Concepedia

Missense Mutations in CRELD1 Are Associated with Cardiac Atrioventricular Septal Defects

Susan W. Robinson, Cynthia D. Morris, Elizabeth Goldmuntz, Mark D. Reller, Melanie A. Jones, Robert D. Steiner, Cheryl L. Maslen

The American Journal of Human Genetics · 2003 · 243 citations · 19 references

DOIFull text

Open access

Concepts

References

19

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects

Richard N. Bamford, Erich Roessler, Rebecca D. Burdine et al. · Nature Genetics · 2000 · 351 citations

, , +12

The human gene mutation database

Michael Krawczak · Trends in Genetics · 1997 · 261 citations

, , +15

CFC1 Mutations in Patients with Transposition of the Great Arteries and Double-Outlet Right Ventricle

Elizabeth Goldmuntz, Richard N. Bamford, Jayaprakash D. Karkera et al. · The American Journal of Human Genetics · 2002 · 205 citations · Full text

, , +13

Down syndrome congenital heart disease: A narrowed region and a candidate gene

Gillian M. Barlow, Xiao–Ning Chen, Gary E. Lyons et al. · Genetics in Medicine · 2001 · 194 citations · Full text

, , +16

Marfan Database (third edition): new mutations and new routines for the software

Gwenaëlle Collod‐Béroud · Nucleic Acids Research · 1998 · 109 citations · Full text

, , +12