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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1995 1
1996 1
2002 1
2004 2
2005 1
2007 2
2008 2
2010 1
2013 1
2017 1
2018 2
2019 4
2020 1
2021 3
2022 2
2024 0

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24 results

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Page 1
Vascular malformations syndromes: an update.
Martinez-Lopez A, Salvador-Rodriguez L, Montero-Vilchez T, Molina-Leyva A, Tercedor-Sanchez J, Arias-Santiago S. Martinez-Lopez A, et al. Curr Opin Pediatr. 2019 Dec;31(6):747-753. doi: 10.1097/MOP.0000000000000812. Curr Opin Pediatr. 2019. PMID: 31693582 Review.
CLOVES syndrome and Klippel-Trenaunay syndrome are PROS disease. Proteus syndrome is an overgrowth syndrome caused by a somatic activating mutation in AKT1. ...
CLOVES syndrome and Klippel-Trenaunay syndrome are PROS disease. Proteus syndrome is an overgrowth syndrome caused by a somati …
What's New in Genetic Skin Diseases.
Hill CR, Theos A. Hill CR, et al. Dermatol Clin. 2019 Apr;37(2):229-239. doi: 10.1016/j.det.2018.11.004. Dermatol Clin. 2019. PMID: 30850045 Review.
Vascular anomalies in Proteus syndrome.
Hoeger PH, Martinez A, Maerker J, Harper JI. Hoeger PH, et al. Clin Exp Dermatol. 2004 May;29(3):222-30. doi: 10.1111/j.1365-2230.2004.01513.x. Clin Exp Dermatol. 2004. PMID: 15115498 Review.
Proteus syndrome (PS) is a complex hamartomatous disorder defined by local overgrowth (macrodactyly or hemihypertrophy), subcutaneous tumours and various bone, cutaneous and/or vascular anomalies (VA). ...In order to further characterize PS, we studied the prevalenc …
Proteus syndrome (PS) is a complex hamartomatous disorder defined by local overgrowth (macrodactyly or hemihypertrophy), subcu …
Phenotypic Features of Cystic Lung Disease in Proteus Syndrome: A Clinical Trial.
Keppler-Noreuil KM, Burton-Akright J, Kleiner DE, Sapp JC, Lindhurst MJ, Han CG, Biesecker LG, Gochuico BR. Keppler-Noreuil KM, et al. Ann Am Thorac Soc. 2022 Nov;19(11):1871-1880. doi: 10.1513/AnnalsATS.202111-1214OC. Ann Am Thorac Soc. 2022. PMID: 35839129 Free PMC article.
Objectives: To define the phenotype of cystic lung disease in Proteus syndrome. Methods: Medical records, pulmonary function tests, and chest computed tomography of 39 individuals with Proteus syndrome evaluated at a single center were retrospectively …
Objectives: To define the phenotype of cystic lung disease in Proteus syndrome. Methods: Medical records, pulmonary function t …
Dual identities.
Pearson H. Pearson H. Nature. 2002 May 2;417(6884):10-1. doi: 10.1038/417010a. Nature. 2002. PMID: 11986637 No abstract available.
Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway.
Akgumus G, Chang F, Li MM. Akgumus G, et al. J Mol Diagn. 2017 Jul;19(4):487-497. doi: 10.1016/j.jmoldx.2017.04.001. Epub 2017 May 11. J Mol Diagn. 2017. PMID: 28502730 Free article. Review.
Mosaic somatic variants have been lately described in several overgrowth disorders, such as Proteus syndrome, CLOVES (congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal anomalies and/or scoliosis) syndrome, and megalencep …
Mosaic somatic variants have been lately described in several overgrowth disorders, such as Proteus syndrome, CLOVES (congenit …
Proteus syndrome caused by novel somatic AKT1 duplication.
AlAnzi T, Al-Mashharawi E, Alhashem A. AlAnzi T, et al. Saudi Med J. 2021 Jan;42(1):95-99. doi: 10.15537/smj.2021.1.25618. Saudi Med J. 2021. PMID: 33399177 Free PMC article.
Proteus syndrome (PS) is a rare overgrowth disorder that presents with asymmetrical growth of the bone and fat tissues following a mosaic pattern mutation. The estimated worldwide incidence is approximately one in one million live births. Proteus syndrome …
Proteus syndrome (PS) is a rare overgrowth disorder that presents with asymmetrical growth of the bone and fat tissues followi …
Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome.
Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Darling TN, Burton-Akright J, Bagheri M, Dombi E, Gruber A, Jarosinski PF, Martin S, Nathan N, Paul SM, Savage RE, Wolters PL, Schwartz B, Widemann BC, Biesecker LG. Keppler-Noreuil KM, et al. Am J Hum Genet. 2019 Mar 7;104(3):484-491. doi: 10.1016/j.ajhg.2019.01.015. Epub 2019 Feb 22. Am J Hum Genet. 2019. PMID: 30803705 Free PMC article. Clinical Trial.
Proteus syndrome is a life-threatening segmental overgrowth syndrome caused by a mosaic gain-of-function AKT1 variant. ...We designed a non-randomized, phase 0/1 pilot study of miransertib in adults and children with Proteus syndrome to identify …
Proteus syndrome is a life-threatening segmental overgrowth syndrome caused by a mosaic gain-of-function AKT1 variant. ...We d …
Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome.
Forde K, Resta N, Ranieri C, Rea D, Kubassova O, Hinton M, Andrews KA, Semple R, Irvine AD, Dvorakova V. Forde K, et al. Orphanet J Rare Dis. 2021 Feb 27;16(1):109. doi: 10.1186/s13023-021-01745-0. Orphanet J Rare Dis. 2021. PMID: 33639990 Free PMC article. Clinical Trial.
Miransertib (ARQ 092) is a novel, orally available, selective pan-AKT inhibitor with proven in vitro efficacy. Following recent results of the use of AKT inhibitors in Proteus syndrome (PS) and AKT-mutant cancers, we investigated its therapeutic use in two patients …
Miransertib (ARQ 092) is a novel, orally available, selective pan-AKT inhibitor with proven in vitro efficacy. Following recent results of t …
Critical issues in pediatric lung transplantation.
Armitage JM, Kurland G, Michaels M, Cipriani LA, Griffith BP, Fricker FJ. Armitage JM, et al. J Thorac Cardiovasc Surg. 1995 Jan;109(1):60-4; discussion 64-5. doi: 10.1016/S0022-5223(95)70420-5. J Thorac Cardiovasc Surg. 1995. PMID: 7815808 Free article.
The indications for transplantation have been diverse, primary pulmonary hypertension (10), cystic fibrosis (11), congenital heart disease (10), arteriovenous malformation (3), emphysema (1), graft-versus-host disease (1), rheumatoid lung (1), cardiomyopathy (1), desquamative int …
The indications for transplantation have been diverse, primary pulmonary hypertension (10), cystic fibrosis (11), congenital heart disease ( …
24 results