PubMed (cited) for id: 600275

Year	Number of Results
1994	1
1995	1
1996	2
1997	1
1998	2
1999	1
2001	1
2002	1
2003	2
2006	1
2007	1
2008	1
2010	1
2011	5
2012	1
2024	0

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. Gray MJ, et al. Eur J Hum Genet. 2012 Jan;20(1):122-4. doi: 10.1038/ejhg.2011.125. Epub 2011 Jun 29. Eur J Hum Genet. 2012. PMID: 21712856 Free PMC article.

2

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. Majewski J, et al. Hum Mutat. 2011 Oct;32(10):1114-7. doi: 10.1002/humu.21546. Epub 2011 Sep 9. Hum Mutat. 2011. PMID: 21681853

3

Neural crest regulates myogenesis through the transient activation of NOTCH.

Rios AC, Serralbo O, Salgado D, Marcelle C. Rios AC, et al. Nature. 2011 May 26;473(7348):532-5. doi: 10.1038/nature09970. Epub 2011 May 15. Nature. 2011. PMID: 21572437

4

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. Isidor B, et al. Nat Genet. 2011 Mar 6;43(4):306-8. doi: 10.1038/ng.778. Nat Genet. 2011. PMID: 21378989

5

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. Simpson MA, et al. Nat Genet. 2011 Mar 6;43(4):303-5. doi: 10.1038/ng.779. Nat Genet. 2011. PMID: 21378985

6

Therapeutic antibody targeting of individual Notch receptors.

Wu Y, Cain-Hom C, Choy L, Hagenbeek TJ, de Leon GP, Chen Y, Finkle D, Venook R, Wu X, Ridgway J, Schahin-Reed D, Dow GJ, Shelton A, Stawicki S, Watts RJ, Zhang J, Choy R, Howard P, Kadyk L, Yan M, Zha J, Callahan CA, Hymowitz SG, Siebel CW. Wu Y, et al. Nature. 2010 Apr 15;464(7291):1052-7. doi: 10.1038/nature08878. Nature. 2010. PMID: 20393564

7

Loss of intestinal crypt progenitor cells owing to inactivation of both Notch1 and Notch2 is accompanied by derepression of CDK inhibitors p27Kip1 and p57Kip2.

Riccio O, van Gijn ME, Bezdek AC, Pellegrinet L, van Es JH, Zimber-Strobl U, Strobl LJ, Honjo T, Clevers H, Radtke F. Riccio O, et al. EMBO Rep. 2008 Apr;9(4):377-83. doi: 10.1038/embor.2008.7. Epub 2008 Feb 15. EMBO Rep. 2008. PMID: 18274550 Free PMC article.

8

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. Albano LMJ, et al. Clin Dysmorphol. 2007 Jan;16(1):27-33. doi: 10.1097/01.mcd.0000228418.74413.52. Clin Dysmorphol. 2007. PMID: 17159511

9

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.

McDaniell R, Warthen DM, Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA, Spinner NB. McDaniell R, et al. Am J Hum Genet. 2006 Jul;79(1):169-73. doi: 10.1086/505332. Epub 2006 May 10. Am J Hum Genet. 2006. PMID: 16773578 Free PMC article.

10

Notch signaling regulates left-right asymmetry determination by inducing Nodal expression.

Krebs LT, Iwai N, Nonaka S, Welsh IC, Lan Y, Jiang R, Saijoh Y, O'Brien TP, Hamada H, Gridley T. Krebs LT, et al. Genes Dev. 2003 May 15;17(10):1207-12. doi: 10.1101/gad.1084703. Epub 2003 May 2. Genes Dev. 2003. PMID: 12730124 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

21 results

Results by year