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Items: 1 to 20 of 108

1.

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. doi: 10.1038/ejhg.2011.125. Epub 2011 Jun 29.

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. doi: 10.1002/ajmg.a.35772. Epub 2013 Feb 7. Erratum in: Am J Med Genet A. 2013 Oct;161(10):2685.

PMID:
23401378
3.

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. doi: 10.1002/humu.21563. Epub 2011 Sep 12.

PMID:
21793104
4.

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 Winter;45(1):110-4.

PMID:
25696021
5.

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. doi: 10.1002/ajmg.a.36656. Epub 2014 Jul 3.

PMID:
24995648
6.

Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.

Albano LM, Bertola DR, Barba MF, Valente M, Robertson SP, Kim CA.

Clin Dysmorphol. 2007 Jan;16(1):27-33.

PMID:
17159511
7.

Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease.

Currarino G.

Pediatr Radiol. 2009 Jan;39(1):47-52. doi: 10.1007/s00247-008-0992-9. Epub 2008 Sep 25. Review.

PMID:
18815778
8.

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. doi: 10.1007/s00198-013-2298-5. Epub 2013 Feb 7.

9.

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 6;78(5):474-81.

PMID:
9714016
10.

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 6;43(4):306-8. doi: 10.1038/ng.778.

PMID:
21378989
11.

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. doi: 10.1016/j.bone.2012.10.027. Epub 2012 Oct 29.

PMID:
23117206
12.

Hajdu-Cheney syndrome: a review.

Canalis E, Zanotti S.

Orphanet J Rare Dis. 2014 Dec 10;9:200. doi: 10.1186/s13023-014-0200-y. Review.

13.

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; FORGE Canada Consortium., Michaud JL, Samuels ME.

Hum Mutat. 2011 Oct;32(10):1114-7. doi: 10.1002/humu.21546. Epub 2011 Sep 9.

PMID:
21681853
14.

Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation.

Descartes M, Rojnueangnit K, Cole L, Sutton A, Morgan SL, Patry L, Samuels ME.

Clin Dysmorphol. 2014 Jul;23(3):88-94. doi: 10.1097/MCD.0000000000000034. No abstract available.

PMID:
24608068
15.

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. doi: 10.1016/j.jbspin.2015.02.013. Epub 2015 Jul 14.

PMID:
26184537
16.

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 6;43(4):303-5. doi: 10.1038/ng.779.

PMID:
21378985
17.

A mutation in NOTCH2 gene in a Chinese patient with Hajdu-Cheney syndrome.

Gu JM, Hu YQ, Zhang H, Wang C, Hu WW, Yue H, Liu YJ, Zhang ZL.

Joint Bone Spine. 2013 Oct;80(5):548-9. doi: 10.1016/j.jbspin.2013.02.008. Epub 2013 Apr 6. No abstract available.

PMID:
23566664
18.

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. doi: 10.3346/jkms.2013.28.11.1682. Epub 2013 Oct 31.

19.

Hajdu Cheney Mouse Mutants Exhibit Osteopenia, Increased Osteoclastogenesis, and Bone Resorption.

Canalis E, Schilling L, Yee SP, Lee SK, Zanotti S.

J Biol Chem. 2016 Jan 22;291(4):1538-51. doi: 10.1074/jbc.M115.685453. Epub 2015 Dec 1.

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. doi: 10.1111/1744-9987.12444.

PMID:
27312922

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