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.
131 related articles for article (PubMed ID: 37121269)
1. NOTCH2 related disorders: Description and review of the fetal presentation. Deb W; Joubert M; Cogné B; Vincent M; Ghesh L; Bézieau S; Le Vaillant C; Beneteau C Eur J Med Genet; 2023 Jul; 66(7):104769. PubMed ID: 37121269 [TBL] [Abstract][Full Text] [Related]
2. 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]
3. Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders. Martin BM; Ivanova MH; Sarukhanov A; Kim A; Power P; Pugash D; Popescu OE; Lachman RS; Krakow D; Patel MS Am J Med Genet A; 2014 Oct; 164A(10):2490-5. PubMed ID: 24995648 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2. Isidor B; Le Merrer M; Exner GU; Pichon O; Thierry G; Guiochon-Mantel A; David A; Cormier-Daire V; Le Caignec C Hum Mutat; 2011 Nov; 32(11):1239-42. PubMed ID: 21793104 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome. Gray MJ; Kim CA; Bertola DR; Arantes PR; Stewart H; Simpson MA; Irving MD; Robertson SP Eur J Hum Genet; 2012 Jan; 20(1):122-4. PubMed ID: 21712856 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. Hajdu-Cheney Syndrome: A Report on Successful Halting of Acro-osteolysis. Duraiswamy G; Ashraf M; Sambandam SN; Shanmugasundaram S JBJS Case Connect; 2021 May; 11(2):. PubMed ID: 34019492 [TBL] [Abstract][Full Text] [Related]
14. 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]
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. 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]
17. 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]