Mihalek I - Search Results

1

A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure.

Hung CY, Volkmar B, Baker JD, Bauer JW, Gussoni E, Hainzl S, Klausegger A, Lorenzo J, Mihalek I, Rittinger O, Tekin M, Dallman JE, Bodamer OA. Hung CY, et al. Among authors: mihalek i. PLoS One. 2017 Dec 11;12(12):e0189324. doi: 10.1371/journal.pone.0189324. eCollection 2017. PLoS One. 2017. PMID: 29228025 Free PMC article.

2

Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.

Koenighofer M, Hung CY, McCauley JL, Dallman J, Back EJ, Mihalek I, Gripp KW, Sol-Church K, Rusconi P, Zhang Z, Shi GX, Andres DA, Bodamer OA. Koenighofer M, et al. Among authors: mihalek i. Clin Genet. 2016 Mar;89(3):359-66. doi: 10.1111/cge.12608. Epub 2015 Jun 4. Clin Genet. 2016. PMID: 25959749 Free PMC article.

3

A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome.

Hung CY, Rodriguez M, Roberts A, Bauer M, Mihalek I, Bodamer O. Hung CY, et al. Among authors: mihalek i. Am J Med Genet A. 2019 Sep;179(9):1866-1871. doi: 10.1002/ajmg.a.61291. Epub 2019 Jul 11. Am J Med Genet A. 2019. PMID: 31297960

4

Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure.

Rohanizadegan M, Abdo SM, O'Donnell-Luria A, Mihalek I, Chen P, Sanders M, Leeman K, Cho M, Hung C, Bodamer O. Rohanizadegan M, et al. Among authors: mihalek i. Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6):a002147. doi: 10.1101/mcs.a002147. Print 2017 Nov. Cold Spring Harb Mol Case Stud. 2017. PMID: 28802248 Free PMC article.

5

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.

Kelly M, Park M, Mihalek I, Rochtus A, Gramm M, Pérez-Palma E, Axeen ET, Hung CY, Olson H, Swanson L, Anselm I, Briere LC, High FA, Sweetser DA; Undiagnosed Diseases Network; Kayani S, Snyder M, Calvert S, Scheffer IE, Yang E, Waugh JL, Lal D, Bodamer O, Poduri A. Kelly M, et al. Among authors: mihalek i. Epilepsia. 2019 Mar;60(3):406-418. doi: 10.1111/epi.14653. Epub 2019 Jan 25. Epilepsia. 2019. PMID: 30682224 Free PMC article.

6

Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III.

Item CB, Mihalek I, Lichtarge O, Jalan A, Vodopiutz J, Muhl A, Bodamer OA. Item CB, et al. Among authors: mihalek i. Mol Genet Metab. 2007 Aug;91(4):379-83. doi: 10.1016/j.ymgme.2007.04.008. Epub 2007 Jun 7. Mol Genet Metab. 2007. PMID: 17560158

7

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.

Morava E, Vodopiutz J, Lefeber DJ, Janecke AR, Schmidt WM, Lechner S, Item CB, Sykut-Cegielska J, Adamowicz M, Wierzba J, Zhang ZH, Mihalek I, Stockler S, Bodamer OA, Lehle L, Wevers RA. Morava E, et al. Among authors: mihalek i. Pediatrics. 2012 Oct;130(4):e1034-9. doi: 10.1542/peds.2011-2711. Epub 2012 Sep 10. Pediatrics. 2012. PMID: 22966035

8

Combining inference from evolution and geometric probability in protein structure evaluation.

Mihalek I, Res I, Yao H, Lichtarge O. Mihalek I, et al. J Mol Biol. 2003 Aug 1;331(1):263-79. doi: 10.1016/s0022-2836(03)00663-6. J Mol Biol. 2003. PMID: 12875851

9

A family of evolution-entropy hybrid methods for ranking protein residues by importance.

Mihalek I, Res I, Lichtarge O. Mihalek I, et al. J Mol Biol. 2004 Mar 5;336(5):1265-82. doi: 10.1016/j.jmb.2003.12.078. J Mol Biol. 2004. PMID: 15037084

10

On itinerant water molecules and detectability of protein-protein interfaces through comparative analysis of homologues.

Mihalek I, Res I, Lichtarge O. Mihalek I, et al. J Mol Biol. 2007 Jun 1;369(2):584-95. doi: 10.1016/j.jmb.2007.03.057. Epub 2007 Mar 24. J Mol Biol. 2007. PMID: 17434530

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

33 results

Search Page