Journal of Medical Genetics: 41 (3)

Electronic letters

DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function
(1 March, 2004) Free
P J Lockhart, S Lincoln, M Hulihan, J Kachergus, K Wilkes, G Bisceglio, D C Mash, M J Farrer
The impact of proband mediated information dissemination in families with a BRCA1/2 gene mutation
(1 March, 2004) Free
E Sermijn, G Goelen, E Teugels, L Kaufman, M Bonduelle, B Neyns, B Poppe, A De Paepe, J De Grève
Subcellular localisation of marenostrin/pyrin isoforms carrying the most common mutations involved in familial Mediterranean fever in the presence or absence of its binding partner ASC (1 March, 2004) Free
C Cazeneuve, S Papin, I Jéru, P Duquesnoy, S Amselem
Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13) (1 March, 2004) Free
J M Hertz, B Sivertsen, A Silahtaroglu, M Bugge, V Kalscheuer, A Weber, J Wirth, H-H Ropers, N Tommerup, Z Tümer
Tetrasomy 21pter→q21.2 in a male infant without typical Down’s syndrome dysmorphic features but moderate mental retardation (1 March, 2004) Free
I Rost, H Fiegler, C Fauth, P Carr, T Bettecken, J Kraus, C Meyer, A Enders, A Wirtz, T Meitinger, N P Carter, M R Speicher
CLCA1 gene polymorphisms in chronic obstructive pulmonary disease
(1 March, 2004) Free
A E Hegab, T Sakamoto, Y Uchida, A Nomura, Y Ishii, Y Morishima, M Mochizuki, T Kimura, W Saitoh, H H Massoud, H M Massoud, K M Hassanein, K Sekizawa
Hepatic lipase C-480T polymorphism modifies the effect of HDL cholesterol on the risk of acute myocardial infarction in men: a prospective population based study (1 March, 2004) Free
Y M Fan, J T Salonen, T A Koivu, T-P Tuomainen, K Nyyssönen, T A Lakka, R Salonen, K Seppänen, S T Nikkari, E Tahvanainen, T Lehtimäki
A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia (1 March, 2004) Free
C Goizet, R Ben Yaou, L Demay, P Richard, S Bouillot, M Rouanet, E Hermosilla, G Le Masson, A Lagueny, G Bonne, X Ferrer

Online mutation reports

Genetic and epigenetic profile of sporadic pheochromocytomas (1 March, 2004) Free
A Cascon, S Ruiz-Llorente, M F Fraga, R Leton, D Telleria, J Sastre, J Jose Diez, G Martinez Diaz-Guerra, J A Diaz Perez, J Benitez, M Esteller, M Robledo
Extending the p16-Leiden tumour spectrum by respiratory tract tumours (1 March, 2004) Free
R A Oldenburg, W H de Vos tot Nederveen Cappel, M van Puijenbroek, A van den Ouweland, E Bakker, G Griffioen, P Devilee, C J Cornelisse, H Meijers-Heijboer, H F A Vasen, H Morreau
Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP)
(1 March, 2004) Free
A Villablanca, A Calender, L Forsberg, A Höög, J-D Cheng, D Petillo, C Bauters, K Kahnoski, T Ebeling, P Salmela, A-L Richardson, L Delbridge, A Meyrier, C Proye, J D Carpten, B T Teh, B G Robinson, C Larsson
RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene (1 March, 2004) Free
S Shepherd, F Ellis, J Halsall, P Hopkins, R Robinson
A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability
(1 March, 2004) Free
O Caluseriu, C Di Gregorio, E Lucci-Cordisco, M Santarosa, J Trojan, A Brieger, P Benatti, M Pedroni, T Colibazzi, A Bellacosa, G Neri, M Ponz de Leon, A Viel, M Genuardi
Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction (1 March, 2004) Free
M C Richards, S E Heron, H E Spendlove, I E Scheffer, B Grinton, S F Berkovic, J C Mulley, A Davy

Commentary

Apolipoprotein E polymorphisms and risk of malaria (1 March, 2004) Free
M A Wozniak, E M Riley, R F Itzhaki

Corrections

CORRECTION (1 March, 2004) Free
CORRECTION (1 March, 2004) Free
CORRECTION (1 March, 2004) Free

Original articles

A genotype-phenotype correlation for GJB2 (connexin 26) deafness
(1 March, 2004) Free
K Cryns, E Orzan, A Murgia, P L M Huygen, F Moreno, I del Castillo, G Parker Chamberlin, H Azaiez, S Prasad, R A Cucci, E Leonardi, R L Snoeckx, P J Govaerts, P H Van de Heyning, C M Van de Heyning, R J H Smith, G Van Camp
Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications (1 March, 2004) Free
J Warner, M Epstein, A Sweet, D Singh, J Burgess, S Stranks, P Hill, D Perry-Keene, D Learoyd, B Robinson, P Birdsey, E Mackenzie, B T Teh, J B Prins, J Cardinal
Akt activation and localisation correlate with tumour invasion and oncogene expression in thyroid cancer (1 March, 2004) Free
V Vasko, M Saji, E Hardy, M Kruhlak, A Larin, V Savchenko, M Miyakawa, O Isozaki, H Murakami, T Tsushima, K D Burman, C De Micco, M D Ringel

Short reports

Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia
(1 March, 2004) Free
Y Yang, Y Wang, S Li, Z Xu, H Li, L Ma, J Fan, D Bu, B Liu, Z Fan, G Wu, J Jin, B Ding, X Zhu, Y Shen
BAC microarray analysis of 15q11–q13 rearrangements and the impact of segmental duplications (1 March, 2004) Free
D P Locke, R Segraves, R D Nicholls, S Schwartz, D Pinkel, D G Albertson, E E Eichler
Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy (1 March, 2004) Free
C C Garcia, H J Blair, M Seager, A Coulthard, S Tennant, M Buddles, A Curtis, J A Goodship

Book Review

Familial breast and ovarian cancer: genetics, screening, and management (1 March, 2004) Free
C M Drovdlic

Echoes

Investigation of crystallin genes in familial cataract, and report of two disease associated mutations (1 March, 2004) Free
K P Burdon, M G Wirth, D A Mackey, I M Russell-Eggitt, J E Craig, J E Elder, J L Dickinson, M M Sale
Aetiology of colorectal cancer and relevance of monogenic inheritance (1 March, 2004) Free
M Ponz de Leon, P Benatti, F Borghi, M Pedroni, A Scarselli, C Di Gregorio, L Losi, A Viel, M Genuardi, G Abbati, G Rossi, M Menigatti, I Lamberti, G Ponti, L Roncucci
Standardised measures of retinal function pinpoint genotype in X linked congenital stationary night blindness (1 March, 2004) Free

Letters to JMG

A locus for autosomal dominant keratoconus maps to human chromosome 3p14–q13 (1 March, 2004) Free
F Brancati, E M Valente, A Sarkozy, J Fehèr, M Castori, P Del Duca, R Mingarelli, A Pizzuti, B Dallapiccola
Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12–q13.3 (1 March, 2004) Free
E Nelis, J Berciano, N Verpoorten, K Coen, I Dierick, V Van Gerwen, O Combarros, P De Jonghe, V Timmerman
The performance of CGH array for the detection of cryptic constitutional chromosome imbalances (1 March, 2004) Free
J Schoumans, B-M Anderlid, E Blennow, B T Teh, M Nordenskjöld
Genotype and psychological phenotype in tuberous sclerosis (1 March, 2004)
J C Lewis, H V Thomas, K C Murphy, J R Sampson
Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3–34.13 (1 March, 2004) Free
J Klar, T Gedde-Dahl, M Larsson, M Pigg, B Carlsson, D Tentler, A Vahlquist, N Dahl
Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36 (1 March, 2004) Free
H Thiele, C McCann, S van’t Padje, G C Schwabe, H C Hennies, G Camera, J Opitz, R Laxova, S Mundlos, P Nürnberg
Interleukin-1 cluster is associated with genetic risk for schizophrenia and bipolar disorder (1 March, 2004) Free
S Papiol, A Rosa, B Gutiérrez, B Martín, P Salgado, R Catalán, B Arias, L Fañanás
A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21 (1 March, 2004) Free
R I Takata, C E Speck Martins, M R Passosbueno, K T Abe, A L Nishimura, M Dorvalina Da Silva, A Monteiro, M I Lima, F Kok, M Zatz
Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype (1 March, 2004) Free
P Bauer, F Laccone, A Rolfs, U Wüllner, S Bösch, H Peters, S Liebscher, M Scheible, J T Epplen, B H F Weber, E Holinski-Feder, H Weirich-Schwaiger, D J Morris-Rosendahl, J Andrich, O Riess
Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates (1 March, 2004) Free
D Jeganathan, R Chodhari, M Meeks, O Færoe, D Smyth, K Nielsen, I Amirav, A S Luder, H Bisgaard, R M Gardiner, E M K Chung, H M Mitchison

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Table of contents

March 2004 - Volume 41 - 3

Electronic letters

Online mutation reports

Commentary

Corrections

Original articles

Short reports

Book Review

Echoes

Letters to JMG

Issue Information

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Table of contents

March 2004 - Volume 41 - 3

Electronic letters

Online mutation reports

Commentary

Corrections

Original articles

Short reports

Book Review

Echoes

Letters to JMG

Issue Information