272 related articles for article (PubMed ID: 28941602)
21. 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]
22. 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]
23. Hairy and enhancer of split 1 is a primary effector of NOTCH2 signaling and induces osteoclast differentiation and function.
Yu J; Schilling L; Eller T; Canalis E
J Biol Chem; 2021 Dec; 297(6):101376. PubMed ID: 34742737
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Notch signaling in skeletal health and disease.
Zanotti S; Canalis E
Eur J Endocrinol; 2013 Jun; 168(6):R95-103. PubMed ID: 23554451
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. 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]
28. 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]
29. Capillaroscopic findings in a case of Hajdu-Cheney syndrome.
Damian LO; Simon SP; Filipescu I; Bocsa C; Botar-Jid C; Rednic S
Osteoporos Int; 2016 Mar; 27(3):1269-1273. PubMed ID: 26400009
[TBL] [Abstract][Full Text] [Related]
30. Fracture healing in a mouse model of Hajdu-Cheney-Syndrome with high turnover osteopenia results in decreased biomechanical stability.
Ballhause TM; Jiang S; Xie W; Sevecke J; Dowling C; Dust T; Brandt S; Mertens PR; Yorgan TA; Schinke T; Frosch KH; Baranowsky A; Keller J
Sci Rep; 2023 Jul; 13(1):11418. PubMed ID: 37452111
[TBL] [Abstract][Full Text] [Related]
31. Oral Surgery Procedures in a Patient with Hajdu-Cheney Syndrome Treated with Denosumab-A Rare Case Report.
Kaczoruk-Wieremczuk M; Adamska P; Adamski ŁJ; Wychowański P; Jereczek-Fossa BA; Starzyńska A
Int J Environ Res Public Health; 2021 Aug; 18(17):. PubMed ID: 34501688
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome.
Swan L; Gole G; Sabesan V; Cardinal J; Coman D
Case Rep Genet; 2018; 2018():2508345. PubMed ID: 30420927
[TBL] [Abstract][Full Text] [Related]
34. Notch signaling in human development and disease.
Penton AL; Leonard LD; Spinner NB
Semin Cell Dev Biol; 2012 Jun; 23(4):450-7. PubMed ID: 22306179
[TBL] [Abstract][Full Text] [Related]
35. [Human diseases and NOTCH receptors].
Le Caignec C
Med Sci (Paris); 2011; 27(6-7):593-5. PubMed ID: 21718643
[No Abstract] [Full Text] [Related]
36. 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]
37. 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]
38. Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.
Pittaway JFH; Harrison C; Rhee Y; Holder-Espinasse M; Fryer AE; Cundy T; Drake WM; Irving MD
Orphanet J Rare Dis; 2018 Apr; 13(1):47. PubMed ID: 29618366
[TBL] [Abstract][Full Text] [Related]
39. An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report.
Lee GH; An SY; Sohn YB; Jeong SY; Chung YS
J Korean Med Sci; 2013 Nov; 28(11):1682-6. PubMed ID: 24265536
[TBL] [Abstract][Full Text] [Related]
40. Induction of the Hajdu-Cheney Syndrome Mutation in CD19 B Cells in Mice Alters B-Cell Allocation but Not Skeletal Homeostasis.
Yu J; Zanotti S; Schilling L; Schoenherr C; Economides AN; Sanjay A; Canalis E
Am J Pathol; 2018 Jun; 188(6):1430-1446. PubMed ID: 29545197
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
