Journal of Medical Genetics: 49 (1)

Review

Genetic basis of pain variability: recent advances (5 November, 2011)
Erin E Young, William R Lariviere, Inna Belfer

Original article: Defective NDUFA9 as a novel cause of neonatally fatal complex I disease (23 November, 2011) Free
B J C van den Bosch, M Gerards, W Sluiter, A P A Stegmann, E L C Jongen, D M E I Hellebrekers, R Oegema, E H Lambrichs, H Prokisch, K Danhauser, K Schoonderwoerd, I F M de Coo, H J M Smeets
Original article:
Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation
(25 November, 2011)
Hanan E Shamseldin, Maha A Faden, Walid Alashram, Fowzan S Alkuraya

Original article:
CHRNG genotype–phenotype correlations in the multiple pterygium syndromes
(13 December, 2011)
Julie Vogt, Neil V Morgan, Pauline Rehal, Laurence Faivre, Louise A Brueton, Kristin Becker, Jean-Pierre Fryns, Sue Holder, Lily Islam, Emma Kivuva, Sally Ann Lynch, Renaud Touraine, Louise C Wilson, Fiona MacDonald, Eamonn R Maher
Original article: Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study (1 December, 2011)
Polona Le Quesne Stabej, Zubin Saihan, Nell Rangesh, Heather B Steele-Stallard, John Ambrose, Alison Coffey, Jenny Emmerson, Elene Haralambous, Yasmin Hughes, Karen P Steel, Linda M Luxon, Andrew R Webster, Maria Bitner-Glindzicz
Communications:
Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy
(23 November, 2011)
M Losekoot, C A L Ruivenkamp, A P Tholens, J E M A Grimbergen, L Vijfhuizen, S Vermeer, H B Dijkman, E A M Cornelissen, E M H F Bongers, D J M Peters

Original article: Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity (7 October, 2011)
Sabrina Sacconi, Pilar Camaño, Jessica C de Greef, Richard J L F Lemmers, Leonardo Salviati, Pascal Boileau, Adolfo Lopez de Munain Arregui, Silvère M van der Maarel, Claude Desnuelle
Original article: Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome (13 December, 2011)
Ingrid M B H van de Laar, Denise van der Linde, Edwin H G Oei, Pieter K Bos, Johannes H Bessems, Sita M Bierma-Zeinstra, Belle L van Meer, Gerard Pals, Rogier A Oldenburg, Jos A Bekkers, Adriaan Moelker, Bianca M de Graaf, Gabor Matyas, Ingrid M E Frohn-Mulder, Janneke Timmermans, Yvonne Hilhorst-Hofstee, Jan M Cobben, Hennie T Bruggenwirth, Lut van Laer, Bart Loeys, Julie De Backer, Paul J Coucke, Harry C Dietz, Patrick J Willems, Ben A Oostra, Anne De Paepe, Jolien W Roos-Hesselink, Aida M Bertoli-Avella, Marja W Wessels

Original article: A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation (3 December, 2011)
Marlene D Dalgaard, Nils Weinhold, Daniel Edsgärd, Jeremy D Silver, Tune H Pers, John E Nielsen, Niels Jørgensen, Anders Juul, Thomas A Gerds, Aleksander Giwercman, Yvonne L Giwercman, Gabriella Cohn-Cedermark, Helena E Virtanen, Jorma Toppari, Gedske Daugaard, Thomas S Jensen, Søren Brunak, Ewa Rajpert-De Meyts, Niels E Skakkebæk, Henrik Leffers, Ramneek Gupta

Original article: Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome (7 October, 2011)
J P Lopez-Atalaya, C Gervasini, F Mottadelli, S Spena, M Piccione, G Scarano, A Selicorni, A Barco, L Larizza