Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Leslie G. Biesecker"'
Autor:
Jay N. Lozier, Neal L. Oden, Jasmine Burton-Akright, Anjali Taneja, Leslie G. Biesecker, Kim M. Keppler-Noreuil, Julie C. Sapp
Publikováno v:
Am J Med Genet C Semin Med Genet
Increased risk of thromboembolism has been recognized in individuals with mosaic overgrowth disorders, Proteus syndrome (PS) and PIK3CA-related overgrowth spectrum (PROS), including Klippel–Trenaunay syndrome and CLOVES syndrome. PS and PROS have d
Publikováno v:
American Journal of Medical Genetics Part A. 173:2359-2365
Patients with overgrowth and complex vascular malformation syndromes, including Proteus syndrome have an increased risk of thromboembolism. Proteus syndrome is a mosaic, progressive overgrowth disorder involving vasculature, skin, and skeleton, and c
Autor:
Leslie G. Biesecker, Leila Jamal, Holly L. Peay, Barbara B. Biesecker, Erin Turbitt, Benjamin S. Wilfond, Jennefer N. Kohler, Katie L. Lewis
BACKGROUND: Individual genome sequencing results are valued by patients in ways distinct from clinical utility. Such outcomes have been described as components of "personal utility," a concept that broadly encompasses patient-endorsed benefits, that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d032c8b4f6c5b9a9ab32118ab24670cf
https://hdl.handle.net/10453/156404
https://hdl.handle.net/10453/156404
Autor:
Danielle D. Brinckman, Kim M. Keppler-Noreuil, Julie C. Sapp, Leslie G. Biesecker, Jennifer J. Johnston, Edythe Wiggs, Catherine Blumhorst
Publikováno v:
American Journal of Medical Genetics Part A. 161:2964-2971
Forty-two patients with a clinical diagnosis of Bardet-Biedl syndrome ages 2-61 years were given a neuropsychological test battery to evaluate cognitive, sensory, and behavioral functioning. These tests included the Wechsler scales of intelligence, R
Autor:
Leslie G. Biesecker, Fleur S van Dijk, Jiddeke M. van de Kamp, Julie C. Sapp, R. Brian Lowry, Joyce T. Turner
Publikováno v:
American Journal of Medical Genetics Part A. :2944-2958
We present a series of seven patients who were previously diagnosed with Proteus syndrome, but who do not meet published diagnostic criteria for this disorder and whose natural history is distinct from that of Proteus syndrome. This newly recognized