R01 DK053104/DK/NIDDK NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
2003	1
2005	1
2006	1
2009	1
2010	4
2011	1
2012	2
2015	1
2016	1
2019	1
2020	1
2021	1
2024	0

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. 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

Jagged1 (JAG1): Structure, expression, and disease associations.

Grochowski CM, Loomes KM, Spinner NB. Grochowski CM, et al. Gene. 2016 Jan 15;576(1 Pt 3):381-4. doi: 10.1016/j.gene.2015.10.065. Epub 2015 Nov 6. Gene. 2016. PMID: 26548814 Free PMC article. Review.

3

Notch signaling in human development and disease.

Penton AL, Leonard LD, Spinner NB. Penton AL, et al. Semin Cell Dev Biol. 2012 Jun;23(4):450-7. doi: 10.1016/j.semcdb.2012.01.010. Epub 2012 Jan 28. Semin Cell Dev Biol. 2012. PMID: 22306179 Free PMC article. Review.

4

Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes.

Schindler EA, Gilbert MA, Piccoli DA, Spinner NB, Krantz ID, Loomes KM. Schindler EA, et al. Am J Med Genet A. 2021 Mar;185(3):719-731. doi: 10.1002/ajmg.a.62028. Epub 2020 Dec 24. Am J Med Genet A. 2021. PMID: 33369123 Free PMC article.

5

Renal anomalies in Alagille syndrome: a disease-defining feature.

Kamath BM, Podkameni G, Hutchinson AL, Leonard LD, Gerfen J, Krantz ID, Piccoli DA, Spinner NB, Loomes KM, Meyers K. Kamath BM, et al. Am J Med Genet A. 2012 Jan;158A(1):85-9. doi: 10.1002/ajmg.a.34369. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22105858 Free PMC article.

6

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. Kamath BM, et al. Hum Mutat. 2009 Mar;30(3):371-8. doi: 10.1002/humu.20863. Hum Mutat. 2009. PMID: 19058200 Free PMC article.

7

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.

Kaur M, DeScipio C, McCallum J, Yaeger D, Devoto M, Jackson LG, Spinner NB, Krantz ID. Kaur M, et al. Am J Med Genet A. 2005 Sep 15;138(1):27-31. doi: 10.1002/ajmg.a.30919. Am J Med Genet A. 2005. PMID: 16100726 Free PMC article.

8

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. 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.

9

Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage.

Lu F, Morrissette JJ, Spinner NB. Lu F, et al. Am J Hum Genet. 2003 Apr;72(4):1065-70. doi: 10.1086/374386. Epub 2003 Mar 14. Am J Hum Genet. 2003. PMID: 12649809 Free PMC article.

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. 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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