TB and other respiratory infections

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
A locus for primary ciliary dyskinesia maps to chromosome 19q
M Meeks, A Walne, S Spiden, H Simpson, H Mussaffi-Georgy, H D Hamam, E L Fehaid, M Cheehab, M Al-Dabbagh, S Polak-Charcon, H Blau, A O'Rawe, H M Mitchison, R M Gardiner, E Chung

Journal of Medical Genetics Apr 2000, 37 (4) 241-244; DOI: 10.1136/jmg.37.4.241
Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia
Michele Lai, Massimo Pifferi, Andrew Bush, Martina Piras, Angela Michelucci, Maria Di Cicco, Ambra del Grosso, Paola Quaranta, Chiara Cursi, Elena Tantillo, Sara Franceschi, Maria Chiara Mazzanti, Paolo Simi, Giuseppe Saggese, Attilio Boner, Mauro Pistello

Journal of Medical Genetics Apr 2016, 53 (4) 242-249; DOI: 10.1136/jmedgenet-2015-103539
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

Journal of Medical Genetics Apr 2004, 41 (4) 299-303; DOI: 10.1136/jmg.2003.015313
Cystic fibrosis carrier frequencies in populations of African origin
Carolyn Padoa, Andrea Goldman, Trefor Jenkins, Michele Ramsay

Journal of Medical Genetics Jan 1999, 36 (1) 41-44; DOI: 10.1136/jmg.36.1.41
High frequency of T9 and CFTR mutations in children with idiopathic bronchiectasis
V N Ninis, M O Kýlýnç, M Kandemir, E Daðlý, A Tolun

Journal of Medical Genetics Jul 2003, 40 (7) 530-535; DOI: 10.1136/jmg.40.7.530
The phenotype of survivors of campomelic dysplasia
S Mansour, A C Offiah, S McDowall, P Sim, J Tolmie, C Hall

Journal of Medical Genetics Aug 2002, 39 (8) 597-602; DOI: 10.1136/jmg.39.8.597
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

Journal of Medical Genetics Aug 2004, 41 (8) 609-614; DOI: 10.1136/jmg.2004.019661
RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections
I Zito, S M Downes, R J Patel, M E Cheetham, N D Ebenezer, S A Jenkins, S S Bhattacharya, A R Webster, G E Holder, A C Bird, D E Bamiou, A J Hardcastle

Journal of Medical Genetics Aug 2003, 40 (8) 609-615; DOI: 10.1136/jmg.40.8.609
Streptococcal infection distinguishes different types of psoriasis
P Weisenseel, B Laumbacher, P Besgen, D Ludolph-Hauser, T Herzinger, M Roecken, R Wank, J C Prinz

Journal of Medical Genetics Oct 2002, 39 (10) 767-768; DOI: 10.1136/jmg.39.10.767

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