Journal of Medical Genetics: 42 (10)

Electronic letters

Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling (30 September, 2005)
J Ingles, A Doolan, C Chiu, J Seidman, C Seidman, C Semsarian
Phenylketonuria screening registry as a resource for population genetic studies (30 September, 2005)
U Hannelius, C M Lindgren, E Melén, A Malmberg, U von Dobeln, J Kere
Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus
(20 July, 2005)
W Chen, K Kahrizi, N C Meyer, Y Riazalhosseini, G Van Camp, H Najmabadi, R J H Smith
Polymorphisms of UDP-glucuronosyltransferase 1A7 are not involved in pancreatic diseases
(30 September, 2005) Free
M Verlaan, J P H Drenth, K Truninger, M Koudova, H-U Schulz, M Bargetzi, B Künzli, H Friess, M Cerny, A Kage, O Landt, R H M te Morsche, J Rosendahl, W Luck, R Nickel, J Halangk, M Becker, M Macek, J B M J Jansen, H Witt

Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD)
(30 September, 2005)
C Bergmann, F Küpper, C P Schmitt, U Vester, T J Neuhaus, J Senderek, K Zerres
Large genomic deletions inactivate the BRCA2 gene in breast cancer families (30 September, 2005)
S Agata, M Dalla Palma, M Callegaro, M C Scaini, C Menin, C Ghiotto, O Nicoletto, G Zavagno, L Chieco-Bianchi, E D’Andrea, M Montagna

Hereditary breast/ovarian and colorectal cancer genetics knowledge in a national sample of US physicians (22 March, 2005)
L Wideroff, S T Vadaparampil, M H Greene, S Taplin, L Olson, A N Freedman
Analysis of somatic molecular changes, clinicopathological features, family history, and germline mutations in colorectal cancer families: evidence for efficient diagnosis of HNPCC and for the existence of distinct groups of non-HNPCC families (23 March, 2005) Free
V Johnson, L R Lipton, C Cummings, A T Eftekhar Sadat, L Izatt, S V Hodgson, I C Talbot, H J W Thomas, A J R Silver, I P M Tomlinson
A common variant of CDKN2A (p16) predisposes to breast cancer (6 May, 2005)
T Dębniak, B Górski, T Huzarski, T Byrski, C Cybulski, A Mackiewicz, S Gozdecka-Grodecka, J Gronwald, E Kowalska, O Haus, E Grzybowska, M Stawicka, M Swiec, K Urbański, S Niepsuj, B Waśko, S Góźdź, P Wandzel, C Szczylik, D Surdyka, A Rozmiarek, O Zambrano, M Posmyk, S A Narod, J Lubinski

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate
(30 September, 2005)
F Laumonnier, S Holbert, N Ronce, F Faravelli, S Lenzner, C E Schwartz, J Lespinasse, H Van Esch, D Lacombe, C Goizet, F Phan-Dinh Tuy, H van Bokhoven, J-P Fryns, J Chelly, H-H Ropers, C Moraine, B C J Hamel, S Briault
Interaction between the α-T catenin gene (VR22) and APOE in Alzheimer’s disease (30 September, 2005)
E R Martin, P G Bronson, Y-J Li, N Wall, R-H Chung, D E Schmechel, G Small, P-T Xu, J Bartlett, N Schnetz-Boutaud, J L Haines, J R Gilbert, M A Pericak-Vance
Molecular diagnosis of autosomal dominant early onset Alzheimer’s disease: an update (20 July, 2005)
G Raux, L Guyant-Maréchal, C Martin, J Bou, C Penet, A Brice, D Hannequin, T Frebourg, D Campion
The oestrogen receptor α gene is linked and/or associated with age of menarche in different ethnic groups (30 September, 2005)
J-R Long, H Xu, L-J Zhao, P-Y Liu, H Shen, Y-J Liu, D-H Xiong, P Xiao, Y-Z Liu, V Dvornyk, J-L Li, R R Recker, H-W Deng