Gene duplication articles within European Journal of Human Genetics

Featured

• Article | 25 March 2015

  Partial USH2A deletions contribute to Usher syndrome in Denmark

  • Shzeena Dad
  • , Nanna D Rendtorff
  •  & Lisbeth B Møller

• Article | 22 May 2013

  Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABA_A receptor subunit gene cluster

  • Michelle B Polan
  • , Matthew T Pastore
  •  & Kim L McBride

• Article | 17 April 2013

  A 680 kb duplication at the FTO locus in a kindred with obesity and a distinct body fat distribution

  • Robert W Davies
  • , Paulina Lau
  •  & Ruth McPherson

• Article | 03 April 2013

  De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

  • Alina Hilger
  • , Charlotte Schramm
  •  & Markus Draaken

• Article | 12 September 2012

  Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database

  • Jorge Oliveira
  • , Márcia E Oliveira
  •  & Rosário Santos

• Article | 18 July 2012

  NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications

  • Orianne Philippe
  • , Marlène Rio
  •  & Laurence Colleaux

• Letter | 04 July 2012

  Do regulatory regions matter in FOXG1 duplications?

  • Antonio Falace
  • , Nicola Vanni
  •  & Federico Zara

• Short Report | 02 May 2012

  De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity

  • Jaime Vengoechea
  • , Aditi S Parikh
  •  & Flora Tassone

• Article | 15 February 2012

  TBX5 intragenic duplication: a family with an atypical Holt–Oram syndrome phenotype

  • Chirag Patel
  • , Lee Silcock
  •  & Helen Cox

• Letter | 18 January 2012

  Questionable pathogenicity of FOXG1 duplication

  • David J Amor
  • , Trent Burgess
  •  & Mark D Pertile

• Letter | 18 January 2012

  Reply to Amor et al

  • Nicola Brunetti-Pierri
  • , Sau Wai Cheung
  •  & Paweł Stankiewicz

• Short Report | 18 January 2012

  Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay

  • Cyril Amouroux
  • , Marie Vincent
  •  & David Geneviève

• Article | 11 January 2012

  A large duplication involving the IHH locus mimics acrocallosal syndrome

  • Memnune Yuksel-Apak
  • , Nina Bögershausen
  •  & Bernd Wollnik

• Short Report | 08 June 2011

  Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus

  • Jamal Ghoumid
  • , Joris Andrieux
  •  & Muriel Holder-Espinasse

• Article | 01 June 2011

  17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)

  • Christine M Armour
  • , Dennis E Bulman
  •  & Gail E Graham

• Article | 16 February 2011

  De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation

  • Ute Grasshoff
  • , Michael Bonin
  •  & Dagmar Wieczorek

• Article | 01 December 2010

  MECP2 duplications in six patients with complex sex chromosome rearrangements

  • Amy M Breman
  • , Melissa B Ramocki
  •  & Sau Wai Cheung