Literature DB >> 23151012

Prenatal diagnostic conundrum involving a novel ATP7A duplication.

C Schoonveld, A Donsante, D del Gaudio, D Waggoner, S Das, S G Kaler.   

Abstract

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Year:  2012        PMID： 23151012      PMCID： PMC4135308          DOI： 10.1111/cge.12041

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  7 in total

Review 1.  Copy number variants, diseases and gene expression.

Authors:  Charlotte N Henrichsen; Evelyne Chaignat; Alexandre Reymond
Journal:  Hum Mol Genet       Date:  2009-04-15       Impact factor: 6.150

Review 2.  ATP7A-related copper transport diseases-emerging concepts and future trends.

Authors:  Stephen G Kaler
Journal:  Nat Rev Neurol       Date:  2011-01       Impact factor: 42.937

3.  Twenty-five novel mutations including duplications in the ATP7A gene.

Authors:  M-P Moizard; N Ronce; S Blesson; E Bieth; L Burglen; C Mignot; I Mortemousque; N Marmin; B Dessay; C Danesino; F Feillet; P Castelnau; A Toutain; C Moraine; M Raynaud
Journal:  Clin Genet       Date:  2011-03       Impact factor: 4.438

Review 4.  Genomics and perinatal care.

Authors:  Joann Bodurtha; Jerome F Strauss
Journal:  N Engl J Med       Date:  2012-01-05       Impact factor: 91.245

5.  Neonatal diagnosis and treatment of Menkes disease.

Authors:  Stephen G Kaler; Courtney S Holmes; David S Goldstein; Jingrong Tang; Sarah C Godwin; Anthony Donsante; Clarissa J Liew; Susumu Sato; Nicholas Patronas
Journal:  N Engl J Med       Date:  2008-02-07       Impact factor: 91.245

6.  Exon duplications in the ATP7A gene: frequency and transcriptional behaviour.

Authors:  Mie Mogensen; Tina Skjørringe; Hiroko Kodama; Kenneth Silver; Nina Horn; Lisbeth B Møller
Journal:  Orphanet J Rare Dis       Date:  2011-11-10       Impact factor: 4.123

7.  Incidental copy-number variants identified by routine genome testing in a clinical population.

Authors:  Philip M Boone; Zachry T Soens; Ian M Campbell; Pawel Stankiewicz; Sau Wai Cheung; Ankita Patel; Arthur L Beaudet; Sharon E Plon; Chad A Shaw; Amy L McGuire; James R Lupski
Journal:  Genet Med       Date:  2012-08-09       Impact factor: 8.822
  7 in total
  2 in total

1.  Tandem Duplication of Exons 1-7 Neither Impairs ATP7A Expression Nor Causes a Menkes Disease Phenotype.

Authors:  Eun-Young Choi; Keyur Patel; Marie Reine Haddad; Ling Yi; Courtney Holmes; David S Goldstein; Amalia Dutra; Evgenia Pak; Stephen G Kaler
Journal:  JIMD Rep       Date:  2015-02-01

Review 2.  Catecholamine metabolites affected by the copper-dependent enzyme dopamine-beta-hydroxylase provide sensitive biomarkers for early diagnosis of menkes disease and viral-mediated ATP7A gene therapy.

Authors:  Stephen G Kaler; Courtney S Holmes
Journal:  Adv Pharmacol       Date:  2013
  2 in total

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