BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

151 related articles for article (PubMed ID: 36301051)

  • 1. Hajdu-Cheney syndrome with atypical cardiovascular abnormalities.
    Ekure EN; Sokunbi O; Kruszka P; Muenke M; Adeyemo AA
    Am J Med Genet A; 2023 Jan; 191(1):271-274. PubMed ID: 36301051
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome.
    Stathopoulos IP; Trovas G; Lampropoulou-Adamidou K; Koromila T; Kollia P; Papaioannou NA; Lyritis G
    Bone; 2013 Jan; 52(1):366-71. PubMed ID: 23117206
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review.
    Zeng C; Lin Y; Lu Z; Chen Z; Jiang X; Mao X; Liu Z; Lu X; Zhang K; Yu Q; Wang X; Huang Y; Liu L
    BMC Musculoskelet Disord; 2020 Mar; 21(1):154. PubMed ID: 32143606
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Hajdu-Cheney syndrome: a review.
    Canalis E; Zanotti S
    Orphanet J Rare Dis; 2014 Dec; 9():200. PubMed ID: 25491639
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations.
    Graversen L; Handrup MM; Irving M; Hove H; Diness BR; Risom L; Svaneby D; Aagaard MM; Vogel I; Gjørup H; Davidsen M; Hellfritzsch MB; Lauridsen E; Gregersen PA
    Eur J Med Genet; 2020 Feb; 63(2):103650. PubMed ID: 30980954
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome.
    Zhao W; Petit E; Gafni RI; Collins MT; Robey PG; Seton M; Miller KK; Mannstadt M
    Osteoporos Int; 2013 Aug; 24(8):2275-81. PubMed ID: 23389697
    [TBL] [Abstract][Full Text] [Related]  

  • 7. NOTCH2 Hajdu-Cheney Mutations Escape SCF
    Fukushima H; Shimizu K; Watahiki A; Hoshikawa S; Kosho T; Oba D; Sakano S; Arakaki M; Yamada A; Nagashima K; Okabe K; Fukumoto S; Jimi E; Bigas A; Nakayama KI; Nakayama K; Aoki Y; Wei W; Inuzuka H
    Mol Cell; 2017 Nov; 68(4):645-658.e5. PubMed ID: 29149593
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Hajdu-Cheney Syndrome: A Systematic Review of the Literature.
    Cortés-Martín J; Díaz-Rodríguez L; Piqueras-Sola B; Rodríguez-Blanque R; Bermejo-Fernández A; Sánchez-García JC
    Int J Environ Res Public Health; 2020 Aug; 17(17):. PubMed ID: 32854429
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A mutation in NOTCH2 gene in a Chinese patient with Hajdu-Cheney syndrome.
    Gu JM; Hu YQ; Zhang H; Wang C; Hu WW; Yue H; Liu YJ; Zhang ZL
    Joint Bone Spine; 2013 Oct; 80(5):548-9. PubMed ID: 23566664
    [No Abstract]   [Full Text] [Related]  

  • 10. Orofacial characteristics in a child with Hajdu-Cheney syndrome.
    Saji S; Devi K P; Morankar R; Tewari N; Mathur VP; Bansal K
    Spec Care Dentist; 2024; 44(2):428-433. PubMed ID: 37227705
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Phenotype variability in Hajdu-Cheney syndrome.
    Regev M; Pode-Shakked B; Jacobson JM; Raas-Rothschild A; Goldstein DB; Anikster Y
    Eur J Med Genet; 2019 Jan; 62(1):35-38. PubMed ID: 29698804
    [TBL] [Abstract][Full Text] [Related]  

  • 12. End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome.
    Battelino N; Writzl K; Bratanič N; Irving MD; Novljan G
    Ther Apher Dial; 2016 Jun; 20(3):318-21. PubMed ID: 27312922
    [TBL] [Abstract][Full Text] [Related]  

  • 13. High Bone Turnover in Mice Carrying a Pathogenic Notch2 Mutation Causing Hajdu-Cheney Syndrome.
    Vollersen N; Hermans-Borgmeyer I; Cornils K; Fehse B; Rolvien T; Triviai I; Jeschke A; Oheim R; Amling M; Schinke T; Yorgan TA
    J Bone Miner Res; 2018 Jan; 33(1):70-83. PubMed ID: 28856714
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel NOTCH2 mutation identified in a Korean family with Hajdu-Cheney syndrome showing phenotypic diversity.
    Han MS; Ko JM; Cho TJ; Park WY; Cheong HI
    Ann Clin Lab Sci; 2015; 45(1):110-4. PubMed ID: 25696021
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Hajdu-Cheney Syndrome, a Disease Associated with NOTCH2 Mutations.
    Canalis E; Zanotti S
    Curr Osteoporos Rep; 2016 Aug; 14(4):126-31. PubMed ID: 27241678
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A mutation in NOTCH2 gene first associated with Hajdu-Cheney syndrome in a Greek family: diversity in phenotype and response to treatment.
    Efstathiadou ZA; Kostoulas C; Polyzos SA; Adamidou F; Georgiou I; Kita M
    Endocrine; 2021 Jan; 71(1):208-215. PubMed ID: 32772338
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation.
    Tan EC; Lai AHM; Brett MSY
    Am J Med Genet A; 2022 Jul; 188(7):2135-2138. PubMed ID: 35289498
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A very rare cause of acro-osteolysis: Hajdu-Cheney syndrome.
    Deprouw C; Feydy A; Giraudet Le Quintrec JS; Ruiz B; Kahan A; Allanore Y
    Joint Bone Spine; 2015 Dec; 82(6):455-9. PubMed ID: 26184537
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.
    Simpson MA; Irving MD; Asilmaz E; Gray MJ; Dafou D; Elmslie FV; Mansour S; Holder SE; Brain CE; Burton BK; Kim KH; Pauli RM; Aftimos S; Stewart H; Kim CA; Holder-Espinasse M; Robertson SP; Drake WM; Trembath RC
    Nat Genet; 2011 Mar; 43(4):303-5. PubMed ID: 21378985
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.
    Majewski J; Schwartzentruber JA; Caqueret A; Patry L; Marcadier J; Fryns JP; Boycott KM; Ste-Marie LG; McKiernan FE; Marik I; Van Esch H; ; Michaud JL; Samuels ME
    Hum Mutat; 2011 Oct; 32(10):1114-7. PubMed ID: 21681853
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.