Metabolic disorders

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome
M Gerards, W Sluiter, B J C van den Bosch, L E A de Wit, C M H Calis, M Frentzen, H Akbari, K Schoonderwoerd, H R Scholte, R J Jongbloed, A T M Hendrickx, I F M de Coo, H J M Smeets

Journal of Medical Genetics Aug 2010, 47 (8) 507-512; DOI: 10.1136/jmg.2009.067553
Genetic variant in the promoter of connective tissue growth factor gene confers susceptibility to nephropathy in type 1 diabetes
Bing Wang, Rickey E Carter, Miran A Jaffa, Sashidhar Nakerakanti, Daniel Lackland, Maria Lopes-Virella, Maria Trojanowska, Louis M Luttrell, Ayad A Jaffa, The DCCT/EDIC Study Group

Journal of Medical Genetics Jun 2010, 47 (6) 391-397; DOI: 10.1136/jmg.2009.073098
A case of Beckwith–Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus
Marcella Zollino, Daniela Orteschi, Giuseppe Marangi, Agostina De Crescenzo, Vanna Pecile, Andrea Riccio, Giovanni Neri

Journal of Medical Genetics Jun 2010, 47 (6) 429-432; DOI: 10.1136/jmg.2009.071142
Screening for Fabry disease in high-risk populations: a systematic review
G E Linthorst, M G Bouwman, F A Wijburg, J M F G Aerts, B J H M Poorthuis, C E M Hollak

Journal of Medical Genetics Apr 2010, 47 (4) 217-222; DOI: 10.1136/jmg.2009.072116
Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and GNAS imprinting defects
B Lecumberri, E Fernández-Rebollo, L Sentchordi, P Saavedra, A Bernal-Chico, L F Pallardo, J M Jiménez Bustos, L Castaño, M de Santiago, O Hiort, G Pérez de Nanclares, M Bastepe

Journal of Medical Genetics Apr 2010, 47 (4) 276-280; DOI: 10.1136/jmg.2009.071001
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands
S S Cathey, J G Leroy, T Wood, K Eaves, R J Simensen, M Kudo, R E Stevenson, M J Friez

Journal of Medical Genetics Jan 2010, 47 (1) 38-48; DOI: 10.1136/jmg.2009.067736
Clinical and cellular characterisation of Hermansky–Pudlak syndrome type 6
M Huizing, B Pederson, R A Hess, A Griffin, A Helip-Wooley, W Westbroek, H Dorward, K J O’Brien, G Golas, E Tsilou, J G White, W A Gahl

Journal of Medical Genetics Dec 2009, 46 (12) 803-810; DOI: 10.1136/jmg.2008.065961
A common UCP2 polymorphism predisposes to stress hyperglycaemia in severe sepsis
A Pyle, I M Ibbett, C Gordon, S M Keers, M Walker, P F Chinnery, S V Baudouin

Journal of Medical Genetics Nov 2009, 46 (11) 773-775; DOI: 10.1136/jmg.2009.067173
The unfolding clinical spectrum of POLG mutations
M J Blok, B J van den Bosch, E Jongen, A Hendrickx, C E de Die-Smulders, J E Hoogendijk, E Brusse, M de Visser, B T Poll-The, J Bierau, I F de Coo, H J Smeets

Journal of Medical Genetics Nov 2009, 46 (11) 776-785; DOI: 10.1136/jmg.2009.067686
Natural course of Fabry disease: changing pattern of causes of death in FOS – Fabry Outcome Survey
A Mehta, J T R Clarke, R Giugliani, P Elliott, A Linhart, M Beck, G Sunder-Plassmann

Journal of Medical Genetics Aug 2009, 46 (8) 548-552; DOI: 10.1136/jmg.2008.065904

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