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Journal of Medical Genetics|March 24, 2005
The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohortsV Fremeaux-Bacchi, E J Kemp, J A Goodship, et al.
Lancet (London, England)|May 9, 1992
Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locusP J Scambler, D Kelly, E Lindsay, et al.
Molecular Immunology|March 21, 2007
The decay accelerating factor mutation I197V found in hemolytic uraemic syndrome does not impair complement regulationD Kavanagh, R Burgess, D Spitzer, et al.
American Journal of Human Genetics|November 1, 1992
A prospective cytogenetic study of 36 cases of DiGeorge syndromeD I Wilson, I E Cross, J A Goodship, et al.
Journal of Dental Research|January 15, 2013
Evc regulates a symmetrical response to Shh signaling in molar developmentM Nakatomi, M Hovorakova, A Gritli-Linde, et al.
Clinical and Experimental Immunology|May 24, 2014
A novel method for direct measurement of complement convertases activity in human serumA M Blom, E B Volokhina, V Fransson, et al.
British Heart Journal|October 1, 1991
DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal originD I Wilson, I E Cross, J A Goodship, et al.
Clinical and Experimental Immunology|May 29, 2008
Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndromeA R Gennery, M A Slatter, J Rice, et al.
Nature Genetics|November 4, 2000
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defectsR N Bamford, E Roessler, R D Burdine, et al.
American Journal of Human Genetics|April 1, 2008
FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormalityJ A Fantes, E Boland, J Ramsay, et al.
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