156 related articles for article (PubMed ID: 32772338)
1. 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]
2. Hajdu Cheney Syndrome; report of a novel NOTCH2 mutation and treatment with denosumab.
Adami G; Rossini M; Gatti D; Orsolini G; Idolazzi L; Viapiana O; Scarpa A; Canalis E
Bone; 2016 Nov; 92():150-156. PubMed ID: 27592446
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. Exploratory use of romosozumab for osteoporosis in a patient with Hajdu-Cheney syndrome: a case report.
Kim KJ; Hong N; Lee S; Shin S; Rhee Y
Osteoporos Int; 2023 May; 34(5):1005-1009. PubMed ID: 36622389
[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. 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]
10. 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]
11. 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]
12. Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.
Narumi Y; Min BJ; Shimizu K; Kazukawa I; Sameshima K; Nakamura K; Kosho T; Rhee Y; Chung YS; Kim OH; Fukushima Y; Park WY; Nishimura G
Am J Med Genet A; 2013 Mar; 161A(3):518-26. PubMed ID: 23401378
[TBL] [Abstract][Full Text] [Related]
13. A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation.
Midro AT; Stasiewicz-Jarocka B; Borys J; Kozłowski K; Skotnicka B; Tarasów E; Hubert E; Konstantynowicz J; Panasiuk B; Rydzanicz M; Pollak A; Stawiński P; Skowroński R; Płoski R
Am J Med Genet A; 2018 Nov; 176(11):2382-2388. PubMed ID: 30329210
[TBL] [Abstract][Full Text] [Related]
14. Clinical and experimental aspects of notch receptor signaling: Hajdu-Cheney syndrome and related disorders.
Canalis E
Metabolism; 2018 Mar; 80():48-56. PubMed ID: 28941602
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
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. 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]
[Next] [New Search]
