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1.
Aneuploidy in neuroblastoma tumors is not associated with inactivating point mutations in the STAG2 gene
Anna Djos, Susanne Fransson, Per Kogner, Tommy Martinsson BMC Medical Genetics 2013, 14 :102 (2 October 2013)
Abstract | Provisional PDF
2.
Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for “double trouble” overlapping syndromes
Olivia Schreiber, Peter Schneiderat, Wolfram Kress, Bernd Rautenstrauss, Jan Senderek, Benedikt Schoser, Maggie C Walter BMC Medical Genetics 2013, 14 :92 (16 September 2013)
Abstract | Full text | PDF
| PubMed
3.
Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy
Anna Ardissone, Cinzia Bragato, Lorella Caffi, Flavia Blasevich, Sabrina Maestrini, Maria Bianchi, Lucia Morandi, Isabella Moroni, Marina Mora BMC Medical Genetics 2013, 14 :89 (11 September 2013)
Abstract | Full text | PDF
| PubMed
4.
Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology
William J Craigen, Brett H Graham, Lee-Jun Wong, Fernando Scaglia, Richard Lewis, Penelope E Bonnen BMC Medical Genetics 2013, 14 :83 (16 August 2013)
Abstract | Full text | PDF
| ePUB | PubMed
5.
Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome
Ambroise Wonkam, Jean Noubiap, Jason Bosch, Collet Dandara, Geneviève Toure BMC Medical Genetics 2013, 14 :81 (7 August 2013)
Abstract | Full text | PDF
| ePUB | PubMed
6.
MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting
Valentina Gatta, Elena Gennaro, Sara Franchi, Massimiliano Cecconi, Ivana Antonucci, Marco Tommasi, Giandomenico Palka, Domenico Coviello, Liborio Stuppia, Marina Grasso BMC Medical Genetics 2013, 14 :79 (5 August 2013)
Abstract | Full text | PDF
| ePUB | PubMed
7.
Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1 : case report
Mariana Moscovich, Mark S LeDoux, Jianfeng Xiao, Garrett L Rampon, Satya R Vemula, Ramon L Rodriguez, Kelly D Foote, Michael S Okun BMC Medical Genetics 2013, 14 :70 (13 July 2013)
Abstract | Full text | PDF
| PubMed
8.
Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy
Heather M McLaughlin, Melissa A Kelly, Pamela P Hawley, Basil T Darras, Birgit Funke, Jonathan Picker BMC Medical Genetics 2013, 14 :68 (2 July 2013)
Abstract | Full text | PDF
| ePUB | PubMed
9.
Functional characterisation of human cells harbouring a novel t(2p;7p) translocation involving TNS3 and EXOC6B genes
Desiree Ludwig, Jessica Carter, James R Smith, Giuseppe Borsani, Sergio Barlati, Sassan Hafizi BMC Medical Genetics 2013, 14 :65 (28 June 2013)
Abstract | Full text | PDF
| ePUB | PubMed
10.
Inherited KIF21A and PAX6 gene mutations in a boy with congenital Fibrosis of extraocular muscles and aniridia
Ming Ying, Ruifang Han, Peng Hao, Liming Wang, Ningdong Li BMC Medical Genetics 2013, 14 :63 (21 June 2013)
Abstract | Full text | PDF
| ePUB | PubMed
