• Biology, Medicine
  • Published in
    American journal of human…
    1999
  • DOI:10.1086/302468

Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.

@article{Wadey1999MutationsOU,
  title={Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.},
  author={Roy B. Wadey and J. McKie and C Papapetrou and Heather Sutherland and Frans Lohman and Jan Osinga and Inge Frohn and Robert Hofstra and Carel Meijers and Francesca Amati and Erika Conti and Antonio Pizzuti and Bruno Dallapiccola and Giuseppe Novelli and Peter J. Scambler},
  journal={American journal of human genetics},
  year={1999},
  volume={65 1},
  pages={
          247-9
        }
}
We would like to thank the families and clinicians who made the study possible. Support was from the Birth Defects Foundation and the British Heart Foundation (to P.J.S.), Telethon Foundation grant E. 723 (to B.D. and G.N.), and the Dutch Heart Foundation and the Sophia Foundation for Medical Research (to C.M.). We would like to thank Drs. Antonio Baldini and Elizabeth Lindsay for patient referrals, helpful discussion, and providing critical data prior to publication. Access to PCR conditions… CONTINUE READING

Topics from this paper.

Citations

Publications citing this paper.
SHOWING 1-10 OF 12 CITATIONS

Recent advances in the understanding of genetic causes of congenital heart defects.

  • Frontiers in bioscience : a journal and virtual library
  • 2000
VIEW 5 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Developmental perspectives on copy number abnormalities of the 22 q 11 . 2 region

CT Gordonb, DJ Amora
  • 2010
VIEW 1 EXCERPT
CITES BACKGROUND