Literature DB >> 20808325

Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy.

Laura L Klitten, Rikke S Møller, Kirstine Ravn, Helle Hjalgrim, Niels Tommerup.   

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Year:  2010        PMID： 20808325      PMCID： PMC3039513          DOI： 10.1038/ejhg.2010.149

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  8 in total

1.  Evolution and functional classification of vertebrate gene deserts.

Authors:  Ivan Ovcharenko; Gabriela G Loots; Marcelo A Nobrega; Ross C Hardison; Webb Miller; Lisa Stubbs
Journal:  Genome Res       Date:  2004-12-08       Impact factor: 9.043

2.  Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements.

Authors:  Annabel Whibley; Jill Urquhart; Jonathan Dore; Lionel Willatt; Georgina Parkin; Lorraine Gaunt; Graeme Black; Dian Donnai; F Lucy Raymond
Journal:  Eur J Hum Genet       Date:  2010-05-19       Impact factor: 4.246

Review 3.  From monogenic to polygenic obesity: recent advances.

Authors:  Anke Hinney; Carla I G Vogel; Johannes Hebebrand
Journal:  Eur Child Adolesc Psychiatry       Date:  2010-02-03       Impact factor: 4.785

Review 4.  CNV and nervous system diseases--what's new?

Authors:  W Gu; J R Lupski
Journal:  Cytogenet Genome Res       Date:  2009-03-11       Impact factor: 1.636

5.  Characterization of interstitial Xp duplications in two families by tiling path array CGH.

Authors:  Andreas Tzschach; Wei Chen; Fikret Erdogan; Adelheid Hoeller; Hans-Hilger Ropers; Claudio Castellan; Reinhard Ullmann; Albert Schinzel
Journal:  Am J Med Genet A       Date:  2008-01-15       Impact factor: 2.802

6.  Inherited partial X chromosome duplication in a mentally retarded male.

Authors:  K B Nielsen; F Langkjaer
Journal:  J Med Genet       Date:  1982-06       Impact factor: 6.318

7.  Highly conserved non-coding sequences are associated with vertebrate development.

Authors:  Adam Woolfe; Martin Goodson; Debbie K Goode; Phil Snell; Gayle K McEwen; Tanya Vavouri; Sarah F Smith; Phil North; Heather Callaway; Krys Kelly; Klaudia Walter; Irina Abnizova; Walter Gilks; Yvonne J K Edwards; Julie E Cooke; Greg Elgar
Journal:  PLoS Biol       Date:  2004-11-11       Impact factor: 8.029

8.  Arrays of ultraconserved non-coding regions span the loci of key developmental genes in vertebrate genomes.

Authors:  Albin Sandelin; Peter Bailey; Sara Bruce; Pär G Engström; Joanna M Klos; Wyeth W Wasserman; Johan Ericson; Boris Lenhard
Journal:  BMC Genomics       Date:  2004-12-21       Impact factor: 3.969
  8 in total
  2 in total

1.  Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.

Authors:  G McMichael; M N Bainbridge; E Haan; M Corbett; A Gardner; S Thompson; B W M van Bon; C L van Eyk; J Broadbent; C Reynolds; M E O'Callaghan; L S Nguyen; D L Adelson; R Russo; S Jhangiani; H Doddapaneni; D M Muzny; R A Gibbs; J Gecz; A H MacLennan
Journal:  Mol Psychiatry       Date:  2015-02-10       Impact factor: 15.992

Review 2.  Monoaminergic Mechanisms in Epilepsy May Offer Innovative Therapeutic Opportunity for Monoaminergic Multi-Target Drugs.

Authors:  Dubravka Svob Strac; Nela Pivac; Ilse J Smolders; Wieslawa A Fogel; Philippe De Deurwaerdere; Giuseppe Di Giovanni
Journal:  Front Neurosci       Date:  2016-11-10       Impact factor: 4.677
  2 in total

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