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A Limited Form of Proteus Syndrome With Bilateral Plantar Cerebriform Collagenomas and Varicose Veins Secondary to a Mosaic AKT1 Mutation.
Published in:
JAMA Dermatology, 2014, v. 150, n. 9, p. 990, doi. 10.1001/jamadermatol.2013.10368
By:
- Wee, Jamie S.;
- Mortimer, Peter S.;
- Lindhurst, Marjorie J.;
- Heung Chong;
- Biesecker, Leslie G.;
- Holden, Colin A.
Publication type:
Article
Phenotypic Features of Cystic Lung Disease in Proteus Syndrome: A Clinical Trial.
Published in:
Annals of the American Thoracic Society, 2022, v. 19, n. 11, p. 1871, doi. 10.1513/AnnalsATS.202111-1214OC
By:
- Keppler-Noreuil, Kim M.;
- Burton-Akright, Jasmine;
- Kleiner, David E.;
- Sapp, Julie C.;
- Lindhurst, Marjorie J.;
- Han, Chen G.;
- Biesecker, Leslie G.;
- Gochuico, Bernadette R.
Publication type:
Article
Somatic AKT1 mutations cause meningiomas colocalizing with a characteristic pattern of cranial hyperostosis.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2605, doi. 10.1002/ajmg.a.37737
By:
- Keppler‐Noreuil, Kim M.;
- Baker, Eva H.;
- Sapp, Julie C.;
- Lindhurst, Marjorie J.;
- Biesecker, Leslie G.
Publication type:
Article
Lack of mutation-histopathology correlation in a patient with Proteus syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1422, doi. 10.1002/ajmg.a.37612
By:
- Doucet, Meggie E.;
- Bloomhardt, Hadley M.;
- Moroz, Krzysztof;
- Lindhurst, Marjorie J.;
- Biesecker, Leslie G.
Publication type:
Article
PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 287, doi. 10.1002/ajmg.a.36836
By:
- Keppler‐Noreuil, Kim M.;
- Rios, Jonathan J.;
- Parker, Victoria E.R.;
- Semple, Robert K.;
- Lindhurst, Marjorie J.;
- Sapp, Julie C.;
- Alomari, Ahmad;
- Ezaki, Marybeth;
- Dobyns, William;
- Biesecker, Leslie G.
Publication type:
Article
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1713, doi. 10.1002/ajmg.a.36552
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
Publication type:
Article
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.
Published in:
Nature Genetics, 2012, v. 44, n. 8, p. 928, doi. 10.1038/ng.2332
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
Publication type:
Article
AKT1 Gene Mutation Levels Are Correlated with the Type of Dermatologic Lesions in Patients with Proteus Syndrome.
Published in:
Journal of Investigative Dermatology, 2014, v. 134, n. 2, p. 543, doi. 10.1038/jid.2013.312
By:
- Lindhurst, Marjorie J;
- Wang, Ji-an;
- Bloomhardt, Hadley M;
- Witkowski, Alison M;
- Singh, Larry N;
- Bick, David P;
- Gambello, Michael J;
- Powell, Cynthia M;
- Lee, Chyi-Chia Richard;
- Darling, Thomas N;
- Biesecker, Leslie G
Publication type:
Article
Ubiquitous expression of Akt1 p.(E17K) results in vascular defects and embryonic lethality in mice.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 20, p. 3350, doi. 10.1093/hmg/ddaa216
By:
- Lindhurst, Marjorie J;
- Li, Wenling;
- Laughner, Nathaniel;
- Shwetar, Jasmine J;
- Kondolf, Hannah C;
- Ma, Xuefei;
- Mukouyama, Yoh-suke;
- Biesecker, Leslie G
Publication type:
Article
A mouse model of Proteus syndrome.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 17, p. 2920, doi. 10.1093/hmg/ddz116
By:
- Lindhurst, Marjorie J;
- Brinster, Lauren R;
- Kondolf, Hannah C;
- Shwetar, Jasmine J;
- Yourick, Miranda R;
- Shiferaw, Henoke;
- Keppler-Noreuil, Kim M;
- Elliot, Gene;
- Rivas, Cecilia;
- Garrett, Lisa;
- Gomez-Rodriguez, Julio;
- Sebire, Neil J;
- Hewitt, Stephen M;
- Schwartzberg, Pamela L;
- Biesecker, Leslie G
Publication type:
Article
Allelic heterogeneity of Proteus syndrome.
Published in:
Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005181
By:
- Buser, Anna;
- Lindhurst, Marjorie J.;
- Kondolf, Hannah C.;
- Yourick, Miranda R.;
- Keppler-Noreuil, Kim M.;
- Sapp, Julie C.;
- Biesecker, Leslie G.
Publication type:
Article

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