679 related articles for article (PubMed ID: 21793738)
1. A mosaic activating mutation in AKT1 associated with the Proteus syndrome.
Lindhurst MJ; Sapp JC; Teer JK; Johnston JJ; Finn EM; Peters K; Turner J; Cannons JL; Bick D; Blakemore L; Blumhorst C; Brockmann K; Calder P; Cherman N; Deardorff MA; Everman DB; Golas G; Greenstein RM; Kato BM; Keppler-Noreuil KM; Kuznetsov SA; Miyamoto RT; Newman K; Ng D; O'Brien K; Rothenberg S; Schwartzentruber DJ; Singhal V; Tirabosco R; Upton J; Wientroub S; Zackai EH; Hoag K; Whitewood-Neal T; Robey PG; Schwartzberg PL; Darling TN; Tosi LL; Mullikin JC; Biesecker LG
N Engl J Med; 2011 Aug; 365(7):611-9. PubMed ID: 21793738
[TBL] [Abstract][Full Text] [Related]
2. A limited form of proteus syndrome with bilateral plantar cerebriform collagenomas and varicose veins secondary to a mosaic AKT1 mutation.
Wee JS; Mortimer PS; Lindhurst MJ; Chong H; Biesecker LG; Holden CA
JAMA Dermatol; 2014 Sep; 150(9):990-3. PubMed ID: 24850616
[TBL] [Abstract][Full Text] [Related]
3. Hypertrichotic patches as a mosaic manifestation of Proteus syndrome.
Pithadia DJ; Roman JW; Sapp JC; Biesecker LG; Darling TN
J Am Acad Dermatol; 2021 Feb; 84(2):415-424. PubMed ID: 32035943
[TBL] [Abstract][Full Text] [Related]
4. Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses Proteus syndrome.
Schmidt J; Bremmer F; Brockmann K; Kaulfuß S; Wollnik B
Clin Genet; 2022 Sep; 102(3):239-241. PubMed ID: 35670639
[TBL] [Abstract][Full Text] [Related]
5. [A clinical study of Proteus syndrome caused by a mosaic somatic mutation in AKT1 gene].
Xu Y; Fu WZ; He JW; Yue H; Zhang ZL
Zhonghua Nei Ke Za Zhi; 2019 Jul; 58(7):508-513. PubMed ID: 31269567
[No Abstract] [Full Text] [Related]
6. Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes.
Abell K; Tolusso L; Smith N; Hopkin R; Vawter-Lee M; Habli M; Riddle S; Calvo-Garcia MA; Guan Q; Bierbrauer K; Hwa V; Saal HM
Birth Defects Res; 2020 Nov; 112(19):1733-1737. PubMed ID: 32935482
[TBL] [Abstract][Full Text] [Related]
7. Proteus syndrome: Report of a case with AKT1 mutation in a dental cyst.
Valéra MC; Vaysse F; Bieth E; Longy M; Cances C; Bailleul-Forestier I
Eur J Med Genet; 2015 May; 58(5):300-4. PubMed ID: 25782637
[TBL] [Abstract][Full Text] [Related]
8. High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome.
Wieland I; Tinschert S; Zenker M
Am J Med Genet A; 2013 Apr; 161A(4):889-91. PubMed ID: 23436452
[No Abstract] [Full Text] [Related]
9. Allelic heterogeneity of Proteus syndrome.
Buser A; Lindhurst MJ; Kondolf HC; Yourick MR; Keppler-Noreuil KM; Sapp JC; Biesecker LG
Cold Spring Harb Mol Case Stud; 2020 Jun; 6(3):. PubMed ID: 32327430
[TBL] [Abstract][Full Text] [Related]
10. Repression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome.
Lindhurst MJ; Yourick MR; Yu Y; Savage RE; Ferrari D; Biesecker LG
Sci Rep; 2015 Dec; 5():17162. PubMed ID: 26657992
[TBL] [Abstract][Full Text] [Related]
11. A mouse model of Proteus syndrome.
Lindhurst MJ; Brinster LR; Kondolf HC; Shwetar JJ; Yourick MR; Shiferaw H; Keppler-Noreuil KM; Elliot G; Rivas C; Garrett L; Gomez-Rodriguez J; Sebire NJ; Hewitt SM; Schwartzberg PL; Biesecker LG
Hum Mol Genet; 2019 Sep; 28(17):2920-2936. PubMed ID: 31194862
[TBL] [Abstract][Full Text] [Related]
12. Mutant AKT1 in Proteus syndrome.
Marsh DJ; Trahair TN; Kirk EP
N Engl J Med; 2011 Dec; 365(22):2141-2; author reply 2142. PubMed ID: 22129268
[No Abstract] [Full Text] [Related]
13. Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.
Chang F; Liu L; Fang E; Zhang G; Chen T; Cao K; Li Y; Li MM
J Mol Diagn; 2017 Jul; 19(4):613-624. PubMed ID: 28502725
[TBL] [Abstract][Full Text] [Related]
14. First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma.
Leoni C; Gullo G; Resta N; Fagotti A; Onesimo R; Schwartz B; Kazakin J; Abbadessa G; Crown J; Collins CD; Ranieri C; Scambia G; Zampino G
Am J Med Genet A; 2019 Jul; 179(7):1319-1324. PubMed ID: 31058421
[TBL] [Abstract][Full Text] [Related]
15. Lack of mutation-histopathology correlation in a patient with Proteus syndrome.
Doucet ME; Bloomhardt HM; Moroz K; Lindhurst MJ; Biesecker LG
Am J Med Genet A; 2016 Jun; 170(6):1422-1432. PubMed ID: 27112325
[TBL] [Abstract][Full Text] [Related]
16. Misaligned foveal morphology and sector retinal dysfunction in AKT1-mosaic Proteus syndrome.
Marmoy OR; Kinsler VA; Henderson RH; Handley SE; Moore W; Thompson DA
Doc Ophthalmol; 2021 Feb; 142(1):119-126. PubMed ID: 32617723
[TBL] [Abstract][Full Text] [Related]
17. Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.
Nathan N; Keppler-Noreuil KM; Biesecker LG; Moss J; Darling TN
Dermatol Clin; 2017 Jan; 35(1):51-60. PubMed ID: 27890237
[TBL] [Abstract][Full Text] [Related]
18. Proteus syndrome caused by novel somatic AKT1 duplication.
AlAnzi T; Al-Mashharawi E; Alhashem A
Saudi Med J; 2021 Jan; 42(1):95-99. PubMed ID: 33399177
[TBL] [Abstract][Full Text] [Related]
19. Severe gynaecological involvement in Proteus Syndrome.
Severino-Freire M; Maza A; Kuentz P; Duffourd Y; Faivre L; Brazet E; Chassaing N; Mery-Lemarche E; Vabres P; Mazereeuw-Hautier J
Eur J Med Genet; 2019 Apr; 62(4):270-272. PubMed ID: 30103035
[TBL] [Abstract][Full Text] [Related]
20. Somatic AKT1 mutations cause meningiomas colocalizing with a characteristic pattern of cranial hyperostosis.
Keppler-Noreuil KM; Baker EH; Sapp JC; Lindhurst MJ; Biesecker LG
Am J Med Genet A; 2016 Oct; 170(10):2605-10. PubMed ID: 27550858
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
