184 related articles for article (PubMed ID: 24850616)
1. 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]
2. 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]
3. 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]
4. Molecular heterogeneity of the cerebriform connective tissue nevus in mosaic overgrowth syndromes.
Keppler-Noreuil KM; Burton-Akright J; Lindhurst MJ; Shwetar J; Sapp JC; Darling T; Biesecker LG
Cold Spring Harb Mol Case Stud; 2019 Aug; 5(4):. PubMed ID: 31371346
[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. Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma.
Modlin EW; Slavotinek AM; Darling TN; Lipkowitz S; Barr FG; Munster PN; Biesecker LG; Ours CA
Am J Med Genet A; 2022 Sep; 188(9):2766-2771. PubMed ID: 35441778
[TBL] [Abstract][Full Text] [Related]
7. Isolated plantar collagenoma not associated with Proteus syndrome.
Nelson AA; Ruben BS
J Am Acad Dermatol; 2008 Mar; 58(3):497-9. PubMed ID: 18280350
[TBL] [Abstract][Full Text] [Related]
8. Proteus Syndrome: Case Report with Anatomopathological Correlation.
Arredondo Montero J; Bronte Anaut M; López-Gutiérrez JC
Fetal Pediatr Pathol; 2022 Oct; 41(5):861-864. PubMed ID: 34668833
[No Abstract] [Full Text] [Related]
9. 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]
10. 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]
11. Proteus syndrome review: molecular, clinical, and pathologic features.
Cohen MM
Clin Genet; 2014 Feb; 85(2):111-9. PubMed ID: 23992099
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092).
Biesecker LG; Edwards M; O'Donnell S; Doherty P; MacDougall T; Tith K; Kazakin J; Schwartz B
Cold Spring Harb Mol Case Stud; 2020 Feb; 6(1):. PubMed ID: 32014856
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Dermatologic findings in individuals with genetically confirmed Proteus syndrome.
Pithadia DJ; Cartron AM; Biesecker LG; Darling TN
Pediatr Dermatol; 2021 Jul; 38(4):794-799. PubMed ID: 34105192
[TBL] [Abstract][Full Text] [Related]
17. Pathogenetic insights from quantification of the cerebriform connective tissue nevus in Proteus syndrome.
Nathan NR; Patel R; Crenshaw MM; Lindhurst MJ; Olsen C; Biesecker LG; Keppler-Noreuil KM; Darling TN
J Am Acad Dermatol; 2018 Apr; 78(4):725-732. PubMed ID: 29042227
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Monozygotic twins discordant for Proteus syndrome.
Brockmann K; Happle R; Oeffner F; König A
Am J Med Genet A; 2008 Aug; 146A(16):2122-5. PubMed ID: 18627057
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]