Prevalence of rare mitochondrial DNA mutations in mitochondrial disordersSylvie Bannwarth, Vincent Procaccio, Anne Sophie Lebre, Claude Jardel, Annabelle Chaussenot, Claire Hoarau, Hassani Maoulida, Nathanaël Charrier, Xiaowu Gai, Hongbo M Xie, Marc Ferre, Konstantina Fragaki, Gaëlle Hardy, Bénédicte Mousson de Camaret, Sandrine MarlinSee the full list of authors
11 July 2013
DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndromeIngrid Slade, Chiara Bacchelli, Helen Davies, Anne Murray, Fatemeh Abbaszadeh, Sandra Hanks, Rita Barfoot, Amos Burke, Julia Chisholm, Martin Hewitt, Helen Jenkinson, Derek King, Bruce Morland, Barry Pizer, Katrina PrescottSee the full list of authors
25 January 2011
A homozygous nonsense mutation (c.214C→A) in the biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasisNikolaj S Nytofte, Maria A Serrano, Maria J Monte, Ester Gonzalez-Sanchez, Zeynep Tumer, Karin Ladefoged, Oscar Briz, Jose J G Marin
28 January 2011
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathyR Mineri, M Rimoldi, A B Burlina, S Koskull, C Perletti, B Heese, U von Döbeln, P Mereghetti, I Di Meo, F Invernizzi, M Zeviani, G Uziel, V Tiranti
1 July 2008
Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafnessK Nozu, T Inagaki, X J Fu, Y Nozu, H Kaito, K Kanda, T Sekine, T Igarashi, K Nakanishi, N Yoshikawa, K Iijima, M Matsuo
29 February 2008
Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutationsH A L Tuppen, F Fattori, R Carrozzo, M Zeviani, S DiMauro, S Seneca, J E Martindale, S E Olpin, E P Treacy, R McFarland, F M Santorelli, R W Taylor
4 January 2008
Diversity of the basic defect of homozygous CFTR mutation genotypes in humansF Stanke, M Ballmann, I Bronsveld, T Dörk, S Gallati, U Laabs, N Derichs, M Ritzka, H-G Posselt, H K Harms, M Griese, H Blau, G Mastella, J Bijman, H VeezeSee the full list of authors
4 January 2008
Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplificationA De Luca, I Bottillo, M C Dasdia, A Morella, V Lanari, L Bernardini, L Divona, S Giustini, L Sinibaldi, A Novelli, I Torrente, A Schirinzi, B Dallapiccola
30 November 2007
The T/G−13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi populationF Imtiaz, E Savilahti, A Sarnesto, D Trabzuni, K Al-Kahtani, I Kagevi, M S Rashed, B F Meyer, I Järvelä
2 October 2007
New PPARG mutation leads to lipodystrophy and loss of protein function that is partially restored by a synthetic ligandAngelika Lüdtke, Janine Buettner, Hartmut H-J Schmidt, Howard J Worman
31 August 2007
