Journal of Medical Genetics: 42 (1)

Review

Rett syndrome: clinical review and genetic update (5 January, 2005) Free
L S Weaving, C J Ellaway, J Gécz, J Christodoulou

A third locus for dominant optic atrophy on chromosome 22q (5 January, 2005)
F Barbet, S Hakiki, C Orssaud, S Gerber, I Perrault, S Hanein, D Ducroq, J-L Dufier, A Munnich, J Kaplan, J-M Rozet

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes (5 January, 2005)
S M Gribble, E Prigmore, D C Burford, K M Porter, Bee Ling Ng, E J Douglas, H Fiegler, P Carr, D Kalaitzopoulos, S Clegg, R Sandstrom, I K Temple, S A Youings, N S Thomas, N R Dennis, P A Jacobs, J A Crolla, N P Carter
Fine mapping of a region on chromosome 21q21.11–q22.3 showing linkage to type 1 diabetes (5 January, 2005)
R Bergholdt, J Nerup, F Pociot
Angiotensin converting enzyme gene polymorphism and cardiovascular morbidity and mortality: the Rotterdam Study (5 January, 2005)
F A Sayed-Tabatabaei, A F C Schut, A Arias Vásquez, A M Bertoli-Avella, A Hofman, J C M Witteman, C M van Duijn
A PDGFRA promoter polymorphism, which disrupts the binding of ZNF148, is associated with primitive neuroectodermal tumours and ependymomas
(5 January, 2005)
C De Bustos, A Smits, B Strömberg, V P Collins, M Nistér, G Afink
Biochemical analysis of cultured chorionic villi for the prenatal diagnosis of peroxisomal disorders: biochemical thresholds and molecular sensitivity for maternal cell contamination detection (5 January, 2005)
S Steinberg, S Katsanis, A Moser, G Cutting
Multiple meningiomas: differential involvement of the NF2 gene in children and adults
(5 January, 2005)
D G R Evans, C Watson, A King, A J Wallace, M E Baser

Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome (5 January, 2005)
J D Hoffman, Y Zhang, J Greshock, K L Ciprero, B S Emanuel, E H Zackai, B L Weber, J E Ming

An aetiological classification of birth defects for epidemiological research (5 January, 2005)
D Wellesley, P Boyd, H Dolk, S Pattenden
New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype (5 January, 2005)
M Font-Llitjós, M Jiménez-Vidal, L Bisceglia, M Di Perna, L de Sanctis, F Rousaud, L Zelante, M Palacín, V Nunes
A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing
(5 January, 2005)
J W Cardinal, L Bergman, N Hayward, A Sweet, J Warner, L Marks, D Learoyd, T Dwight, B Robinson, M Epstein, M Smith, B T Teh, D P Cameron, J B Prins

Evidence for a gene influencing haematocrit on chromosome 6q23–24: genomewide scan in the Framingham Heart Study (5 January, 2005)
J-P Lin, C J O’Donnell, D Levy, L A Cupples
A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1–12q14 (5 January, 2005)
P A Wilkinson, M A Simpson, L Bastaki, H Patel, J A Reed, K Kalidas, E Samilchuk, R Khan, T T Warner, A H Crosby
A full genome scan for gastric cancer (5 January, 2005)
M Aoki, K Yamamoto, H Noshiro, K Sakai, J Yokota, T Kohno, T Tokino, S Ishida, S Ohyama, I Ninomiya, K Uesaka, M Kitajima, S Shimada, S Matsuno, M Yano, M Hiratsuka, H Sugimura, F Itoh, T Minamoto, Y Maehara, S Takenoshita, T Aikou, H Katai, K Yoshimura, T Takahashi, K Akagi, M Sairenji, Y Yamamura, T Sasazuki
Identification of a new locus for isolated familial keratoconus at 2p24 (5 January, 2005)
H Hutchings, H Ginisty, M Le Gallo, D Levy, F Stoësser, J F Rouland, J L Arné, M H Lalaux, P Calvas, M P Roth, A Hovnanian, F Malecaze
The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients
(5 January, 2005)
K Eliason, B C Hendrickson, T Judkins, M Norton, B Leclair, E Lyon, B Ward, W Noll, T Scholl