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Items: 1 to 20 of 95

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.

J Med Genet. 2009 Mar;46(3):168-75. doi: 10.1136/jmg.2008.061002. Epub 2008 Sep 23.

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.

Eur J Med Genet. 2008 Nov-Dec;51(6):651-7. doi: 10.1016/j.ejmg.2008.07.012. Epub 2008 Aug 15.

PMID:
18775522
3.

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.

Am J Med Genet A. 2011 Jul;155A(7):1646-53. doi: 10.1002/ajmg.a.34063. Epub 2011 Jun 10.

4.

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.

Clin Dysmorphol. 2007 Oct;16(4):241-6.

PMID:
17786115
5.

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.

Pediatr Blood Cancer. 2008 Apr;50(4):908-11.

PMID:
17584876
6.

Duplication of 20p12.3 associated with familial Wolff-Parkinson-White syndrome.

Mills KI, Anderson J, Levy PT, Cole FS, Silva JN, Kulkarni S, Shinawi M.

Am J Med Genet A. 2013 Jan;161A(1):137-44. doi: 10.1002/ajmg.a.35701. Epub 2012 Dec 13.

PMID:
23239491
7.

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.

Nat Genet. 1997 Jul;16(3):243-51.

PMID:
9207788
8.

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

Yuan ZR, Kobayashi N, Kohsaka T.

J Mol Biol. 2006 Feb 24;356(3):559-68. Epub 2005 Dec 20.

PMID:
16403414
9.

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.

Am J Med Genet. 2002 Oct 1;112(2):190-3.

PMID:
12244554
10.

JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.

Guegan K, Stals K, Day M, Turnpenny P, Ellard S.

Clin Genet. 2012 Jul;82(1):33-40. doi: 10.1111/j.1399-0004.2011.01749.x. Epub 2011 Jul 31.

PMID:
21752016
11.

SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation.

Kamath BM, Thiel BD, Gai X, Conlin LK, Munoz PS, Glessner J, Clark D, Warthen DM, Shaikh TH, Mihci E, Piccoli DA, Grant SF, Hakonarson H, Krantz ID, Spinner NB.

Hum Mutat. 2009 Mar;30(3):371-8. doi: 10.1002/humu.20863.

12.

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

Marchetti D, Iascone MR, Pezzoli L.

Hum Genet. 2009 Aug;126(2):344-5. No abstract available.

PMID:
19694039
13.

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

Marchetti D, Iascone MR, Pezzoli L.

Hum Genet. 2009 Aug;126(2):349-50. No abstract available.

PMID:
19694054
14.

Gene symbol: JAG1. Disease: Alagille syndrome.

Conidi ME, Michelucci A, Maggiore G, Simi P.

Hum Genet. 2008 Oct;124(3):322. No abstract available.

PMID:
18846686
15.

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

Marchetti D, Iascone MR, Pezzoli L.

Hum Genet. 2009 Aug;126(2):348. No abstract available.

PMID:
19694051
16.

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

Marchetti D, Iascone MR, Pezzoli L.

Hum Genet. 2009 Aug;126(2):349. No abstract available.

PMID:
19694053
17.

Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1.

El-Rassy I, Bou-Abdallah J, Al-Ghadban S, Bitar F, Nemer G.

Am J Med Genet A. 2008 Apr 1;146A(7):937-9. doi: 10.1002/ajmg.a.32225. No abstract available.

PMID:
18266235
18.

Jagged-1 mutation analysis in Italian Alagille syndrome patients.

Pilia G, Uda M, Macis D, Frau F, Crisponi L, Balli F, Barbera C, Colombo C, Frediani T, Gatti R, Iorio R, Marazzi MG, Marcellini M, Musumeci S, Nebbia G, Vajro P, Ruffa G, Zancan L, Cao A, DeVirgilis S.

Hum Mutat. 1999;14(5):394-400.

PMID:
10533065
19.

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

Marchetti D, Iascone MR, Pezzoli L.

Hum Genet. 2009 Aug;126(2):347. No abstract available.

PMID:
19694048
20.

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

Marchetti D, Iascone MR, Pezzoli L.

Hum Genet. 2009 Aug;126(2):350. No abstract available.

PMID:
19694055

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