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Journal Abstract Search

160 related items for PubMed ID: 35829859

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  • 3. 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
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  • 5. 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
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  • 7. A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trials.
    Burton BK, Skalicky A, Baerwald C, Bilder DA, Harding CO, Ilan AB, Jurecki E, Longo N, Madden DT, Sivri HS, Wilcox G, Thomas J, Delaney K.
    Mol Genet Metab Rep; 2021 Dec 07; 29():100810. PubMed ID: 34815941
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  • 8. Response to sirolimus in capillary lymphatic venous malformations and associated syndromes: Impact on symptomatology, quality of life, and radiographic response.
    Engel ER, Hammill A, Adams D, Phillips RJ, Jeng M, Tollefson MM, Iacobas I, Schiff D, Greenberger S, Kelly M, Frieden I, Zaghloul N, Drolet B, Geddis A, Goldenberg D, Ricci K.
    Pediatr Blood Cancer; 2023 Apr 07; 70(4):e30215. PubMed ID: 36651691
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  • 9. 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, Care4Rare Canada ConsortiumChildren's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Kernohan KD, Boycott KM.
    Am J Med Genet A; 2024 Mar 07; 194(3):e63466. PubMed ID: 37949664
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  • 11. 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 07; 91(1):14-21. PubMed ID: 27426476
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  • 13. Assessing asthma symptoms in children: qualitative research supporting the development of the Pediatric Asthma Diary-Child (PAD-C) and Pediatric Asthma Diary-Observer (PAD-O).
    Bradley H, Trennery C, Jones AM, Lydon A, White F, Williams-Hall R, Arbuckle R, Tomaszewski E, Shih VH, Haughney J, Eisen A, Winders T, Coons SJ, Eremenco S, Patient-Reported Outcome Consortium’s Pediatric Asthma Working Group.
    J Patient Rep Outcomes; 2023 Oct 20; 7(1):104. PubMed ID: 37863864
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  • 14. 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 20; 164A(7):1713-33. PubMed ID: 24782230
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  • 16. 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 Jul 20; 10(4):e0123092. PubMed ID: 25915946
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  • 17. One of the First Cases with PIK3CA-related Overgrowth Spectrum (PROS) in Saudi Arabia: A Case Report and Literature Review.
    Alsaedi SA, Qurashi O, Bajunaid M, Altalhi AA, Shawli AM.
    Cureus; 2020 Jan 07; 12(1):e6586. PubMed ID: 31929958
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  • 18. Brain Abnormalities in PIK3CA-Related Overgrowth Spectrum: Physician, Patient, and Caregiver Experiences.
    Dexheimer J, Mirzaa GM.
    Adv Ther; 2022 Sep 07; 39(9):3871-3880. PubMed ID: 35857185
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  • 19. Update on classification and diagnosis of vascular malformations.
    McCuaig CC.
    Curr Opin Pediatr; 2017 Aug 07; 29(4):448-454. PubMed ID: 28654575
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  • 20. Key measurement concepts and appropriate clinical outcome assessments in pediatric achondroplasia clinical trials.
    Aldhouse NVJ, Kitchen H, Johnson C, Marshall C, Pegram H, Pease S, Collins S, Baker CL, Beaverson K, Crews C, Massey J, Wyrwich KW.
    Orphanet J Rare Dis; 2022 May 07; 17(1):182. PubMed ID: 35525989
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