Drugs: endocrine system

Citations 1-10 of 81 total displayed.

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 ]  

Review
The genetic basis of congenital hyperinsulinism

C James, R R Kapoor, D Ismail, K Hussain
J. Med. Genet. 2009 46: 289 -299; published online before print as 10.1136/jmg.2008.064337 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension

M Shintani, H Yagi, T Nakayama, T Saji, R Matsuoka
J. Med. Genet. 2009 46: 331 -337; published online before print as 10.1136/jmg.2008.062703 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendices ]  

Original articles
Identification of a 2244 base pair interstitial deletion within the human ESR1 gene in the Spanish population

J Jorge Galan, B Buch, S Pedrinaci, P Jimenez-Gamiz, A Gonzalez, M Serrano-Rios, A Salinas, M del Carmen Rivero, L M Real, J L Royo, A Ruiz
J. Med. Genet. 2008 45: 420 -424; published online before print as 10.1136/jmg.2007.056952 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation

K Osoegawa, G M Vessere, K H Utami, M A Mansilla, M K Johnson, B M Riley, J L’Heureux, R Pfundt, J Staaf, W A van der Vliet, A C Lidral, E F P M Schoenmakers, A Borg, B C Schutte, E J Lammer, J C Murray, P J de Jong
J. Med. Genet. 2008 45: 81 -86; published online before print as 10.1136/jmg.2007.052191 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Letters to JMG
Phenotypic and population differences in the association between CILP and lumbar disc disease

I M Virtanen, Y Q Song, K M C Cheung, L Ala-Kokko, J Karppinen, D W H Ho, K D K Luk, S P Yip, J C Y Leong, K S E Cheah, P Sham, D Chan
J. Med. Genet. 2007 44: 285 -288; published online before print as 10.1136/jmg.2006.047076 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Variants in mannose-binding lectin and tumour necrosis factor affect survival in cystic fibrosis

Kitti Buranawuti, Michael P Boyle, Suzanne Cheng, Lori L Steiner, Kathryn McDougal, M Daniele Fallin, Christian Merlo, Pamela L Zeitlin, Beryl J Rosenstein, Peter J Mogayzel, Jr, Xinjing Wang, Garry R Cutting
J. Med. Genet. 2007 44: 209 -214; published online before print as 10.1136/jmg.2006.046318 [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease

Jacinta Bustamante, Capucine Picard, Claire Fieschi, Orchidée Filipe-Santos, Jacqueline Feinberg, Christian Perronne, Ariane Chapgier, Ludovic de Beaucoudrey, Guillaume Vogt, Damien Sanlaville, Arnaud Lemainque, Jean-François Emile, Laurent Abel, Jean-Laurent Casanova
J. Med. Genet. 2007; 44: e65. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease

Cheng-Lung Ku, Capucine Picard, Melinda Erdös, Axel Jeurissen, Jacinta Bustamante, Anne Puel, Horst von Bernuth, Orchidée Filipe-Santos, Huey-Hsuan Chang, Tatiana Lawrence, Marc Raes, László Maródi, Xavier Bossuyt, Jean-Laurent Casanova
J. Med. Genet. 2007 44: 16 -23; published online before print as 10.1136/jmg.2006.044446 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Genomewide scans of red cell indices suggest linkage on chromosome 6q23

A Iliadou, D M Evans, G Zhu, D L Duffy, I H Frazer, G W Montgomery, N G Martin
J. Med. Genet. 2007 44: 24 -30; published online before print as 10.1136/jmg.2006.043521 [Abstract] [Full text] [PDF] [Request Permissions]