Clinical genetics

Citations 1-10 of 204 total displayed.

Original articles
Association of chromosome 2q36.1–36.3 and autosomal dominant transmission in ankylosing spondylitis: results of genetic studies across generations of Han Chinese families

J Gu, J Huang, C Li, L Zhao, F Huang, Z Liao, T Li, Q Wei, Z Lin, Y Pan, J Huang, X Wang, Q Lin, C Lu, Y Wu, S Cao, J Wu, H Xu, B Yu, Y Shen
J. Med. Genet. 2009 46: 657 -662; published online before print as 10.1136/jmg.2009.066456 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Genome-wide linkage scan for plasma high density lipoprotein cholesterol, apolipoprotein A-1 and triglyceride variation among American Indian populations: the Strong Heart Family Study

X Li, K L Monda, H H H Göring, K Haack, S A Cole, V P Diego, L Almasy, S Laston, B V Howard, N M Shara, E T Lee, L G Best, R R Fabsitz, J W MacCluer, Kari E North
J. Med. Genet. 2009 46: 472 -479; published online before print as 10.1136/jmg.2008.063891 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendicies ]  

Letters to JMG
Disruption of contactin 4 in three subjects with autism spectrum disorder

J Roohi, C Montagna, D H Tegay, L E Palmer, C DeVincent, J C Pomeroy, S L Christian, N Nowak, E Hatchwell
J. Med. Genet. 2009 46: 176 -182; published online before print as 10.1136/jmg.2008.057505 [Abstract] [Full text] [PDF] [Request Permissions]  

Review
Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist

C Lintas, A M Persico
J. Med. Genet. 2009 46: 1 -8; published online before print as 10.1136/jmg.2008.060871 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Mutation in the HPGD gene encoding NAD⁺ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC)

M Tariq, Z Azeem, G Ali, M S Chishti, W Ahmad
J. Med. Genet. 2009 46: 14 -20; published online before print as 10.1136/jmg.2008.061234 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
A PCSK9 variant and familial combined hyperlipidaemia

M Abifadel, L Bernier, G Dubuc, G Nuel, J-P Rabès, J Bonneau, A Marques, M Marduel, M Devillers, A Munnich, D Erlich, M Varret, M Roy, J Davignon, C Boileau
J. Med. Genet. 2008 45: 780 -786; published online before print as 10.1136/jmg.2008.059980 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
The HBS1L-MYB intergenic region on chromosome 6q23 is a quantitative trait locus controlling fetal haemoglobin level in carriers of β-thalassaemia

C-C So, Y-Q Song, S T Tsang, L-F Tang, A Y Chan, E S Ma, L-C Chan
J. Med. Genet. 2008 45: 745 -751; published online before print as 10.1136/jmg.2008.060335 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Letters to JMG
Genome-wide linkage scan for loci of musical aptitude in Finnish families: evidence for a major locus at 4q22

K Pulli, K Karma, R Norio, P Sistonen, H H H Göring, I Järvelä
J. Med. Genet. 2008 45: 451 -456; published online before print as 10.1136/jmg.2007.056366 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

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]  

Mutation report
Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness

K Nozu, T Inagaki, X J Fu, Y Nozu, H Kaito, K Kanda, T Sekine, T Igarashi, K Nakanishi, N Yoshikawa, K Iijima, M Matsuo
J. Med. Genet. 2008; 45: 182-186. [Abstract] [Full text] [PDF] [Request Permissions]