A further contribution to the delineation of the 17q21.31 microdeletion syndrome: Central nervous involvement in two Italian patients
- 1 August 2012
- journal article
- case report
- Published by Elsevier BV in European Journal of Medical Genetics
- Vol. 55 (8-9), 466-471
- https://doi.org/10.1016/j.ejmg.2012.04.010
Abstract
No abstract availableThis publication has 11 references indexed in Scilit:
- 17q21.31 microdeletion in a patient with pituitary stalk interruption syndromeEuropean Journal of Medical Genetics, 2011
- Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardationEuropean Journal of Medical Genetics, 2011
- Recurrent Inversion Events at 17q21.31 Microdeletion Locus Are Linked to the MAPT H2 HaplotypeCytogenetic and Genome Research, 2010
- 17q21.31 microduplication patients are characterised by behavioural problems and poor social interactionJournal of Medical Genetics, 2009
- Partial deletion of theMAPTgene: A novel mechanism of FTDP-17Human Mutation, 2009
- Clinical and molecular delineation of the 17q21.31 microdeletion syndromeJournal of Medical Genetics, 2008
- Phenotypic definition of Chiari type I malformation coupled with high‐density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15American Journal of Medical Genetics Part A, 2006
- A common inversion under selection in EuropeansNature Genetics, 2005
- The role of tau (MAPT) in frontotemporal dementia and related tauopathiesHuman Mutation, 2004
- Chiari I Malformation Redefined: Clinical and Radiographic Findings for 364 Symptomatic PatientsNeurosurgery, 1999