186 related articles for article (PubMed ID: 30346092)
1. Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndrome.
Takyar V; Khattar D; Ling A; Patel R; Sapp JC; Kim SA; Auh S; Biesecker LG; Keppler-Noreuil KM; Heller T
Am J Med Genet A; 2018 Dec; 176(12):2677-2684. PubMed ID: 30346092
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. [A young patient with portal and mesenteric vein thrombosis and Proteus syndrome].
Staub P; Schmid K; Huber AR
Praxis (Bern 1994); 2006 May; 95(21):859-61. PubMed ID: 16758842
[TBL] [Abstract][Full Text] [Related]
4. Giant umbilical cord and hypoglycemia in an infant with Proteus syndrome.
Saito T; Nakane T; Narusawa M; Yagasaki H; Nemoto A; Naito A; Sugita K
Am J Med Genet A; 2018 May; 176(5):1222-1224. PubMed ID: 29681107
[TBL] [Abstract][Full Text] [Related]
5. [Quantitative assessment of hepatic and splenic blood flow status in patients with hypersplenism of different degrees based on multi-slice spiral CT whole-liver perfusion imaging].
Gao YJ; Gao ZL; Sun WJ; Qiu HJ; Deng L; Ren T; Yang GH; Chen Y
Zhonghua Gan Zang Bing Za Zhi; 2020 Apr; 28(4):326-331. PubMed ID: 32403885
[No Abstract] [Full Text] [Related]
6. Thrombosis risk factors in PIK3CA-related overgrowth spectrum and Proteus syndrome.
Keppler-Noreuil KM; Lozier J; Oden N; Taneja A; Burton-Akright J; Sapp JC; Biesecker LG
Am J Med Genet C Semin Med Genet; 2019 Dec; 181(4):571-581. PubMed ID: 31490637
[TBL] [Abstract][Full Text] [Related]
7. Radiologic manifestations of Proteus syndrome.
Jamis-Dow CA; Turner J; Biesecker LG; Choyke PL
Radiographics; 2004; 24(4):1051-68. PubMed ID: 15256628
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. [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]
10. Characterization of thrombosis in patients with Proteus syndrome.
Keppler-Noreuil KM; Lozier JN; Sapp JC; Biesecker LG
Am J Med Genet A; 2017 Sep; 173(9):2359-2365. PubMed ID: 28627093
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Early Recognition of Proteus Syndrome.
Rodenbeck DL; Greyling LA; Anderson JH; Davis LS
Pediatr Dermatol; 2016 Sep; 33(5):e306-10. PubMed ID: 27378680
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Congenital portosystemic venous connections and other abdominal venous abnormalities in patients with polysplenia and functionally univentricular heart disease: a case series and literature review.
McElhinney DB; Marx GR; Newburger JW
Congenit Heart Dis; 2011; 6(1):28-40. PubMed ID: 21269410
[TBL] [Abstract][Full Text] [Related]
15. CT perfusion imaging of the liver and the spleen in patients with cirrhosis: Is there a correlation between perfusion and portal venous hypertension?
Talakić E; Schaffellner S; Kniepeiss D; Mueller H; Stauber R; Quehenberger F; Schoellnast H
Eur Radiol; 2017 Oct; 27(10):4173-4180. PubMed ID: 28321540
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Non-cirrhotic portal fibrosis (idiopathic portal hypertension): experience with 151 patients and a review of the literature.
Dhiman RK; Chawla Y; Vasishta RK; Kakkar N; Dilawari JB; Trehan MS; Puri P; Mitra SK; Suri S
J Gastroenterol Hepatol; 2002 Jan; 17(1):6-16. PubMed ID: 11895549
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
