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Author/Creator McKinnon, Margaret L.

1. Growth hormone deficiency in megalencephaly‐capillary malformation syndrome: An association with activating mutations in PIK3CA. Issue 1 (15th November 2019)

Authors:
Davis, Shanlee; Ware, Meredith A.; Zeiger, Jordan; Deardorff, Matthew A.; Grand, Katheryn; Grimberg, Adda; Hsu, Stephanie; Kelsey, Megan; Majidi, Shideh; Matthew, Revi P.; Napier, Melanie; Nokoff, Natalie; Prasad, Chitra; Riggs, Andrew C.; McKinnon, Margaret L.; Mirzaa, Ghayda
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 1(2020)
Page Start:
162
Record Type:
Journal Article
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2. Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy. Issue 3 (8th January 2016)

Authors:
Brodehl, Andreas; Ferrier, Raechel A.; Hamilton, Sara J.; Greenway, Steven C.; Brundler, Marie‐Anne; Yu, Weiming; Gibson, William T.; McKinnon, Margaret L.; McGillivray, Barbara; Alvarez, Nanette; Giuffre, Michael; Schwartzentruber, Jeremy; Gerull, Brenda
Journal:
Human mutation
Issue:
Volume 37:Issue 3(2016)
Page Start:
269
Record Type:
Journal Article
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3. Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis. Issue 9 (5th June 2014)

Authors:
Cohen, Ana S. A.; Townsend, Katelin N.; Xiang, Qing‐San; Attariwala, Raj; Borchers, Christof; Senger, Christof; Picker, Wayne; Levi, Jasna; Yewchuk, Lila; Tan, Joelle; Eydoux, Patrice; Lum, Amy; Yong, Siu‐Li; McKinnon, Margaret L.; Lear, Scott A.; Everett, Robert; Jones, Steven J. M.; Yip, Stephe...
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 9(2014.)
Page Start:
2360
Record Type:
Journal Article
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4. Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro. Issue 3 (12th January 2016)

Authors:
Cohen, Ana S.A.; Yap, Damian B.; Lewis, M.E. Suzanne; Chijiwa, Chieko; Ramos‐Arroyo, Maria A.; Tkachenko, Natália; Milano, Valentina; Fradin, Mélanie; McKinnon, Margaret L.; Townsend, Katelin N.; Xu, Jieqing; Van Allen, M.I.; Ross, Colin J.D.; Dobyns, William B.; Weaver, David D.; Gibson, William T.
Journal:
Human mutation
Issue:
Volume 37:Issue 3(2016)
Page Start:
301
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗