171 related articles for article (PubMed ID: 30420927)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
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. Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity.
Ramos FJ; Kaplan BS; Bellah RD; Zackai EH; Kaplan P
Am J Med Genet; 1998 Aug; 78(5):474-81. PubMed ID: 9714016
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease.
Currarino G
Pediatr Radiol; 2009 Jan; 39(1):47-52. PubMed ID: 18815778
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]