These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

171 related articles for article (PubMed ID: 33227434)

  • 1. Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings.
    Mastromoro G; Guadagnolo D; Giancotti A; Di Gregorio MG; Marchionni E; Vena F; Lepri FR; Bargiacchi L; Ventriglia F; Di Gioia C; Novelli A; Pizzuti A
    Eur J Med Genet; 2021 Jan; 64(1):104106. PubMed ID: 33227434
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
    Fotiou E; Martin-Almedina S; Simpson MA; Lin S; Gordon K; Brice G; Atton G; Jeffery I; Rees DC; Mignot C; Vogt J; Homfray T; Snyder MP; Rockson SG; Jeffery S; Mortimer PS; Mansour S; Ostergaard P
    Nat Commun; 2015 Sep; 6():8085. PubMed ID: 26333996
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis.
    Datkhaeva I; Arboleda VA; Senaratne TN; Nikpour G; Meyerson C; Geng Y; Afshar Y; Scibetta E; Goldstein J; Quintero-Rivera F; Crandall BF; Grody WW; Deignan J; Janzen C
    Am J Med Genet A; 2018 Dec; 176(12):2829-2834. PubMed ID: 30244526
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. h
    Mackie DI; Al Mutairi F; Davis RB; Kechele DO; Nielsen NR; Snyder JC; Caron MG; Kliman HJ; Berg JS; Simms J; Poyner DR; Caron KM
    J Exp Med; 2018 Sep; 215(9):2339-2353. PubMed ID: 30115739
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.
    Ghesh L; Désir J; Haye D; Le Tanno P; Devillard F; Cogné B; Marangoni M; Tecco L; Heron D; Le Vaillant C; Joubert M; Beneteau C
    Clin Genet; 2023 May; 103(5):560-565. PubMed ID: 36453701
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Piezo channels.
    Parpaite T; Coste B
    Curr Biol; 2017 Apr; 27(7):R250-R252. PubMed ID: 28376327
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Antenatal presentation of hereditary lymphedema type I.
    Boudon E; Levy Y; Abossolo T; Cartault F; Brouillard P; Vikkula M; Kieffer-Traversier M; Ramful D; Alessandri JL
    Eur J Med Genet; 2015; 58(6-7):329-31. PubMed ID: 25896638
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Persistent chylothorax associated with lymphatic malformation type 6 due to biallelic pathogenic variants in PIEZO1.
    Kovesi T; Rojas SK; Boycott KM
    Am J Med Genet A; 2023 Aug; 191(8):2188-2192. PubMed ID: 37159433
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. PIEZO1 is the most common monogenic etiology of non-immune hydrops fetalis detected by prenatal exome sequencing.
    Brewer CJ; Makhamreh MM; Shivashankar K; McLaren R; Toro M; Berger SI; Al-Kouatly HB
    Prenat Diagn; 2023 Nov; 43(12):1556-1566. PubMed ID: 37902181
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Non-immune hydrops fetalis caused by PIEZO1 compound heterozygous deletions detected only by exome sequencing.
    Reytan S; Zunz Henig N; Yinon Y; Avnet H; Kurolap A; Yaron Y; Baris Feldman H
    Prenat Diagn; 2022 Jun; 42(7):890-893. PubMed ID: 35393661
    [No Abstract]   [Full Text] [Related]  

  • 16. Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.
    Lajmi Y; Loeuillet L; Petrilli G; Egloff C; Nectoux J; Molac C; Roux N; Pannier E; Achaiaa A; Arkoub ZA; Chuon S; Coussement A; Dupont JM; Malan V; Spaggiari E; Razavi F; Amiel J; Bessières B; Grotto S; Attié-Bitach T
    Birth Defects Res; 2023 Mar; 115(5):563-571. PubMed ID: 36538874
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Utility of fetal whole exome sequencing in the etiological evaluation and outcome of nonimmune hydrops fetalis.
    Correa ARE; Naini K; Mishra P; Dadhwal V; Agarwal R; Shukla R; Kabra M; Gupta N
    Prenat Diagn; 2021 Oct; 41(11):1414-1424. PubMed ID: 34302381
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.
    Dufke A; Hoopmann M; Waldmüller S; Prodan NC; Beck-Wödl S; Grasshoff U; Heinrich T; Riess A; Kehrer M; Falb RJ; Liebmann A; Roggia C; Stampfer M; Schadeck M; Müller AJ; Grimmel M; Stöbe P; Gauck D; Buchert-Lo R; Baumann S; Schäferhoff K; Bertrand M; Menden B; Sturm M; Schütz L; Riess O; Ossowski S; Haack TB; Kagan KO
    Prenat Diagn; 2022 Jun; 42(7):901-910. PubMed ID: 35574990
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome.
    Boone PM; Paterson S; Mohajeri K; Zhu W; Genetti CA; Tai DJC; Nori N; Agrawal PB; Bacino CA; Bi W; Talkowski ME; Hogan BM; Rodan LH
    Am J Med Genet A; 2020 Jan; 182(1):189-194. PubMed ID: 31633297
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.
    Frosk P; Chodirker B; Simard L; El-Matary W; Hanlon-Dearman A; Schwartzentruber J; Majewski J; ; Rockman-Greenberg C
    BMC Med Genet; 2015 Apr; 16():28. PubMed ID: 25925991
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.