Molecular genetics

Citations 1-10 of 943 total displayed.

Review
Encephalocraniocutaneous lipomatosis

U Moog
J. Med. Genet. 2009 46: 721 -729; published online before print as 10.1136/jmg.2009.066068 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1

U Hüffmeier, J Lascorz, T Becker, F Schürmeier-Horst, A Magener, A B Ekici, S Endele, C T Thiel, S Thoma-Uszynski, R Mössner, K Reich, W Kurrat, T F Wienker, H Traupe, A Reis
J. Med. Genet. 2009 46: 736 -744; published online before print as 10.1136/jmg.2008.065029 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
Mutation prediction models in Lynch syndrome: evaluation in a clinical genetic setting

D Ramsoekh, M E van Leerdam, A Wagner, E J Kuipers, E W Steyerberg
J. Med. Genet. 2009 46: 745 -751; published online before print as 10.1136/jmg.2009.066589 [Abstract] [Full text] [PDF] [Request Permissions]  

Letter to JMG
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

C Thauvin-Robinet, A Munck, F Huet, E Génin, G Bellis, E Gautier, M-P Audrézet, C Férec, G Lalau, M Des Georges, M Claustres, T Bienvenu, B Gérard, P Boisseau, F Cabet-Bey, D Feldmann, C Clavel, E Bieth, A Iron, B Simon-Bouy, C Costa, R Medina, J Leclerc, D Hubert, R Nové-Josserand, I Sermet-Gaudelus, G Rault, J Flori, S Leroy, N Wizla, G Bellon, A Haloun, S Perez-Martin, G d’Acremont, H Corvol, A Clément, E Houssin, C Binquet, C Bonithon-Kopp, C Alberti-Boulmé, M A Morris, L Faivre, M Goossens, M Roussey, the Collaborating Working Group on R117H and E Girodon
J. Med. Genet. 2009 46: 752 -758; published online before print as 10.1136/jmg.2009.067215 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Deregulation of EIF4E: a novel mechanism for autism

M Neves-Pereira, B Müller, D Massie, J H G Williams, P C M O’Brien, A Hughes, S-B Shen, David St Clair, Z Miedzybrodzka
J. Med. Genet. 2009 46: 759 -765; published online before print as 10.1136/jmg.2009.066852 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Letters to JMG
TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li–Fraumeni syndrome: impact on age at first diagnosis

V Marcel, E I Palmero, P Falagan-Lotsch, G Martel-Planche, P Ashton-Prolla, M Olivier, R R Brentani, P Hainaut, M I Achatz
J. Med. Genet. 2009 46: 766 -772; published online before print as 10.1136/jmg.2009.066704 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Letters to JMG
A common UCP2 polymorphism predisposes to stress hyperglycaemia in severe sepsis

A Pyle, I M Ibbett, C Gordon, S M Keers, M Walker, P F Chinnery, S V Baudouin
J. Med. Genet. 2009 46: 773 -775; published online before print as 10.1136/jmg.2009.067173 [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation reports
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing

R W Labrum, S Rajakulendran, T D Graves, L H Eunson, R Bevan, M G Sweeney, S R Hammans, N Tubridy, T Britton, L J Carr, J R Ostergaard, C R Kennedy, A Al-Memar, D M Kullmann, S Schorge, K Temple, M B Davis, M G Hanna
J. Med. Genet. 2009 46: 786 -791; published online before print as 10.1136/jmg.2009.067967 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

E A Otto, K Tory, M Attanasio, W Zhou, M Chaki, Y Paruchuri, E L Wise, M T F Wolf, B Utsch, C Becker, G Nürnberg, P Nürnberg, A Nayir, S Saunier, C Antignac, F Hildebrandt
J. Med. Genet. 2009 46: 663 -670; published online before print as 10.1136/jmg.2009.066613 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendix ]  

Original articles
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
J. Med. Genet. 2009 46: 671 -679; published online before print as 10.1136/jmg.2008.060897 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendix ]