer; Bekim Sadikovic; David L Skidmore; Tracy Stockley; Sherry Taylor; Clara van Karnebeek; Ma'n H Zawati; Julie Lauzon; Christine M Armour
Journal:  J Med Genet       Date:  2015-05-07       Impact factor: 6.318

8.  Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes.

Authors:  Heidi Carmen Howard; Bartha Maria Knoppers; Martina C Cornel; Ellen Wright Clayton; Karine Sénécal; Pascal Borry
Journal:  Eur J Hum Genet       Date:  2015-01-28       Impact factor: 4.246

Review 9.  Informed consent instead of assent is appropriate in children from the age of twelve: Policy implications of new findings on children's competence to consent to clinical research.

Authors:  Irma M Hein; Martine C De Vries; Pieter W Troost; Gerben Meynen; Johannes B Van Goudoever; Ramón J L Lindauer
Journal:  BMC Med Ethics       Date:  2015-11-09       Impact factor: 2.652

10.  Mastering genomic terminology.

Authors:  Gail P Jarvik; James P Evans
Journal:  Genet Med       Date:  2016-09-22       Impact factor: 8.822

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.