Congenital heart disease

Citations 1-10 of 67 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
Premature death in adults with 22q11.2 deletion syndrome

A S Bassett, E W C Chow, J Husted, K A Hodgkinson, E Oechslin, L Harris, C Silversides
J. Med. Genet. 2009 46: 324 -330; published online before print as 10.1136/jmg.2008.063800 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Investigation of somatic NKX2-5 mutations in congenital heart disease

J M Draus, Jr, M A Hauck, M Goetsch, E H Austin, III, A Tomita-Mitchell, M E Mitchell
J. Med. Genet. 2009; 46: 115-122. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease

F Erdogan, L A Larsen, L Zhang, Z Tümer, N Tommerup, W Chen, J R Jacobsen, M Schubert, J Jurkatis, A Tzschach, H-H Ropers, R Ullmann
J. Med. Genet. 2008 45: 704 -709; published online before print as 10.1136/jmg.2008.058776 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]  

Original articles
Congenital heart disease is a feature of severe infantile spinal muscular atrophy

S Rudnik-Schöneborn, R Heller, C Berg, C Betzler, T Grimm, T Eggermann, K Eggermann, R Wirth, B Wirth, K Zerres
J. Med. Genet. 2008 45: 635 -638; published online before print as 10.1136/jmg.2008.057950 [Abstract] [Full text] [PDF] [Request Permissions]  

Letter to JMG
Heart–hand syndrome of Slovenian type: a new kind of laminopathy

L Renou, S Stora, R Ben Yaou, M Volk, M Sinkovec, L Demay, P Richard, B Peterlin, G Bonne
J. Med. Genet. 2008 45: 666 -671; published online before print as 10.1136/jmg.2008.060020 [Abstract] [Full text] [PDF] [Request Permissions]  

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]  

Original articles
Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders

A-M Nyström, S Ekvall, E Berglund, M Björkqvist, G Braathen, K Duchen, H Enell, E Holmberg, U Holmlund, M Olsson-Engman, G Annerén, M-L Bondeson
J. Med. Genet. 2008 45: 500 -506; published online before print as 10.1136/jmg.2008.057653 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Letters to JMG
Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations

C M Armour, J E Allanson
J. Med. Genet. 2008 45: 249 -254; published online before print as 10.1136/jmg.2007.054460 [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]