Editor's choice

Citations 1-10 of 20 total displayed.

Review
Double outlet right ventricle: aetiologies and associations

D Obler, A L Juraszek, L B Smoot, M R Natowicz
J. Med. Genet. 2008 45: 481 -497; published online before print as 10.1136/jmg.2008.057984 [Abstract] [Full text] [PDF] [Request Permissions]  

Review
Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders

M Morleo, B Franco
J. Med. Genet. 2008 45: 401 -408; published online before print as 10.1136/jmg.2008.058305 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
BHD mutations, clinical and molecular genetic investigations of Birt–Hogg–Dubé syndrome: a new series of 50 families and a review of published reports

J R Toro, M-H Wei, G M Glenn, M Weinreich, O Toure, C Vocke, M Turner, P Choyke, M J Merino, P A Pinto, S M Steinberg, L S Schmidt, W M Linehan
J. Med. Genet. 2008 45: 321 -331; published online before print as 10.1136/jmg.2007.054304 [Abstract] [Full text] [PDF] [Request Permissions]  

Review
Recent advances in the molecular pathology, cell biology and genetics of ciliopathies

M Adams, U M Smith, C V Logan, C A Johnson
J. Med. Genet. 2008 45: 257 -267; published online before print as 10.1136/jmg.2007.054999 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
The genetic aetiology of Silver–Russell syndrome

S Abu-Amero, D Monk, J Frost, M Preece, P Stanier, G E Moore
J. Med. Genet. 2008 45: 193 -199; published online before print as 10.1136/jmg.2007.053017 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy

A I Jonckheere, M Hogeveen, L G J Nijtmans, M A M van den Brand, A J M Janssen, J H S Diepstra, F C A van den Brandt, L P van den Heuvel, F A Hol, T G J Hofste, L Kapusta, U Dillmann, M G Shamdeen, J A M Smeitink, R J T Rodenburg
J. Med. Genet. 2008 45: 129 -133; published online before print as 10.1136/jmg.2007.052084 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

N M C Maas, G Van Buggenhout, F Hannes, B Thienpont, D Sanlaville, K Kok, A Midro, J Andrieux, B-M Anderlid, J Schoumans, R Hordijk, K Devriendt, J-P Fryns, J R Vermeesch
J. Med. Genet. 2008 45: 71 -80; published online before print as 10.1136/jmg.2007.052910 [Abstract] [Full text] [PDF] [Request Permissions]  

Review
Hirschsprung disease, associated syndromes and genetics: a review

J Amiel, E Sproat-Emison, M Garcia-Barcelo, F Lantieri, G Burzynski, S Borrego, A Pelet, S Arnold, X Miao, P Griseri, A S Brooks, G Antinolo, L de Pontual, M Clement-Ziza, A Munnich, C Kashuk, K West, K K-Y Wong, S Lyonnet, A Chakravarti, P K-H Tam, I Ceccherini, R M W Hofstra, R Fernandez, for the Hirschsprung Disease Consortium
J. Med. Genet. 2008 45: 1 -14; published online before print as 10.1136/jmg.2007.053959 [Abstract] [Full text] [PDF] [Request Permissions]  

Review
Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature

M Carlson, M Silberbach
J. Med. Genet. 2007 44: 745 -749; published online before print as 10.1136/jmg.2007.052019 [Abstract] [Full text] [PDF] [Request Permissions] [ web only tables ]  

Review
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes

P de Bie, P Muller, C Wijmenga, L W J Klomp
J. Med. Genet. 2007 44: 673 -688; published online before print as 10.1136/jmg.2007.052746 [Abstract] [Full text] [PDF] [Request Permissions]