Journal of Medical Genetics: 43 (8)

Electronic letters

Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region (1 August, 2006)
S Russo, P Finelli, M P Recalcati, S Ferraiuolo, F Cogliati, B Dalla Bernardina, M G Tibiletti, M Agosti, M Sala, M T Bonati, L Larizza
Genetic predictors for acute experimental cold and heat pain sensitivity in humans (1 August, 2006)
H Kim, D P Mittal, M J Iadarola, R A Dionne
STK11 status and intussusception risk in Peutz-Jeghers syndrome
(1 August, 2006) Free
N Hearle, V Schumacher, F H Menko, S Olschwang, L A Boardman, J J P Gille, J J Keller, A M Westerman, R J Scott, W Lim, J D Trimbath, F M Giardiello, S B Gruber, G J A Offerhaus, F W M D E Rooij, J H P Wilson, A Hansmann, G Möslein, B Royer-Pokora, T Vogel, R K S Phillips, A D Spigelman, R S Houlston
CYP19 haplotypes increase risk for Alzheimer’s disease (1 August, 2006)
R Huang, S E Poduslo
Association of lung function decline with the heme oxygenase-1 gene promoter microsatellite polymorphism in a general population sample. Results from the European Community Respiratory Health Survey (ECRHS), France (1 August, 2006)
A Guénégou, B Leynaert, J Bénessiano, I Pin, P Demoly, F Neukirch, J Boczkowski, M Aubier

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports (20 February, 2006)
B Menten, N Maas, B Thienpont, K Buysse, J Vandesompele, C Melotte, T de Ravel, S Van Vooren, I Balikova, L Backx, S Janssens, A De Paepe, B De Moor, Y Moreau, P Marynen, J-P Fryns, G Mortier, K Devriendt, F Speleman, J R Vermeesch
Mutations of human TMHS cause recessively inherited non-syndromic hearing loss
(3 February, 2006)
M I Shabbir, Z M Ahmed, S Y Khan, Saima Riazuddin, A M Waryah, S N Khan, R D Camps, M Ghosh, M Kabra, I A Belyantseva, T B Friedman, Sheikh Riazuddin
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants (10 February, 2006)
R Varki, S Sadowski, E Pfendner, J Uitto
Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome
(29 March, 2006)
C-W Lu, J-H Lin, Y S Rajawat, H Jerng, T G Rami, X Sanchez, G DeFreitas, B Carabello, F DeMayo, D L Kearney, G Miller, H Li, P J Pfaffinger, N E Bowles, D S Khoury, J A Towbin
Redefining the risks of prenatally ascertained supernumerary marker chromosomes: a collaborative study (1 August, 2006)
M D Graf, L Christ, J T Mascarello, P Mowrey, M Pettenati, G Stetten, P Storto, U Surti, D L Van Dyke, G H Vance, D Wolff, S Schwartz

Tissue specific distribution of the 3243A→G mtDNA mutation (20 February, 2006)
A L Frederiksen, P H Andersen, K O Kyvik, T D Jeppesen, J Vissing, M Schwartz
Altered CD45 expression in C77G carriers influences immune function and outcome of hepatitis C infection (27 February, 2006)
R Dawes, B Hennig, W Irving, S Petrova, S Boxall, V Ward, D Wallace, D C Macallan, M Thursz, A Hill, W Bodmer, P C L Beverley, E Z Tchilian
Biochemical screening of type I collagen in osteogenesis imperfecta: detection of glycine substitutions in the amino end of the alpha chains requires supplementation by molecular analysis (1 August, 2006)
W A Cabral, S Milgrom, A D Letocha, E Moriarty, J C Marini
Predicting disease genes using protein–protein interactions (12 April, 2006)
M Oti, B Snel, M A Huynen, H G Brunner
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene
(27 February, 2006)
R Jalkanen, M Mäntyjärvi, R Tobias, J Isosomppi, E-M Sankila, T Alitalo, N T Bech-Hansen