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4. 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]
5. 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]
6. 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]
7. [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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. A dyadic genotype-phenotype approach to diagnostic criteria for Proteus syndrome. Sapp JC; Buser A; Burton-Akright J; Keppler-Noreuil KM; Biesecker LG Am J Med Genet C Semin Med Genet; 2019 Dec; 181(4):565-570. PubMed ID: 31692258 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. 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]
19. A case of Proteus syndrome with lateral embryonal vein and frontal intraosseous lipoma. Taghinia AH; Mulliken JB; Rogers GF Cleft Palate Craniofac J; 2007 Sep; 44(5):567-71. PubMed ID: 17760489 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]