Hucthagowder V - Search Results

1

Population differences in elastin maturation in optic nerve head tissue and astrocytes.

Urban Z, Agapova O, Hucthagowder V, Yang P, Starcher BC, Hernandez MR. Urban Z, et al. Among authors: hucthagowder v. Invest Ophthalmol Vis Sci. 2007 Jul;48(7):3209-15. doi: 10.1167/iovs.07-0107. Invest Ophthalmol Vis Sci. 2007. PMID: 17591890

2

Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.

Hucthagowder V, Sausgruber N, Kim KH, Angle B, Marmorstein LY, Urban Z. Hucthagowder V, et al. Am J Hum Genet. 2006 Jun;78(6):1075-80. doi: 10.1086/504304. Epub 2006 Apr 10. Am J Hum Genet. 2006. PMID: 16685658 Free PMC article.

3

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.

Hucthagowder V, Morava E, Kornak U, Lefeber DJ, Fischer B, Dimopoulou A, Aldinger A, Choi J, Davis EC, Abuelo DN, Adamowicz M, Al-Aama J, Basel-Vanagaite L, Fernandez B, Greally MT, Gillessen-Kaesbach G, Kayserili H, Lemyre E, Tekin M, Türkmen S, Tuysuz B, Yüksel-Konuk B, Mundlos S, Van Maldergem L, Wevers RA, Urban Z. Hucthagowder V, et al. Hum Mol Genet. 2009 Jun 15;18(12):2149-65. doi: 10.1093/hmg/ddp148. Epub 2009 Mar 25. Hum Mol Genet. 2009. PMID: 19321599 Free PMC article.

4

Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.

Jelsig AM, Urban Z, Hucthagowder V, Nissen H, Ousager LB. Jelsig AM, et al. Among authors: hucthagowder v. Eur J Med Genet. 2017 Feb;60(2):110-113. doi: 10.1016/j.ejmg.2016.11.004. Epub 2016 Nov 16. Eur J Med Genet. 2017. PMID: 27866049 Free PMC article.

5

Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development.

Urban Z, Hucthagowder V, Schürmann N, Todorovic V, Zilberberg L, Choi J, Sens C, Brown CW, Clark RD, Holland KE, Marble M, Sakai LY, Dabovic B, Rifkin DB, Davis EC. Urban Z, et al. Among authors: hucthagowder v. Am J Hum Genet. 2009 Nov;85(5):593-605. doi: 10.1016/j.ajhg.2009.09.013. Epub 2009 Oct 15. Am J Hum Genet. 2009. PMID: 19836010 Free PMC article.

6

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.

Callewaert B, Renard M, Hucthagowder V, Albrecht B, Hausser I, Blair E, Dias C, Albino A, Wachi H, Sato F, Mecham RP, Loeys B, Coucke PJ, De Paepe A, Urban Z. Callewaert B, et al. Among authors: hucthagowder v. Hum Mutat. 2011 Apr;32(4):445-55. doi: 10.1002/humu.21462. Epub 2011 Mar 1. Hum Mutat. 2011. PMID: 21309044 Free PMC article.

7

Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst.

Hucthagowder V, Liu TC, Paciorkowski AR, Thio LL, Keller MS, Anderson CD, Herman T, Dehner LP, Grange DK, Kulkarni S. Hucthagowder V, et al. Eur J Med Genet. 2012 Aug-Sep;55(8-9):485-9. doi: 10.1016/j.ejmg.2012.04.003. Epub 2012 Apr 22. Eur J Med Genet. 2012. PMID: 22579565

8

Resequencing analysis of the candidate tyrosine kinase and RAS pathway gene families in multiple myeloma.

Hucthagowder V, Meyer R, Mullins C, Nagarajan R, DiPersio JF, Vij R, Tomasson MH, Kulkarni S. Hucthagowder V, et al. Cancer Genet. 2012 Sep;205(9):474-8. doi: 10.1016/j.cancergen.2012.06.007. Cancer Genet. 2012. PMID: 22939401 Free PMC article.

9

Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum.

Hucthagowder V, Shenoy A, Corliss M, Vigh-Conrad KA, Storer C, Grange DK, Cottrell CE. Hucthagowder V, et al. Clin Genet. 2017 Jan;91(1):79-85. doi: 10.1111/cge.12819. Epub 2016 Jul 26. Clin Genet. 2017. PMID: 27307077

10

Genetic alterations in renal cell carcinoma with rhabdoid differentiation.

Perrino CM, Hucthagowder V, Evenson M, Kulkarni S, Humphrey PA. Perrino CM, et al. Among authors: hucthagowder v. Hum Pathol. 2015 Jan;46(1):9-16. doi: 10.1016/j.humpath.2014.09.001. Epub 2014 Sep 21. Hum Pathol. 2015. PMID: 25439741

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