Surgical diagnostic tests

Citations 11-20 of 85 total displayed.

Electronic letters
A novel mutation in the mitochondrial tRNA^Ser(AGY) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency

L-J C Wong, D Yim, R-K Bai, H Kwon, M M Vacek, J Zane, C L Hoppel, D S Kerr
J. Med. Genet. 2006; 43: e46. [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Novel NHLRC1 mutations and genotype–phenotype correlations in patients with Lafora’s progressive myoclonic epilepsy

S Singh, I Sethi, S Francheschetti, C Riggio, G Avanzini, K Yamakawa, A V Delgado-Escueta, S Ganesh
J. Med. Genet. 2006; 43: e48. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment

A Del Fattore, B Peruzzi, N Rucci, I Recchia, A Cappariello, M Longo, D Fortunati, P Ballanti, M Iacobini, M Luciani, R Devito, R Pinto, M Caniglia, E Lanino, C Messina, S Cesaro, C Letizia, G Bianchini, H Fryssira, P Grabowski, N Shaw, N Bishop, D Hughes, R P Kapur, H K Datta, A Taranta, R Fornari, S Migliaccio, A Teti
J. Med. Genet. 2006 43: 315 -325; published online before print as 10.1136/jmg.2005.036673 [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
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
J. Med. Genet. 2006 43: 232 -237; published online before print as 10.1136/jmg.2004.029173 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Impact of homozygosity for an amyloidogenic transthyretin mutation on phenotype and long term outcome

G Holmgren, U Hellman, H-E Lundgren, O Sandgren, O B Suhr
J. Med. Genet. 2005 42: 953 -956; published online before print as 10.1136/jmg.2005.033720 [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
A combination of genetic polymorphisms increases the risk of progressive disease in chronic hepatitis C

M M Richardson, E E Powell, H D Barrie, A D Clouston, D M Purdie, J R Jonsson
J. Med. Genet. 2005; 42: e45. [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Interleukin 12 gene polymorphisms enhance gastric cancer risk in H pylori infected individuals

F Navaglia, D Basso, C-F Zambon, E Ponzano, L Caenazzo, N Gallo, A Falda, C Belluco, P Fogar, E Greco, F Di Mario, M Rugge, M Plebani
J. Med. Genet. 2005; 42: 503-510. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome

L S Correa-Cerro, C A Wassif, J S Waye, P A Krakowiak, D Cozma, N R Dobson, S W Levin, G Anadiotis, R D Steiner, M Krajewska-Walasek, M J M Nowaczyk, F D Porter
J. Med. Genet. 2005; 42: 350-357. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

R Claramunt, L Pedrola, T Sevilla, A López de Munain, J Berciano, A Cuesta, B Sánchez-Navarro, J M Millán, G M Saifi, J R Lupski, J J Vílchez, C Espinós, F Palau
J. Med. Genet. 2005; 42: 358-365. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11

A De Sandre-Giovannoli, V Delague, T Hamadouche, M Chaouch, M Krahn, I Boccaccio, T Maisonobe, E Chouery, R Jabbour, S Atweh, D Grid, A Mégarbané, N Lévy
J. Med. Genet. 2005; 42: 260-265. [Extract] [Full text] [PDF] [Request Permissions]