Heidi HeilstedtSummaryAffiliation: Baylor College of Medicine Country: USA Publications
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Publications
Infantile hypotonia as a presentation of Rett syndromeHeidi A Heilstedt
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Am J Med Genet 111:238-42. 2002..Furthermore, it supports the hypothesis of an underlying secondary defect in energy metabolism contributing to the pathogenesis of RTT...
A case of familial isolated hemihyperplasiaHeidi A Heilstedt
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
BMC Med Genet 5:1. 2004..Hemihyperplasia can be isolated or be part of well-defined syndromes such as in the case of Beckwith-Wiedemann syndrome (BWS). Isolated hemihyperplasia is usually sporadic, but a number of familial occurrences have been described...
Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- miceClemencia Colmenares
Department of Cancer Biology, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
Nat Genet 30:106-9. 2002..3 and is deleted in all of the individuals tested so far who have this syndrome. Thus, SKI may contribute to some of the phenotypes common in 1p36 deletion syndrome, and particularly to facial clefting...
