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5. Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia. Lukacs V; Mathur J; Mao R; Bayrak-Toydemir P; Procter M; Cahalan SM; Kim HJ; Bandell M; Longo N; Day RW; Stevenson DA; Patapoutian A; Krock BL Nat Commun; 2015 Sep; 6():8329. PubMed ID: 26387913 [TBL] [Abstract][Full Text] [Related]
6. CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis. Connell FC; Kalidas K; Ostergaard P; Brice G; Murday V; Mortimer PS; Jeffrey I; Jeffery S; Mansour S Clin Genet; 2012 Feb; 81(2):191-7. PubMed ID: 22239599 [No Abstract] [Full Text] [Related]
7. Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels. Albuisson J; Murthy SE; Bandell M; Coste B; Louis-Dit-Picard H; Mathur J; Fénéant-Thibault M; Tertian G; de Jaureguiberry JP; Syfuss PY; Cahalan S; Garçon L; Toutain F; Simon Rohrlich P; Delaunay J; Picard V; Jeunemaitre X; Patapoutian A Nat Commun; 2013; 4():1884. PubMed ID: 23695678 [TBL] [Abstract][Full Text] [Related]
8. A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis. Aukema SM; Ten Brinke GA; Timens W; Vos YJ; Accord RE; Kraft KE; Santing MJ; Morssink LP; Streefland E; van Diemen CC; Vrijlandt EJ; Hulzebos CV; Kerstjens-Frederikse WS Am J Med Genet A; 2020 Sep; 182(9):2152-2160. PubMed ID: 32618121 [TBL] [Abstract][Full Text] [Related]
9. Extended phenotypes of PIEZO1-related lymphatic dysplasia caused by two novel compound heterozygous variants. Lee S; Park S; Kim HY; Chae JH; Ko JM Eur J Med Genet; 2021 Oct; 64(10):104295. PubMed ID: 34371190 [TBL] [Abstract][Full Text] [Related]
10. Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes? Martin-Almedina S; Mansour S; Ostergaard P J Physiol; 2018 Mar; 596(6):985-992. PubMed ID: 29331020 [TBL] [Abstract][Full Text] [Related]
11. Mechanosensitive Piezo1 ion channel protein (PIEZO1 gene): update and extended mutation analysis of hereditary xerocytosis in India. More TA; Dongerdiye R; Devendra R; Warang PP; Kedar PS Ann Hematol; 2020 Apr; 99(4):715-727. PubMed ID: 32112123 [TBL] [Abstract][Full Text] [Related]
12. Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. Andolfo I; Alper SL; De Franceschi L; Auriemma C; Russo R; De Falco L; Vallefuoco F; Esposito MR; Vandorpe DH; Shmukler BE; Narayan R; Montanaro D; D'Armiento M; Vetro A; Limongelli I; Zuffardi O; Glader BE; Schrier SL; Brugnara C; Stewart GW; Delaunay J; Iolascon A Blood; 2013 May; 121(19):3925-35, S1-12. PubMed ID: 23479567 [TBL] [Abstract][Full Text] [Related]
13. PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis. Andolfo I; Manna F; De Rosa G; Rosato BE; Gambale A; Tomaiuolo G; Carciati A; Marra R; De Franceschi L; Iolascon A; Russo R Haematologica; 2018 Mar; 103(3):e94-e97. PubMed ID: 29191841 [No Abstract] [Full Text] [Related]
14. Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression. de Bruyn G; Casaer A; Devolder K; Van Acker G; Logghe H; Devriendt K; Cornette L Eur J Pediatr; 2012 Mar; 171(3):447-50. PubMed ID: 21918810 [TBL] [Abstract][Full Text] [Related]
15. Dehydrated hereditary stomatocytosis: Prenatal management of ascites and pleural effusions. Le Vaillant C; Riteau AS; Eveillard M; Beneteau C Taiwan J Obstet Gynecol; 2018 Apr; 57(2):323-324. PubMed ID: 29673682 [No Abstract] [Full Text] [Related]
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17. Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: a case report. Shmukler BE; Vandorpe DH; Rivera A; Auerbach M; Brugnara C; Alper SL Blood Cells Mol Dis; 2014 Jan; 52(1):53-4. PubMed ID: 23973043 [No Abstract] [Full Text] [Related]
18. Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops. Beneteau C; Thierry G; Blesson S; Le Vaillant C; Picard V; Béné MC; Eveillard M; Le Caignec C Clin Genet; 2014 Mar; 85(3):293-5. PubMed ID: 23581886 [No Abstract] [Full Text] [Related]
19. CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops. Shah S; Conlin LK; Gomez L; Aagenaes Ø; Eiklid K; Knisely AS; Mennuti MT; Matthews RP; Spinner NB; Bull LN PLoS One; 2013; 8(9):e75770. PubMed ID: 24086631 [TBL] [Abstract][Full Text] [Related]
20. Lymphoscintigraphy patterns in newborns and children with congenital lymphatic dysplasia. Bellini C; Villa G; Sambuceti G; Traggiai C; Campisi C; Bellini T; Morcaldi G; Massocco D; Bonioli E; Boccardo F Lymphology; 2014 Mar; 47(1):28-39. PubMed ID: 25109167 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]