Literature DB >> 28914265

Fragile X testing as a second-tier test.

Taila Hartley1, Ryan Potter2, Lauren Badalato1,2, Amanda C Smith1,2, Olga Jarinova1,2, Kym M Boycott1,2.   

Abstract

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Year:  2017        PMID： 28914265     DOI： 10.1038/gim.2017.147

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


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  5 in total

Review 1.  Comprehensive evaluation of the child with intellectual disability or global developmental delays.

Authors:  John B Moeschler; Michael Shevell
Journal:  Pediatrics       Date:  2014-09       Impact factor: 7.124

Review 2.  Fragile X-associated disorders: a clinical overview.

Authors:  Anne Gallagher; Brian Hallahan
Journal:  J Neurol       Date:  2011-07-12       Impact factor: 4.849

3.  De novo mutations in moderate or severe intellectual disability.

Authors:  Fadi F Hamdan; Myriam Srour; Jose-Mario Capo-Chichi; Hussein Daoud; Christina Nassif; Lysanne Patry; Christine Massicotte; Amirthagowri Ambalavanan; Dan Spiegelman; Ousmane Diallo; Edouard Henrion; Alexandre Dionne-Laporte; Anne Fougerat; Alexey V Pshezhetsky; Sunita Venkateswaran; Guy A Rouleau; Jacques L Michaud
Journal:  PLoS Genet       Date:  2014-10-30       Impact factor: 5.917

4.  Do the data really support ordering fragile X testing as a first-tier test without clinical features?

Authors:  Veronique Weinstein; Pranoot Tanpaiboon; Kimberly A Chapman; Nicholas Ah Mew; Sean Hofherr
Journal:  Genet Med       Date:  2017-05-25       Impact factor: 8.822

5.  Clinical genetic testing for patients with autism spectrum disorders.

Authors:  Yiping Shen; Kira A Dies; Ingrid A Holm; Carolyn Bridgemohan; Magdi M Sobeih; Elizabeth B Caronna; Karen J Miller; Jean A Frazier; Iris Silverstein; Jonathan Picker; Laura Weissman; Peter Raffalli; Shafali Jeste; Laurie A Demmer; Heather K Peters; Stephanie J Brewster; Sara J Kowalczyk; Beth Rosen-Sheidley; Caroline McGowan; Andrew W Duda; Sharyn A Lincoln; Kathryn R Lowe; Alison Schonwald; Michael Robbins; Fuki Hisama; Robert Wolff; Ronald Becker; Ramzi Nasir; David K Urion; Jeff M Milunsky; Leonard Rappaport; James F Gusella; Christopher A Walsh; Bai-Lin Wu; David T Miller
Journal:  Pediatrics       Date:  2010-03-15       Impact factor: 7.124
  5 in total
  1 in total

Review 1.  Diagnostic Approach to Macrocephaly in Children.

Authors:  Andrea Accogli; Ana Filipa Geraldo; Gianluca Piccolo; Antonella Riva; Marcello Scala; Ganna Balagura; Vincenzo Salpietro; Francesca Madia; Mohamad Maghnie; Federico Zara; Pasquale Striano; Domenico Tortora; Mariasavina Severino; Valeria Capra
Journal:  Front Pediatr       Date:  2022-01-14       Impact factor: 3.418
  1 in total

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