Loomes KM - Search Results

1

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.

Rajagopalan R, Grochowski CM, Gilbert MA, Falsey AM, Coleman K, Romero R, Loomes KM, Piccoli DA, Devoto M, Spinner NB. Rajagopalan R, et al. Among authors: loomes km. Am J Med Genet A. 2016 Mar;170(3):750-3. doi: 10.1002/ajmg.a.37512. Epub 2015 Dec 24. Am J Med Genet A. 2016. PMID: 26697755

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

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.

7

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

8

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.

9

Pathologic lower extremity fractures in children with Alagille syndrome.

Bales CB, Kamath BM, Munoz PS, Nguyen A, Piccoli DA, Spinner NB, Horn D, Shults J, Leonard MB, Grimberg A, Loomes KM. Bales CB, et al. Among authors: loomes km. J Pediatr Gastroenterol Nutr. 2010 Jul;51(1):66-70. doi: 10.1097/MPG.0b013e3181cb9629. J Pediatr Gastroenterol Nutr. 2010. PMID: 20453673 Free PMC article.

10

Medical management of Alagille syndrome.

Kamath BM, Loomes KM, Piccoli DA. Kamath BM, et al. Among authors: loomes km. J Pediatr Gastroenterol Nutr. 2010 Jun;50(6):580-6. doi: 10.1097/MPG.0b013e3181d98ea8. J Pediatr Gastroenterol Nutr. 2010. PMID: 20479679

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