500 related articles for article (PubMed ID: 28577738)
1. [PIK3CA-related overgrowth syndrome (PROS)].
Venot Q; Canaud G
Nephrol Ther; 2017 Apr; 13 Suppl 1():S155-S156. PubMed ID: 28577738
[TBL] [Abstract][Full Text] [Related]
2. CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS).
Martinez-Lopez A; Blasco-Morente G; Perez-Lopez I; Herrera-Garcia JD; Luque-Valenzuela M; Sanchez-Cano D; Lopez-Gutierrez JC; Ruiz-Villaverde R; Tercedor-Sanchez J
Clin Genet; 2017 Jan; 91(1):14-21. PubMed ID: 27426476
[TBL] [Abstract][Full Text] [Related]
3. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
Keppler-Noreuil KM; Rios JJ; Parker VE; Semple RK; Lindhurst MJ; Sapp JC; Alomari A; Ezaki M; Dobyns W; Biesecker LG
Am J Med Genet A; 2015 Feb; 167A(2):287-95. PubMed ID: 25557259
[TBL] [Abstract][Full Text] [Related]
4. PIK3CA vascular overgrowth syndromes: an update.
Hughes M; Hao M; Luu M
Curr Opin Pediatr; 2020 Aug; 32(4):539-546. PubMed ID: 32692051
[TBL] [Abstract][Full Text] [Related]
5. In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).
Ranieri C; Di Tommaso S; Loconte DC; Grossi V; Sanese P; Bagnulo R; Susca FC; Forte G; Peserico A; De Luisi A; Bartuli A; Selicorni A; Melis D; Lerone M; Praticò AD; Abbadessa G; Yu Y; Schwartz B; Ruggieri M; Simone C; Resta N
Neurogenetics; 2018 May; 19(2):77-91. PubMed ID: 29549527
[TBL] [Abstract][Full Text] [Related]
6. Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report.
Denorme P; Morren MA; Hollants S; Spaepen M; Suaer K; Zutterman N; Labarque V; Legius E; Brems H
Pediatr Dermatol; 2018 May; 35(3):e186-e188. PubMed ID: 29493003
[TBL] [Abstract][Full Text] [Related]
7. Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
de Kock L; Cuillerier A; Gillespie M; Couse M; Hartley T; Mears W; Bernier FP; Chudley AE; Frosk P; Nikkel SM; Innes AM; Lauzon J; Thomas M; Guerin A; Armour CM; Weksberg R; Scott JN; Watkins D; Harvey S; Cytrynbaum C; ; Kernohan KD; Boycott KM
Am J Med Genet A; 2024 Mar; 194(3):e63466. PubMed ID: 37949664
[TBL] [Abstract][Full Text] [Related]
8. Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
Keppler-Noreuil KM; Sapp JC; Lindhurst MJ; Parker VE; Blumhorst C; Darling T; Tosi LL; Huson SM; Whitehouse RW; Jakkula E; Grant I; Balasubramanian M; Chandler KE; Fraser JL; Gucev Z; Crow YJ; Brennan LM; Clark R; Sellars EA; Pena LD; Krishnamurty V; Shuen A; Braverman N; Cunningham ML; Sutton VR; Tasic V; Graham JM; Geer J; Henderson A; Semple RK; Biesecker LG
Am J Med Genet A; 2014 Jul; 164A(7):1713-33. PubMed ID: 24782230
[TBL] [Abstract][Full Text] [Related]
9. Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.
Loconte DC; Grossi V; Bozzao C; Forte G; Bagnulo R; Stella A; Lastella P; Cutrone M; Benedicenti F; Susca FC; Patruno M; Varvara D; Germani A; Chessa L; Laforgia N; Tenconi R; Simone C; Resta N
PLoS One; 2015; 10(4):e0123092. PubMed ID: 25915946
[TBL] [Abstract][Full Text] [Related]
10. Vascular malformations syndromes: an update.
Martinez-Lopez A; Salvador-Rodriguez L; Montero-Vilchez T; Molina-Leyva A; Tercedor-Sanchez J; Arias-Santiago S
Curr Opin Pediatr; 2019 Dec; 31(6):747-753. PubMed ID: 31693582
[TBL] [Abstract][Full Text] [Related]
11. Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).
Vahidnezhad H; Youssefian L; Uitto J
Exp Dermatol; 2016 Jan; 25(1):17-9. PubMed ID: 26268729
[TBL] [Abstract][Full Text] [Related]
12. Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes.
Emrick LT; Murphy L; Shamshirsaz AA; Ruano R; Cassady CI; Liu L; Chang F; Sutton VR; Li M; Van den Veyver IB
Am J Med Genet A; 2014 Oct; 164A(10):2633-7. PubMed ID: 25044986
[TBL] [Abstract][Full Text] [Related]
13. Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum.
Michel ME; Konczyk DJ; Yeung KS; Murillo R; Vivero MP; Hall AM; Zurakowski D; Adams D; Gupta A; Huang AY; Chung BHY; Warman ML
Clin Genet; 2018 May; 93(5):1075-1080. PubMed ID: 29231959
[TBL] [Abstract][Full Text] [Related]
14. Mapping the PIK3CA-related overgrowth spectrum (PROS) patient and caregiver journey using a patient-centered approach.
Rodríguez-Laguna L; Davis K; Finger M; Aubel D; Vlamis R; Johnson C
Orphanet J Rare Dis; 2022 May; 17(1):189. PubMed ID: 35526022
[TBL] [Abstract][Full Text] [Related]
15. A case of congenital lipomatous overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies and/or scoliosis syndrome with lipoatrophy as an important clinical manifestation.
Schreiber A; Grenier PO; Auger I
Pediatr Dermatol; 2017 Nov; 34(6):735-736. PubMed ID: 28833506
[TBL] [Abstract][Full Text] [Related]
16. Somatic frameshift mutation in PIK3CA causes CLOVES syndrome by provoking PI3K/AKT/mTOR pathway.
Yan W; Zhang B; Wang H; Mo R; Jiang X; Qin W; Ma L; Lin Z
Hereditas; 2021 Jun; 158(1):18. PubMed ID: 34074347
[TBL] [Abstract][Full Text] [Related]
17. Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene.
Maguolo A; Antoniazzi F; Spano A; Fiorini E; Gaudino R; Mauro M; Cantalupo G; Biban P; Maitz S; Cavarzere P
Ital J Pediatr; 2018 Sep; 44(1):110. PubMed ID: 30231930
[TBL] [Abstract][Full Text] [Related]
18. The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS).
Suzuki Y; Enokido Y; Yamada K; Inaba M; Kuwata K; Hanada N; Morishita T; Mizuno S; Wakamatsu N
Oncotarget; 2017 Jul; 8(28):45470-45483. PubMed ID: 28525374
[TBL] [Abstract][Full Text] [Related]
19. Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.
Brouillard P; Schlögel MJ; Homayun Sepehr N; Helaers R; Queisser A; Fastré E; Boutry S; Schmitz S; Clapuyt P; Hammer F; Dompmartin A; Weitz-Tuoretmaa A; Laranne J; Pasquesoone L; Vilain C; Boon LM; Vikkula M
Orphanet J Rare Dis; 2021 Jun; 16(1):267. PubMed ID: 34112235
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
