Demographic and phenotypic features of 70 families segregating Barretts oesophagus and oesophageal adenocarcinoma
C M Drovdlic, K A B Goddard, A Chak, W Brock, L Chessler, J F King, J Richter, G W Falk, D K Johnston, J L Fisher, W M Grady, S Lemeshow, and C Eng
J Med Genet 2003; 40: 651-656. doi:10.1136/jmg.40.9.651
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HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours
V M Howell, C J Haven, K Kahnoski, S K Khoo, D Petillo, J Chen, G J Fleuren, B G Robinson, L W Delbridge, J Philips, A E Nelson, U Krause, K Hammje, H Dralle, C Hoang-Vu, O Gimm, D J Marsh, H Morreau, and B T Teh
J Med Genet 2003; 40: 657-663. doi:10.1136/jmg.40.9.657
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Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays
H Fiegler, S M Gribble, D C Burford, P Carr, E Prigmore, K M Porter, S Clegg, J A Crolla, N R Dennis, P Jacobs, and N P Carter
J Med Genet 2003; 40: 664-670. doi:10.1136/jmg.40.9.664
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Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B ) on 6p22
E M Chan, D E Bulman, A D Paterson, J Turnbull, E Andermann, F Andermann, G A Rouleau, A V Delgado-Escueta, S W Scherer, and B A Minassian
J Med Genet 2003; 40: 671-675. doi:10.1136/jmg.40.9.671
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Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries
H P H Neumann, M Salzmann, B Bohnert-Iwan, T Mannuelian, C Skerka, D Lenk, B U Bender, M Cybulla, P Riegler, A Königsrainer, U Neyer, A Bock, U Widmer, D A Male, G Franke, and P F Zipfel
J Med Genet 2003; 40: 676-681. doi:10.1136/jmg.40.9.676
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Neurofibromatosis 2 in a patient with a de novo balanced reciprocal translocation 46,X,t(X;22)(p11.2;q11.2)
C Bovie, S T Holden, A Schroer, E Smith, D Trump, and F L Raymond
J Med Genet 2003; 40: 682-684. doi:10.1136/jmg.40.9.682
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Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3
S Brickwood, D T Bonthron, L I Al-Gazali, K Piper, T Hearn, D I Wilson, and N A Hanley
J Med Genet 2003; 40: 685-689. doi:10.1136/jmg.40.9.685
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Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations
J J Luciani, P de Mas, D Depetris, C Mignon-Ravix, A Bottani, M Prieur, P Jonveaux, A Philippe, G Bourrouillou, B de Martinville, B Delobel, L Vallee, M-F Croquette, and M-G Mattei
J Med Genet 2003; 40: 690-696. doi:10.1136/jmg.40.9.690
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Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema
A L Evans, R Bell, G Brice, P Comeglio, C Lipede, S Jeffery, P Mortimer, M Sarfarazi, and A H Child
J Med Genet 2003; 40: 697-703. doi:10.1136/jmg.40.9.697
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Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes
A Sarkozy, E Conti, D Seripa, M C Digilio, N Grifone, C Tandoi, V M Fazio, V Di Ciommo, B Marino, A Pizzuti, and B Dallapiccola
J Med Genet 2003; 40: 704-708. doi:10.1136/jmg.40.9.704
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A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population
S Yzer, L I van den Born, J Schuil, H Y Kroes, M M van Genderen, F N Boonstra, B van den Helm, H G Brunner, R K Koenekoop, and F P M Cremers
J Med Genet 2003; 40: 709-713. doi:10.1136/jmg.40.9.709
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Single nucleotide polymorphic alleles in the 5' region of the RET proto-oncogene define a risk haplotype in Hirschsprungs disease
M Sancandi, P Griseri, B Pesce, G Patrone, F Puppo, M Lerone, G Martucciello, G Romeo, R Ravazzolo, M Devoto, and I Ceccherini
J Med Genet 2003; 40: 714-718. doi:10.1136/jmg.40.9.714
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Non-random transmission of mutant alleles to female offspring of BRCA1 carriers in Poland
J Gronwald, B Gorski, T Byrski, T Huzarski, A Jakubowska, J Menkiszak, S A Narod, and J Lubinski
J Med Genet 2003; 40: 719-720. doi:10.1136/jmg.40.9.719
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Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class
A G Yip, A Dürr, D A Marchuk, A Ashley-Koch, A Hentati, D C Rubinsztein, and E Reid
J Med Genet 2003; 40: e106. doi:10.1136/jmg.40.9.e106
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Sensitivity of BRCA1/2 mutation testing in 466 breast/ovarian cancer families
D G R Evans, M Bulman, K Young, D Gokhale, and F Lalloo
J Med Genet 2003; 40: e107. doi:10.1136/jmg.40.9.e107
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Promoter polymorphisms of the CD14 gene in Italian patients with coeliac disease
M Boniotto, L Braida, A Ventura, S Percopo, A Amoroso, and S Crovella
J Med Genet 2003; 40: e108. doi:10.1136/jmg.40.9.e108
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