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Items: 11

1.

Abnormal Glycerol Metabolism in a Child with Global Developmental Delay, Adrenal Insufficiency, and Intellectual Disability.

Almontashiri NAM, Berry GT, Majzoub J, Peake RWA.

Clin Chem. 2018 Dec;64(12):1785-1787. doi: 10.1373/clinchem.2018.293696. No abstract available.

PMID:
30487191
2.

Hyperammonemia in a Child Presenting with Growth Delay, Short Stature, and Diarrhea.

Almontashiri NAM, Demirbas D, Berry GT, Peake RWA.

Clin Chem. 2018 Aug;64(8):1260-1262. doi: 10.1373/clinchem.2018.291146. No abstract available.

PMID:
30054302
3.

Serine Deficiency in a Child with Neurological Presentation, Hearing Loss, and Multiple Congenital Anomalies.

Almontashiri NAM, Rodan LH, Peake RWA.

Clin Chem. 2018 May;64(5):870-872. doi: 10.1373/clinchem.2018.287292. No abstract available.

PMID:
29703746
4.

Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.

Almontashiri NAM, Alswaid A, Oza A, Al-Mazrou KA, Elrehim O, Tayoun AA, Rehm HL, Amr SS.

Genet Med. 2018 Apr;20(5):536-544. doi: 10.1038/gim.2017.143. Epub 2017 Oct 19.

5.

Multiplexed Reference Materials as Controls for Diagnostic Next-Generation Sequencing: A Pilot Investigating Applications for Hypertrophic Cardiomyopathy.

Kudalkar EM, Almontashiri NA, Huang C, Anekella B, Bowser M, Hynes E, Garlick R, Funke BH.

J Mol Diagn. 2016 Nov;18(6):882-889. doi: 10.1016/j.jmoldx.2016.07.005. Epub 2016 Sep 15.

PMID:
27639548
6.

9p21.3 Coronary Artery Disease Risk Variants Disrupt TEAD Transcription Factor-Dependent Transforming Growth Factor β Regulation of p16 Expression in Human Aortic Smooth Muscle Cells.

Almontashiri NA, Antoine D, Zhou X, Vilmundarson RO, Zhang SX, Hao KN, Chen HH, Stewart AF.

Circulation. 2015 Nov 24;132(21):1969-78. doi: 10.1161/CIRCULATIONAHA.114.015023. Epub 2015 Oct 20.

PMID:
26487755
7.

IRF2BP2 Reduces Macrophage Inflammation and Susceptibility to Atherosclerosis.

Chen HH, Keyhanian K, Zhou X, Vilmundarson RO, Almontashiri NA, Cruz SA, Pandey NR, Lerma Yap N, Ho T, Stewart CA, Huang H, Hari A, Geoffrion M, McPherson R, Rayner KJ, Stewart AF.

Circ Res. 2015 Sep 25;117(8):671-83. doi: 10.1161/CIRCRESAHA.114.305777. Epub 2015 Jul 20.

PMID:
26195219
8.

Plasma PCSK9 levels are elevated with acute myocardial infarction in two independent retrospective angiographic studies.

Almontashiri NA, Vilmundarson RO, Ghasemzadeh N, Dandona S, Roberts R, Quyyumi AA, Chen HH, Stewart AF.

PLoS One. 2014 Sep 2;9(9):e106294. doi: 10.1371/journal.pone.0106294. eCollection 2014.

9.

Functional genomics of the 9p21.3 locus for atherosclerosis: clarity or confusion?

Chen HH, Almontashiri NA, Antoine D, Stewart AF.

Curr Cardiol Rep. 2014 Jul;16(7):502. doi: 10.1007/s11886-014-0502-7. Review.

PMID:
24893939
10.

SPG7 variant escapes phosphorylation-regulated processing by AFG3L2, elevates mitochondrial ROS, and is associated with multiple clinical phenotypes.

Almontashiri NA, Chen HH, Mailloux RJ, Tatsuta T, Teng AC, Mahmoud AB, Ho T, Stewart NA, Rippstein P, Harper ME, Roberts R, Willenborg C, Erdmann J; CARDIoGRAM Consortium, Pastore A, McBride HM, Langer T, Stewart AF.

Cell Rep. 2014 May 8;7(3):834-47. doi: 10.1016/j.celrep.2014.03.051. Epub 2014 Apr 24.

11.

Interferon-γ activates expression of p15 and p16 regardless of 9p21.3 coronary artery disease risk genotype.

Almontashiri NA, Fan M, Cheng BL, Chen HH, Roberts R, Stewart AF.

J Am Coll Cardiol. 2013 Jan 15;61(2):143-7. doi: 10.1016/j.jacc.2012.08.1020. Epub 2012 Nov 28.

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