Similar articles for PMID: 18812404

Year	Number of Results
1969	1
1978	1
1982	1
1983	1
1984	2
1995	1
1996	1
1997	3
1999	3
2000	2
2001	5
2002	5
2003	5
2004	1
2005	3
2006	4
2007	4
2008	6
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2010	6
2011	3
2012	3
2013	2
2014	1
2015	1
2016	1
2017	3
2018	1
2020	1
2022	1
2024	0

1

20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits.

Lalani SR, Thakuria JV, Cox GF, Wang X, Bi W, Bray MS, Shaw C, Cheung SW, Chinault AC, Boggs BA, Ou Z, Brundage EK, Lupski JR, Gentile J, Waisbren S, Pursley A, Ma L, Khajavi M, Zapata G, Friedman R, Kim JJ, Towbin JA, Stankiewicz P, Schnittger S, Hansmann I, Ai T, Sood S, Wehrens XH, Martin JF, Belmont JW, Potocki L. Lalani SR, et al. J Med Genet. 2009 Mar;46(3):168-75. doi: 10.1136/jmg.2008.061002. Epub 2008 Sep 23. J Med Genet. 2009. PMID: 18812404 Free PMC article.

2

A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff-Parkinson-White syndrome.

Le Gloan L, Pichon O, Isidor B, Boceno M, Rival JM, David A, Le Caignec C. Le Gloan L, et al. Eur J Med Genet. 2008 Nov-Dec;51(6):651-7. doi: 10.1016/j.ejmg.2008.07.012. Epub 2008 Aug 15. Eur J Med Genet. 2008. PMID: 18775522

3

Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart.

Robert ML, Lopez T, Crolla J, Huang S, Owen C, Burvill-Holmes L, Stumper O, Turnpenny PD. Robert ML, et al. Clin Dysmorphol. 2007 Oct;16(4):241-6. doi: 10.1097/MCD.0b013e3282358d21. Clin Dysmorphol. 2007. PMID: 17786115

4

Alagille syndrome and nephroblastoma: Unusual coincidence of two rare disorders.

Bourdeaut F, Guiochon-Mantel A, Fabre M, Martelli H, Patte C, Porta G, Bernard O, Delattre O, Jacquemin E. Bourdeaut F, et al. Pediatr Blood Cancer. 2008 Apr;50(4):908-11. doi: 10.1002/pbc.21255. Pediatr Blood Cancer. 2008. PMID: 17584876

5

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.

Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, Qi M, Trask BJ, Kuo WL, Cochran J, Costa T, Pierpont ME, Rand EB, Piccoli DA, Hood L, Spinner NB. Li L, et al. Nat Genet. 1997 Jul;16(3):243-51. doi: 10.1038/ng0797-243. Nat Genet. 1997. PMID: 9207788

6

Human Jagged 1 mutants cause liver defect in Alagille syndrome by overexpression of hepatocyte growth factor.

Yuan ZR, Kobayashi N, Kohsaka T. Yuan ZR, et al. J Mol Biol. 2006 Feb 24;356(3):559-68. doi: 10.1016/j.jmb.2005.11.097. Epub 2005 Dec 20. J Mol Biol. 2006. PMID: 16403414

7

Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion.

Laufer-Cahana A, Krantz ID, Bason LD, Lu FM, Piccoli DA, Spinner NB. Laufer-Cahana A, et al. Am J Med Genet. 2002 Oct 1;112(2):190-3. doi: 10.1002/ajmg.10616. Am J Med Genet. 2002. PMID: 12244554

8

Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate.

Sahoo T, Theisen A, Sanchez-Lara PA, Marble M, Schweitzer DN, Torchia BS, Lamb AN, Bejjani BA, Shaffer LG, Lacassie Y. Sahoo T, et al. Am J Med Genet A. 2011 Jul;155A(7):1646-53. doi: 10.1002/ajmg.a.34063. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671386 Free PMC article.

9

Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.

Marchetti D, Iascone MR, Pezzoli L. Marchetti D, et al. Hum Genet. 2009 Aug;126(2):344-5. Hum Genet. 2009. PMID: 19694039 No abstract available.

10

Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.

Marchetti D, Iascone MR, Pezzoli L. Marchetti D, et al. Hum Genet. 2009 Aug;126(2):349-50. Hum Genet. 2009. PMID: 19694054 No abstract available.

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