Genetic screening / counselling

Citations 1-10 of 601 total displayed.

Original articles
Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery

D Furniss, S-h Kan, I B Taylor, D Johnson, P S Critchley, H P Giele, A O M Wilkie
J. Med. Genet. 2009 46: 730 -735; published online before print as 10.1136/jmg.2009.066027 [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 ]  

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]  

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]  

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 ]  

Letters to JMG
ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy

Y Bacq, C Gendrot, F Perrotin, L Lefrou, S Chrétien, V Vie-Buret, M-C Brechot, C R Andres
J. Med. Genet. 2009 46: 711 -715; published online before print as 10.1136/jmg.2009.067397 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings

M Tyreman, K M Abbott, L R Willatt, R Nash, C Lees, J Whittaker, I Simonic
J. Med. Genet. 2009 46: 531 -541; published online before print as 10.1136/jmg.2008.065482 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendicies ]  

Letters to JMG
Association of RASGRP1 with type 1 diabetes is revealed by combined follow-up of two genome-wide studies

H Q Qu, S F A Grant, J P Bradfield, C Kim, E Frackelton, H Hakonarson, C Polychronakos
J. Med. Genet. 2009 46: 553 -554; published online before print as 10.1136/jmg.2009.067140 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendix ]  

Mutation report
Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region

C M Wang, P H Dixon, S Decordova, M D Hodges, N J Sebire, S Ozalp, M Fallahian, A Sensi, F Ashrafi, V Repiska, J Zhao, Y Xiang, P M Savage, M J Seckl, R A Fisher
J. Med. Genet. 2009 46: 569 -575; published online before print as 10.1136/jmg.2008.064196 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendix ]  

Letters to JMG
Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson’s disease

S Lesage, C Condroyer, A Lannuzel, E Lohmann, A Troiano, F Tison, P Damier, S Thobois, A-M Ouvrard-Hernandez, S Rivaud-Péchoux, C Brefel-Courbon, A Destée, C Tranchant, M Romana, L Leclere, A Dürr, A Brice, for the French Parkinson’s Disease Genetics Study Group
J. Med. Genet. 2009 46: 458 -464; published online before print as 10.1136/jmg.2008.062612 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendicies ]