162 related articles for article (PubMed ID: 21793104)
1. 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]
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. 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. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
Isidor B; Lindenbaum P; Pichon O; Bézieau S; Dina C; Jacquemont S; Martin-Coignard D; Thauvin-Robinet C; Le Merrer M; Mandel JL; David A; Faivre L; Cormier-Daire V; Redon R; Le Caignec C
Nat Genet; 2011 Mar; 43(4):306-8. PubMed ID: 21378989
[TBL] [Abstract][Full Text] [Related]
13. Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.
Albano LMJ; Bertola DR; Barba MF; Valente M; Robertson SP; Kim CA
Clin Dysmorphol; 2007 Jan; 16(1):27-33. PubMed ID: 17159511
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant.
Tėvelytė I; Bertašius P; Aleknavičienė K; Jonikas R; Klimaitė J; Jašinskienė E; Traberg R
Eur J Med Genet; 2024 Jun; 69():104938. PubMed ID: 38580081
[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. 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. 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]
20. 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]
[Next] [New Search]
