Loomes KM - Search Results

1

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.

Gilbert MA, Bauer RC, Rajagopalan R, Grochowski CM, Chao G, McEldrew D, Nassur JA, Rand EB, Krock BL, Kamath BM, Krantz ID, Piccoli DA, Loomes KM, Spinner NB. Gilbert MA, et al. Among authors: loomes km. Hum Mutat. 2019 Dec;40(12):2197-2220. doi: 10.1002/humu.23879. Epub 2019 Aug 26. Hum Mutat. 2019. PMID: 31343788 Free PMC article.

2

The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome.

Loomes KM, Underkoffler LA, Morabito J, Gottlieb S, Piccoli DA, Spinner NB, Baldwin HS, Oakey RJ. Loomes KM, et al. Hum Mol Genet. 1999 Dec;8(13):2443-9. doi: 10.1093/hmg/8.13.2443. Hum Mol Genet. 1999. PMID: 10556292

3

Facial features in Alagille syndrome: specific or cholestasis facies?

Kamath BM, Loomes KM, Oakey RJ, Emerick KE, Conversano T, Spinner NB, Piccoli DA, Krantz ID. Kamath BM, et al. Among authors: loomes km. Am J Med Genet. 2002 Oct 1;112(2):163-70. doi: 10.1002/ajmg.10579. Am J Med Genet. 2002. PMID: 12244550

4

Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome.

Kamath BM, Loomes KM, Oakey RJ, Krantz ID. Kamath BM, et al. Among authors: loomes km. Am J Med Genet. 2002 Oct 1;112(2):171-5. doi: 10.1002/ajmg.10628. Am J Med Genet. 2002. PMID: 12244551

5

Characterization of Notch receptor expression in the developing mammalian heart and liver.

Loomes KM, Taichman DB, Glover CL, Williams PT, Markowitz JE, Piccoli DA, Baldwin HS, Oakey RJ. Loomes KM, et al. Am J Med Genet. 2002 Oct 1;112(2):181-9. doi: 10.1002/ajmg.10592. Am J Med Genet. 2002. PMID: 12244553

6

Bile duct proliferation in liver-specific Jag1 conditional knockout mice: effects of gene dosage.

Loomes KM, Russo P, Ryan M, Nelson A, Underkoffler L, Glover C, Fu H, Gridley T, Kaestner KH, Oakey RJ. Loomes KM, et al. Hepatology. 2007 Feb;45(2):323-30. doi: 10.1002/hep.21460. Hepatology. 2007. PMID: 17366661

7

A 9-month-old girl with chronic diarrhea.

de Zoeten EF, Markowitz J, Loomes KM, Mamula P, Piccoli DA. de Zoeten EF, et al. Among authors: loomes km. Medscape J Med. 2008;10(8):195. Epub 2008 Aug 19. Medscape J Med. 2008. PMID: 18924647 Free PMC article. No abstract available.

8

Bile duct proliferation in Jag1/fringe heterozygous mice identifies candidate modifiers of the Alagille syndrome hepatic phenotype.

Ryan MJ, Bales C, Nelson A, Gonzalez DM, Underkoffler L, Segalov M, Wilson-Rawls J, Cole SE, Moran JL, Russo P, Spinner NB, Kusumi K, Loomes KM. Ryan MJ, et al. Among authors: loomes km. Hepatology. 2008 Dec;48(6):1989-97. doi: 10.1002/hep.22538. Hepatology. 2008. PMID: 19026002

9

Ductal malformation and pancreatitis in mice caused by conditional Jag1 deletion.

Golson ML, Loomes KM, Oakey R, Kaestner KH. Golson ML, et al. Among authors: loomes km. Gastroenterology. 2009 May;136(5):1761-71.e1. doi: 10.1053/j.gastro.2009.01.040. Epub 2009 Jan 23. Gastroenterology. 2009. PMID: 19208348

10

Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.

Bauer RC, Laney AO, Smith R, Gerfen J, Morrissette JJ, Woyciechowski S, Garbarini J, Loomes KM, Krantz ID, Urban Z, Gelb BD, Goldmuntz E, Spinner NB. Bauer RC, et al. Among authors: loomes km. Hum Mutat. 2010 May;31(5):594-601. doi: 10.1002/humu.21231. Hum Mutat. 2010. PMID: 20437614 Free PMC article.

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