Genomic instability articles within European Journal of Human Genetics

Featured

• Brief Communication | 10 August 2018

  On the loss of human sex chromosomes in lymphocytes with age: a quantitative treatment

  • Reiner A. Veitia

• Article | 23 August 2017

  Accurate and comprehensive analysis of single nucleotide variants and large deletions of the human mitochondrial genome in DNA and single cells

  • Filippo Zambelli
  • , Kim Vancampenhout
  •  & Claudia Spits

• Article | 23 August 2017

  Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome

  • Tuba Dinçer
  • , Gülden Yorgancıoğlu-Budak
  •  & Ersan Kalay

• Article | 24 August 2016

  Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes

  • Edgar S Wills
  • , Wybrich R Cnossen
  •  & Joost P H Drenth

• Article | 22 June 2016

  PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1

  • Julia Vogt
  • , Annekatrin Wernstedt
  •  & Katharina Wimmer

• Article | 09 March 2016

  The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions

  • Ramesh Reddy
  • , Ngoc M P Nguyen
  •  & Rima Slim

• Short Report | 02 March 2016

  A polymorphic Alu insertion that mediates distinct disease-associated deletions

  • Amir Jahic
  • , Anne K Erichsen
  •  & Christian Beetz

• Article | 10 June 2015

  Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders

  • Ching Moey
  • , Susan J Hinze
  •  & Cheryl Shoubridge

• Article | 23 July 2014

  Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1

  • Fernando Morales
  • , Melissa Vásquez
  •  & Darren G Monckton

• Article | 06 November 2013

  Optimization of a pentaplex panel for MSI analysis without control DNA in a Brazilian population: correlation with ancestry markers

  • Nathália C Campanella
  • , Gustavo N Berardinelli
  •  & Rui M Reis

• Article | 10 April 2013

  Oncogenic mutations and microsatellite instability phenotype predict specific anatomical subsite in colorectal cancer patients

  • Giovanni Corso
  • , Valeria Pascale
  •  & Franco Roviello

• Article | 27 February 2013

  Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability

  • Karen N McFarland
  • , Jilin Liu
  •  & Tetsuo Ashizawa

• Article | 10 October 2012

  Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2

  • Tua Vinther-Jensen
  • , Jakob Ek
  •  & Troels Tolstrup Nielsen

• Article | 11 January 2012

  Association of genomic instability, and the methylation status of imprinted genes and mismatch-repair genes, with neural tube defects

  • Zhuo Liu
  • , Zhigang Wang
  •  & Jianxin Wu

• Article | 19 January 2011

  HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia

  • Simon C Warby
  • , Henk Visscher
  •  & Michael R Hayden

• Article | 24 February 2010

  Paternal origin of the de novo constitutional t(11;22)(q23;q11)

  • Tamae Ohye
  • , Hidehito Inagaki
  •  & Hiroki Kurahashi