William Wilcox

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Email: william.wilcox@emory.edu

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SOM: Hum Gen: Admin

School Of Medicine

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Works 1-10 of 15

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Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death

by Yuan Xue; Benedikt Schoser; Aliz R. Rao; Roberto Quadrelli; Alicia Vaglio; Verena Rupp; Christine Beichler; Stanley F. Nelson; Gudrun Schapacher-Tilp; Christian Windpassinger; William Wilcox



Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges

by Deborah Krakow; Daniel H. Cohn; William Wilcox; Grace J. Noh; Leslie J. Raffel; Anna Sarukhanov; Margarita H. Ivanova; Moise Danielpour; Dorothy K. Grange; Alison M. Elliott; Jonathan A. Bernstein; David L. Rimoin; Amy E. Merrill; Ralph S. Lachman



Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

by Dominique P. Germain; Joel Charrow; Robert J. Desnick; Nathalie Guffon; Judy Kempf; Robin H. Lachmann; Roberta Lemay; Gabor E. Linthorst; Seymour Packman; C. Ronald Scott; Stephen Waldek; David G. Warnock; Neal J. Weinreb; William Wilcox



Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

by Derralynn A Hughes; Kathleen Nicholls; Suma Shankar; Gere Sunder-Plassmann; David Koeller; Khan Nedd; Gerard Vockley; Takashi Hamazaki; Robin Lachmann; Toya Ohashi; Iacopo Olivotto; Norio Sakai; Patrick Deegan; David Dimmock; François Eyskens; Dominique P. Germain; Ozlem Goker-Alpan; Eric Hachulla; Ana Jovanovic; Charles M Lourenco; Ichiei Narita; William Wilcox



FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry

by Yuan Xue; Angela Sun; P Betty Mekikian; Jorge Martin; David L Rimoin; Ralph S Lachman; William Wilcox



Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy

by David G Warnock; Christie P Thomas; Bojan Vujkovac; Ruth C Campbell; Joel Charrow; Dawn Laney; Leslie L Jackson; William Wilcox; Christoph Wanner



Analysis of STAT1 Activation by Six FGFR3 Mutants Associated with Skeletal Dysplasia Undermines Dominant Role of STAT1 in FGFR3 Signaling in Cartilage

by Pavel Krejci; Lisa Salazar; Tamara A. Kashiwada; Katarina Chlebova; Alena Salasova; Leslie Michels Thompson; Vitezslav Bryja; Alois Kozubik; William R. Wilcox



Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy

by Raphael Schiffmann; David G. Warnock; Maryam Banikazemi; Jan Bultas; Gabor E. Linthorst; Seymour Packman; Sven Asger Sorensen; William R. Wilcox; Robert J. Desnick