Molecular genetics

RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa
A Moore, E Escudier, G Roger, A Tamalet, B Pelosse, S Marlin, A Clément, M Geremek, B Delaisi, A-M Bridoux, A Coste, M Witt, B Duriez, S Amselem

Journal of Medical Genetics Apr 2006, 43 (4) 326-333; DOI: 10.1136/jmg.2005.034868
Genetics of microtia and associated syndromes
F Alasti, G Van Camp

Journal of Medical Genetics Jun 2009, 46 (6) 361-369; DOI: 10.1136/jmg.2008.062158
Chromosome 15q11–13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number
A Hogart, K N Leung, N J Wang, D J Wu, J Driscoll, R O Vallero, N C Schanen, J M LaSalle

Journal of Medical Genetics Feb 2009, 46 (2) 86-93; DOI: 10.1136/jmg.2008.061580
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling
J Ingles, A Doolan, C Chiu, J Seidman, C Seidman, C Semsarian

Journal of Medical Genetics Oct 2005, 42 (10) e59; DOI: 10.1136/jmg.2005.033886
Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy
Elisa Fassone, Jan-Willem Taanman, Iain P Hargreaves, Neil J Sebire, Maureen A Cleary, Michael Burch, Shamima Rahman

Journal of Medical Genetics Oct 2011, 48 (10) 691-697; DOI: 10.1136/jmedgenet-2011-100340
Recent advances in the molecular genetics of epilepsy
Michael S Hildebrand, Hans-Henrik M Dahl, John Anthony Damiano, Richard J H Smith, Ingrid E Scheffer, Samuel F Berkovic

Journal of Medical Genetics May 2013, 50 (5) 271-279; DOI: 10.1136/jmedgenet-2012-101448
Normal and aberrant splicing of LMNA
Yue-Bei Luo, Frank L Mastaglia, Steve D Wilton

Journal of Medical Genetics Apr 2014, 51 (4) 215-223; DOI: 10.1136/jmedgenet-2013-102119
Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity
K Kanai, S Yoshida, S Hirose, H Oguni, S Kuwabara, S Sawai, A Hiraga, G Fukuma, H Iwasa, T Kojima, S Kaneko

Journal of Medical Genetics Oct 2009, 46 (10) 671-679; DOI: 10.1136/jmg.2008.060897
Skewed X chromosome inactivation and early-onset breast cancer
J P Struewing, M A Pineda, M E Sherman, J Lissowska, L A Brinton, B Peplonska, A Bardin-Mikolajczak, M Garcia-Closas

Journal of Medical Genetics Jan 2006, 43 (1) 48-53; DOI: 10.1136/jmg.2005.033134
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

Journal of Medical Genetics Sep 2006, 43 (9) e48; DOI: 10.1136/jmg.2005.039479

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