Surgical diagnostic tests

Citations 1-10 of 85 total displayed.

Mutation reports
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
J. Med. Genet. 2009; 46: 203-208. [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas

T Tucker, J M Friedman, R E Friedrich, R Wenzel, C Fünsterer, V-F Mautner
J. Med. Genet. 2009 46: 81 -85; published online before print as 10.1136/jmg.2008.061051 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
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
J. Med. Genet. 2009 46: 40 -48; published online before print as 10.1136/jmg.2008.059485 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
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
J. Med. Genet. 2008 45: 525 -534; published online before print as 10.1136/jmg.2008.057497 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Mutation reports
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
J. Med. Genet. 2008; 45: 117-121. [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]  

Original articles
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
J. Med. Genet. 2007 44: 702 -709; published online before print as 10.1136/jmg.2007.052506 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
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
J. Med. Genet. 2007 44: 732 -738; published online before print as 10.1136/jmg.2007.051581 [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation report
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
J. Med. Genet. 2007; 44: e89. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
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
J. Med. Genet. 2007 44: 498 -508; published online before print as 10.1136/jmg.2007.049650 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations

M Fanin, A C Nascimbeni, C Angelini
J. Med. Genet. 2007 44: 38 -43; published online before print as 10.1136/jmg.2006.044859 [Abstract] [Full text] [PDF] [Request Permissions]