Journal of Medical Genetics: 45 (3)

Original articles

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy
(22 October, 2007) Free
A I Jonckheere, M Hogeveen, L G J Nijtmans, M A M van den Brand, A J M Janssen, J H S Diepstra, F C A van den Brandt, L P van den Heuvel, F A Hol, T G J Hofste, L Kapusta, U Dillmann, M G Shamdeen, J A M Smeitink, R J T Rodenburg
Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis
(9 November, 2007)
E Rudd, Y T Bryceson, C Zheng, J Edner, S M Wood, K Ramme, S Gavhed, A Gürgey, M Hellebostad, A G Bechensteen, H-G Ljunggren, B Fadeel, M Nordenskjöld, J-I Henter
Polymorphic MLH1 and risk of cancer after methylating chemotherapy for Hodgkin lymphoma
(24 October, 2007)
L J Worrillow, A G Smith, K Scott, M Andersson, A J Ashcroft, G M Dores, B Glimelius, E Holowaty, G H Jackson, G L Jones, C F Lynch, G Morgan, E Pukkala, D Scott, H H Storm, P R Taylor, M Vyberg, E Willett, L B Travis, J M Allan
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation (15 November, 2007)
E Rossi, M Riegel, J Messa, S Gimelli, P Maraschio, R Ciccone, M Stroppi, P Riva, C S Perrotta, T Mattina, L Memo, A Baumer, V Kucinskas, C Castellan, A Schinzel, O Zuffardi

A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts (15 November, 2007)
A Arora, P J Minogue, X Liu, P K Addison, I Russel-Eggitt, A R Webster, D M Hunt, L Ebihara, E C Beyer, V M Berthoud, A T Moore

A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness
(9 November, 2007)
E A de Zwart-Storm, H Hamm, J Stoevesandt, P M Steijlen, P E Martin, M van Geel, M A M van Steensel
Severe neonatal manifestations of Costello syndrome (26 November, 2007)
I F M Lo, C Brewer, N Shannon, J Shorto, B Tang, G Black, M T Soo, D K K Ng, S T S Lam, B Kerr
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy (9 November, 2007)
H Rosas-Vargas, N Bahi-Buisson, C Philippe, J Nectoux, B Girard, M A N’Guyen Morel, C Gitiaux, L Lazaro, S Odent, P Jonveaux, J Chelly, T Bienvenu
A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes (5 December, 2007)
D Z Loesch, M Cook, L Litewka, E Gould, A Churchyard, F Tassone, H R Slater, E Storey

Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness (29 February, 2008)
K Nozu, T Inagaki, X J Fu, Y Nozu, H Kaito, K Kanda, T Sekine, T Igarashi, K Nakanishi, N Yoshikawa, K Iijima, M Matsuo