Surgical diagnostic tests

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
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour
S Reid, A Renwick, S Seal, L Baskcomb, R Barfoot, H Jayatilake, K Pritchard-Jones, M R Stratton, A Ridolfi-Lüthy, N Rahman

Journal of Medical Genetics Feb 2005, 42 (2) 147-151; DOI: 10.1136/jmg.2004.022673
Association of PLUNC gene polymorphisms with susceptibility to nasopharyngeal carcinoma in a Chinese population
Y He, G Zhou, Y Zhai, X Dong, L Lv, F He, K Yao

Journal of Medical Genetics Feb 2005, 42 (2) 172-176; DOI: 10.1136/jmg.2004.022616
The frequency of mtDNA 8994 polymorphism and detection of the NARP 8993 mutation
R G F Gray, P A Davies, A Marshall, S K Heath

Journal of Medical Genetics Mar 2002, 39 (3) 204-205; DOI: 10.1136/jmg.39.3.204
Paternal uniparental disomy in monozygotic twins discordant for hemihypertrophy
P M H West, D R Love, P M Stapleton, I M Winship

Journal of Medical Genetics Mar 2003, 40 (3) 223-226; DOI: 10.1136/jmg.40.3.223
A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21
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

Journal of Medical Genetics Mar 2004, 41 (3) 224-229; DOI: 10.1136/jmg.2003.013201
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation
P Gómez-Garre, M Seijo, E Gutiérrez-Delicado, M Castro del Río, C de la Torre, C Gómez-Abad, J Morales-Corraliza, M Puig, J M Serratosa

Journal of Medical Genetics Mar 2006, 43 (3) 232-237; DOI: 10.1136/jmg.2004.029173
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
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

Journal of Medical Genetics Mar 2004, 41 (3) 233-240; DOI: 10.1136/jmg.2003.014084
Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia
Özgecan Ayhan, Mahmut Balkan, Ayse Guven, Renin Hazan, Murat Atar, Atalay Tok, Aslıhan Tolun

Journal of Medical Genetics Apr 2014, 51 (4) 239-244; DOI: 10.1136/jmedgenet-2013-102102
Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis
Vincent José Soler, Khanh-Nhat Tran-Viet, Stéphane D Galiacy, Vachiranee Limviphuvadh, Thomas Patrick Klemm, Elizabeth St Germain, Pierre R Fournié, Céline Guillaud, Sebastian Maurer-Stroh, Felicia Hawthorne, Cyrielle Suarez, Bernadette Kantelip, Natalie A Afshari, Isabelle Creveaux, Xiaoyan Luo, Weihua Meng, Patrick Calvas, Myriam Cassagne, Jean-Louis Arné, Steven G Rozen, François Malecaze, Terri L Young

Journal of Medical Genetics Apr 2013, 50 (4) 246-254; DOI: 10.1136/jmedgenet-2012-101325

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