Search Results - "Geer, Joseph"

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum by Keppler-Noreuil, Kim M., Sapp, Julie C., Lindhurst, Marjorie J., Parker, Victoria E.R., Blumhorst, Cathy, Darling, Thomas, Tosi, Laura L., Huson, Susan M., Whitehouse, Richard W., Jakkula, Eveliina, Grant, Ian, Balasubramanian, Meena, Chandler, Kate E., Fraser, Jamie L., Gucev, Zoran, Crow, Yanick J., Brennan, Leslie Manace, Clark, Robin, Sellars, Elizabeth A., Pena, Loren DM, Krishnamurty, Vidya, Shuen, Andrew, Braverman, Nancy, Cunningham, Michael L., Sutton, V. Reid, Tasic, Velibor, Graham Jr, John M., Geer Jr, Joseph, Henderson, Alex, Semple, Robert K., Biesecker, Leslie G.

“…Somatic mutations in the phosphatidylinositol/AKT/mTOR pathway cause segmental overgrowth disorders. Diagnostic descriptors associated with PIK3CA mutations…”
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Neurologic disorders in Medicaid vs privately insured children and working-age adults by Mateen, Farrah J, Geer, Joseph P, Frick, Kevin, Carone, Marco

“…This retrospective, observational study reports health utilization and access patterns of Medicaid recipients for neurologic diseases compared to privately…”
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Clinical utility of the X-chromosome array by Zarate, Yuri A., Dwivedi, Alka, Bartel, Frank O., Bellomo, M. Allison, Cathey, Sara S., Champaigne, Neena L., Clarkson, L. Kate, DuPont, Barbara R., Everman, David B., Geer, Joseph S., Gordon, Barbara C., Lichty, Angie W., Lyons, Michael J., Rogers, R. Curtis, Saul, Robert A., Schroer, Richard J., Skinner, Steven A., Stevenson, Roger E.

“…Previous studies have limited the use of specific X‐chromosome array designed platforms to the evaluation of patients with intellectual disability. In this…”
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Mucolipidosis Type IV: A Subtle Pediatric Neurodegenerative Disorder by Geer, Joseph S., MD, Skinner, Steve A., MD, Goldin, Ehud, PhD, Holden, Kenton R., MD

“…The mucolipidoses are a heterogeneous group of autosomal recessive neurodegenerative lysosomal storage disorders. Mucolipidosis type IV is rare; it is seen…”
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Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA by Lindhurst, Marjorie J, Parker, Victoria E R, Payne, Felicity, Sapp, Julie C, Rudge, Simon, Harris, Julie, Witkowski, Alison M, Zhang, Qifeng, Groeneveld, Matthijs P, Scott, Carol E, Daly, Allan, Huson, Susan M, Tosi, Laura L, Cunningham, Michael L, Darling, Thomas N, Geer, Joseph, Gucev, Zoran, Sutton, V Reid, Tziotzios, Christos, Dixon, Adrian K, Helliwell, Timothy, O'Rahilly, Stephen, Savage, David B, Wakelam, Michael J O, Barroso, Inês, Biesecker, Leslie G, Semple, Robert K

“…Leslie Biesecker and colleagues report an exome sequencing study identifying somatic activating mutations in PIK3CA as the cause of a new progressive segmental…”
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Vascular anastomoses leading to amelia and cutis aplasia in a dizygotic twin pregnancy by Phelan, Mary C, Geer, Joseph S, Blackburn, Will R

“…Dichorionic placentation is observed in both monozygotic (MZ) and dizygotic (DZ) twinning, while monochorionic placentation is unique to MZ twinning…”
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Phenotypic differences in African Americans with Prader-Willi syndrome by Hudgins, Louanne, Geer, Joseph S., Cassidy, Suzanne B.

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