Literature DB >> 22147492

Genetic drift. The diagnostic odyssey to Rett syndrome: the experience of an Australian family.

Marisa Knott1, Helen Leonard, Jenny Downs.   

Abstract

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Year:  2011        PMID： 22147492     DOI： 10.1002/ajmg.a.34372

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  7 in total

Review 1.  Universal newborn screening for congenital CMV infection: what is the evidence of potential benefit?

Authors:  Michael J Cannon; Paul D Griffiths; Van Aston; William D Rawlinson
Journal:  Rev Med Virol       Date:  2014-04-24       Impact factor: 6.989

Review 2.  Quantitative and qualitative insights into the experiences of children with Rett syndrome and their families.

Authors:  Jenny Downs; Helen Leonard
Journal:  Wien Med Wochenschr       Date:  2016-08-04

3.  Genetic Testing among Children in a Complex Care Program.

Authors:  Krista Oei; Robin Z Hayeems; Wendy J Ungar; Ronald D Cohn; Eyal Cohen
Journal:  Children (Basel)       Date:  2017-05-22

4.  Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.

Authors:  Yvonne Zurynski; Marie Deverell; Troy Dalkeith; Sandra Johnson; John Christodoulou; Helen Leonard; Elizabeth J Elliott
Journal:  Orphanet J Rare Dis       Date:  2017-04-11       Impact factor: 4.123

5.  Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities.

Authors:  Monica H Wojcik; Talia S Schwartz; Inbar Yamin; Heather L Edward; Casie A Genetti; Meghan C Towne; Pankaj B Agrawal
Journal:  Genet Med       Date:  2018-04-12       Impact factor: 8.822

6.  "Living an Obstacle Course": A Qualitative Study Examining the Experiences of Caregivers of Children with Rett Syndrome.

Authors:  Domingo Palacios-Ceña; Pilar Famoso-Pérez; Jaime Salom-Moreno; Pilar Carrasco-Garrido; Jorge Pérez-Corrales; Paula Paras-Bravo; Javier Güeita-Rodriguez
Journal:  Int J Environ Res Public Health       Date:  2018-12-25       Impact factor: 3.390

7.  Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.

Authors:  Marco Salvatore; Agata Polizzi; Maria Chiara De Stefano; Giovanna Floridia; Simone Baldovino; Dario Roccatello; Savino Sciascia; Elisa Menegatti; Giuseppe Remuzzi; Erica Daina; Paraskevas Iatropoulos; Bruno Bembi; Rosalia Maria Da Riol; Alessandra Ferlini; Marcella Neri; Giuseppe Novelli; Federica Sangiuolo; Francesco Brancati; Domenica Taruscio
Journal:  Ital J Pediatr       Date:  2020-09-14       Impact factor: 2.638
  7 in total

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