Surgical diagnostic tests

Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome
R A Maselli, J J Ng, J A Anderson, O Cagney, J Arredondo, C Williams, H B Wessel, H Abdel-Hamid, R L Wollmann

Journal of Medical Genetics Mar 2009, 46 (3) 203-208; DOI: 10.1136/jmg.2008.063693
Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas
T Tucker, J M Friedman, R E Friedrich, R Wenzel, C Fünsterer, V-F Mautner

Journal of Medical Genetics Feb 2009, 46 (2) 81-85; DOI: 10.1136/jmg.2008.061051
Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy
D Araújo-Vilar, G Lattanzi, B González-Méndez, A T Costa-Freitas, D Prieto, M Columbaro, E Mattioli, B Victoria, N Martínez-Sánchez, A Ramazanova, M Fraga, A Beiras, J Forteza, L Domínguez-Gerpe, C Calvo, J Lado-Abeal

Journal of Medical Genetics Jan 2009, 46 (1) 40-48; DOI: 10.1136/jmg.2008.059485
Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A>G tRNA^Leu mutation
R G E van Eijsden, L M T Eijssen, P J Lindsey, C M M van den Burg, L E A de Wit, M E Rubio-Gozalbo, C E M de Die, T Ayoubi, W Sluiter, I F M de Coo, H J M Smeets

Journal of Medical Genetics Aug 2008, 45 (8) 525-534; DOI: 10.1136/jmg.2008.057497
Isolated cytochrome c oxidase deficiency as a cause of MELAS
W Rossmanith, M Freilinger, J Roka, T Raffelsberger, K Moser-Thier, D Prayer, G Bernert, R E Bittner

Journal of Medical Genetics Feb 2008, 45 (2) 117-121; DOI: 10.1136/jmg.2007.052076
High proportion of large genomic deletions and a genotype–phenotype update in 80 unrelated families with juvenile polyposis syndrome
S Aretz, D Stienen, S Uhlhaas, M Stolte, M M Entius, S Loff, W Back, A Kaufmann, K-M Keller, S H Blaas, R Siebert, S Vogt, S Spranger, E Holinski-Feder, L Sunde, P Propping, W Friedl

Journal of Medical Genetics Nov 2007, 44 (11) 702-709; DOI: 10.1136/jmg.2007.052506
Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing
K Aktan-Collan, A Haukkala, K Pylvänäinen, H J Järvinen, L A Aaltonen, P Peltomäki, E Rantanen, H Kääriäinen, J-P Mecklin

Journal of Medical Genetics Nov 2007, 44 (11) 732-738; DOI: 10.1136/jmg.2007.051581
The T/G−13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population
F Imtiaz, E Savilahti, A Sarnesto, D Trabzuni, K Al-Kahtani, I Kagevi, M S Rashed, B F Meyer, I Järvelä

Journal of Medical Genetics Oct 2007, 44 (10) e89; DOI: 10.1136/jmg.2007.051631
Coordinated transcriptional regulation patterns associated with infertility phenotypes in men
Peter J I Ellis, Robert A Furlong, Sarah J Conner, Jackson Kirkman-Brown, Masoud Afnan, Christopher Barratt, Darren K Griffin, Nabeel A Affara

Journal of Medical Genetics Aug 2007, 44 (8) 498-508; DOI: 10.1136/jmg.2007.049650
Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations
M Fanin, A C Nascimbeni, C Angelini

Journal of Medical Genetics Jan 2007, 44 (1) 38-43; DOI: 10.1136/jmg.2006.044859

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