TB and other respiratory infections

Citations 1-10 of 23 total displayed.

Online mutation report
Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family

A Lupi, A Rossi, E Campari, F Pecora, A M Lund, N H Elcioglu, M Gultepe, M Di Rocco, G Cetta, A Forlino
J. Med. Genet. 2006; 43: e58. [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
No associations of human pulmonary tuberculosis with Sp110 variants

T Thye, E N Browne, M A Chinbuah, J Gyapong, I Osei, E Owusu-Dabo, S Niemann, S Rüsch-Gerdes, R D Horstmann, C G Meyer
J. Med. Genet. 2006; 43: e32. [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Association of susceptibility to the development of pneumonia in the older Japanese population with haem oxygenase-1 gene promoter polymorphism

H Yasuda, S Okinaga, M Yamaya, T Ohrui, M Higuchi, M Shinkawa, S Itabashi, K Nakayama, M Asada, A Kikuchi, S Shibahara, H Sasaki
J. Med. Genet. 2006; 43: e17. [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Highly significant linkage to chromosome 3q13.31 for rhinitis and related allergic diseases

C Brasch-Andersen, A Haagerup, A D Børglum, J Vestbo, T A Kruse
J. Med. Genet. 2006; 43: e10. [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24–25

M Geremek, E Zietkiewicz, S R Diehl, B Z Alizadeh, C Wijmenga, M Witt
J. Med. Genet. 2006; 43: e1. [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome

M Plasilova, C Chattopadhyay, P Pal, N A Schaub, S A Buechner, Hj Mueller, P Miny, A Ghosh, K Heinimann
J. Med. Genet. 2004; 41: 609-614. [Extract] [Full text] [PDF] [Request Permissions]  

Electronic letters
FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour

P Finelli, F Natacci, M T Bonati, G Gottardi, J J M Engelen, C E M de Die-Smulders, M Sala, D Giardino, L Larizza
J. Med. Genet. 2004; 41: e90. [Extract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis

K Fujiki, H Ishiguro, S BH Ko, N Mizuno, Y Suzuki, T Takemura, A Yamamoto, T Yoshikawa, M Kitagawa, T Hayakawa, Y Sakai, T Takayama, M Saito, T Kondo, S Naruse
J. Med. Genet. 2004; 41: e55. [Extract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome

F Tassone, R J Hagerman, D Garcia-Arocena, E W Khandjian, C M Greco, P J Hagerman
J. Med. Genet. 2004; 41: e43. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Isolated congenital anosmia locus maps to 18p11.23-q12.2

M Ghadami, S Morovvati, K Majidzadeh-A, E Damavandi, G Nishimura, A Kinoshita, P Pasalar, K Komatsu, M T Najafi, N Niikawa, K Yoshiura
J. Med. Genet. 2004; 41: 299-303. [Extract] [Full text] [PDF] [Request Permissions]