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Journal Abstract Search
375 related items for PubMed ID: 29493003
21. 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 [Abstract] [Full Text] [Related]
23. PIK3CA vascular overgrowth syndromes: an update. Hughes M, Hao M, Luu M. Curr Opin Pediatr; 2020 Aug; 32(4):539-546. PubMed ID: 32692051 [Abstract] [Full Text] [Related]
24. What's New in Genetic Skin Diseases. Hill CR, Theos A. Dermatol Clin; 2019 Apr; 37(2):229-239. PubMed ID: 30850045 [Abstract] [Full Text] [Related]
25. 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 01; 158(1):18. PubMed ID: 34074347 [Abstract] [Full Text] [Related]
26. What is your diagnosis? Panteliades M, Silva CM, Gontijo B. An Bras Dermatol; 2016 Jun 01; 91(3):378-80. PubMed ID: 27438212 [Abstract] [Full Text] [Related]
27. Cloves syndrome: a case report and perinatal diagnostic findings. Puvabanditsin S, Memon N, Chekmareva M, Di Stefano V, Mehta R. Genet Couns; 2014 Jun 01; 25(3):265-70. PubMed ID: 25365848 [Abstract] [Full Text] [Related]
28. Pulmonary thromboembolic events in patients with congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal abnormalities and Klippel-Trénaunay syndrome. Reis J, Alomari AI, Trenor CC, Adams DM, Fishman SJ, Spencer SA, Shaikh R, Lillis AP, Surnedi MK, Chaudry G. J Vasc Surg Venous Lymphat Disord; 2018 Jul 01; 6(4):511-516. PubMed ID: 29909856 [Abstract] [Full Text] [Related]
29. Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum. Yeung KS, Ip JJ, Chow CP, Kuong EY, Tam PK, Chan GC, Chung BH. Am J Med Genet A; 2017 Apr 01; 173(4):978-984. PubMed ID: 28328134 [Abstract] [Full Text] [Related]
31. 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 07; 17(1):189. PubMed ID: 35526022 [Abstract] [Full Text] [Related]
32. [CLOVES syndrome: a malformational syndrome closely resembling Proteus syndrome]. Guillet A, Aubert H, Tessier MH, David A, Perret C, Penhoat M, Stalder JF, Barbarot S. Ann Dermatol Venereol; 2014 May 07; 141(8-9):507-13. PubMed ID: 25209813 [Abstract] [Full Text] [Related]
33. 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 07; 167A(2):287-95. PubMed ID: 25557259 [Abstract] [Full Text] [Related]
34. 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 19; 44(1):110. PubMed ID: 30231930 [Abstract] [Full Text] [Related]
35. Wilms tumor screening in diffuse capillary malformation with overgrowth and macrocephaly-capillary malformation: A retrospective study. Peterman CM, Vadeboncoeur S, Mulliken JB, Fishman SJ, Liang MG. J Am Acad Dermatol; 2017 Nov 19; 77(5):874-878. PubMed ID: 28822558 [Abstract] [Full Text] [Related]
37. Four-month-old with severe PIK3CA-related overgrowth spectrum disorder successfully treated with alpelisb. Cossio ML, Rodríguez J, Flores JC, De Barbieri F, Flores Á, Marín J, Florin C, Cuevas F, Gutiérrez M. Pediatr Dermatol; 2024 Aug 19; 41(4):714-717. PubMed ID: 38444084 [Abstract] [Full Text] [Related]
38. Clinical overlap between CLAPO syndrome and macrocephaly-capillary malformation syndrome. Ivars M, Boixeda P, Triana P, Martinez-Glez V, Rodríguez-Laguna L, Agra N, López-Gutiérrez JC. J Dtsch Dermatol Ges; 2020 May 19; 18(5):479-482. PubMed ID: 32413215 [No Abstract] [Full Text] [Related]
39. Cerebellar dysplasia related to PIK3CA mutation: a three-case series. Di Stasi M, Izzo G, Cattaneo E, Baraldini V, Doneda C, Righini A, Graziani D, Toto V, Parazzini C. Neurogenetics; 2021 Mar 19; 22(1):27-32. PubMed ID: 32901329 [Abstract] [Full Text] [Related]
40. Alpelisib Treatment for Genital Vascular Malformation in a Patient with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Spinal/Skeletal Anomalies and/or Scoliosis (CLOVES) Syndrome. López Gutiérrez JC, Lizarraga R, Delgado C, Martínez Urrutia MJ, Díaz M, Miguel M, Triana P. J Pediatr Adolesc Gynecol; 2019 Dec 19; 32(6):648-650. PubMed ID: 31330249 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]