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Items: 17

1.

Marked Biatrial Calcification in Long-Term Haemodialysis.

Appadurai V, Burke MT, Frampton A, Nicolae M.

Heart Lung Circ. 2019 Feb 26. pii: S1443-9506(19)30052-6. doi: 10.1016/j.hlc.2019.01.016. [Epub ahead of print] No abstract available.

PMID:
30853524
2.

A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment.

Schork AJ, Won H, Appadurai V, Nudel R, Gandal M, Delaneau O, Revsbech Christiansen M, Hougaard DM, Bækved-Hansen M, Bybjerg-Grauholm J, Giørtz Pedersen M, Agerbo E, Bøcker Pedersen C, Neale BM, Daly MJ, Wray NR, Nordentoft M, Mors O, Børglum AD, Bo Mortensen P, Buil A, Thompson WK, Geschwind DH, Werge T.

Nat Neurosci. 2019 Mar;22(3):353-361. doi: 10.1038/s41593-018-0320-0. Epub 2019 Jan 28.

PMID:
30692689
3.

Sacubitril/Valsartan in Adult Congenital Heart Disease Patients With Chronic Heart Failure - A Single Centre Case Series and Call for an International Registry.

Appadurai V, Thoreau J, Malpas T, Nicolae M.

Heart Lung Circ. 2018 Dec 17. pii: S1443-9506(18)32031-6. doi: 10.1016/j.hlc.2018.12.003. [Epub ahead of print]

PMID:
30686641
4.

Spatial fine-mapping for gene-by-environment effects identifies risk hot spots for schizophrenia.

Fan CC, McGrath JJ, Appadurai V, Buil A, Gandal MJ, Schork AJ, Mortensen PB, Agerbo E, Geschwind SA, Geschwind D, Werge T, Thompson WK, Pedersen CB.

Nat Commun. 2018 Dec 13;9(1):5296. doi: 10.1038/s41467-018-07708-7.

5.

Genetics of suicide attempts in individuals with and without mental disorders: a population-based genome-wide association study.

Erlangsen A, Appadurai V, Wang Y, Turecki G, Mors O, Werge T, Mortensen PB, Starnawska A, Børglum AD, Schork A, Nudel R, Bækvad-Hansen M, Bybjerg-Grauholm J, Hougaard DM, Thompson WK, Nordentoft M, Agerbo E.

Mol Psychiatry. 2018 Aug 16. doi: 10.1038/s41380-018-0218-y. [Epub ahead of print]

PMID:
30116032
6.

Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap.

Gandal MJ, Haney JR, Parikshak NN, Leppa V, Ramaswami G, Hartl C, Schork AJ, Appadurai V, Buil A, Werge TM, Liu C, White KP; CommonMind Consortium; PsychENCODE Consortium; iPSYCH-BROAD Working Group, Horvath S, Geschwind DH.

Science. 2018 Feb 9;359(6376):693-697. doi: 10.1126/science.aad6469.

7.

Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.

Alaimo JT, Besse A, Alston CL, Pang K, Appadurai V, Samanta M, Smpokou P, McFarland R, Taylor RW, Bonnen PE.

Hum Mutat. 2018 Apr;39(4):537-549. doi: 10.1002/humu.23396. Epub 2018 Jan 22.

8.

POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.

Van Maldergem L, Besse A, De Paepe B, Blakely EL, Appadurai V, Humble MM, Piard J, Craig K, He L, Hella P, Debray FG, Martin JJ, Gaussen M, Laloux P, Stevanin G, Van Coster R, Taylor RW, Copeland WC, Mormont E, Bonnen PE.

Ann Clin Transl Neurol. 2016 Nov 16;4(1):4-14. doi: 10.1002/acn3.361. eCollection 2017 Jan.

9.

Personalized medicine approach confirms a milder case of ABAT deficiency.

Besse A, Petersen AK, Hunter JV, Appadurai V, Lalani SR, Bonnen PE.

Mol Brain. 2016 Dec 1;9(1):93.

10.

Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes.

Appadurai V, DeBarber A, Chiang PW, Patel SB, Steiner RD, Tyler C, Bonnen PE.

Mol Genet Metab. 2015 Dec;116(4):298-304. doi: 10.1016/j.ymgme.2015.10.010. Epub 2015 Oct 26.

11.

Identification of Variant-Specific Functions of PIK3CA by Rapid Phenotyping of Rare Mutations.

Dogruluk T, Tsang YH, Espitia M, Chen F, Chen T, Chong Z, Appadurai V, Dogruluk A, Eterovic AK, Bonnen PE, Creighton CJ, Chen K, Mills GB, Scott KL.

Cancer Res. 2015 Dec 15;75(24):5341-54. doi: 10.1158/0008-5472.CAN-15-1654. Epub 2015 Dec 1.

12.

Pharmacokinetics of a novel dosing regimen of oral melatonin in critically ill patients.

Bellapart J, Roberts JA, Appadurai V, Wallis SC, Nuñez-Nuñez M, Boots RJ.

Clin Chem Lab Med. 2016 Mar;54(3):467-72. doi: 10.1515/cclm-2015-0323.

PMID:
26351927
13.

Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease.

Stiles AR, Ferdinandusse S, Besse A, Appadurai V, Leydiker KB, Cambray-Forker EJ, Bonnen PE, Abdenur JE.

Mol Genet Metab. 2015 Aug;115(4):161-7. doi: 10.1016/j.ymgme.2015.05.008. Epub 2015 May 15.

14.

A challenging case of chronic diarrhoea.

Al-Hindawi A, Appadurai V, Ingham G, Seleem M.

Aust Fam Physician. 2015 Jan-Feb;44(1-2):59-62. No abstract available.

15.

The prevalence of doctor-diagnosed angina in 4314 older adults in China and comparison with the Rose angina questionnaire: the 4 province study.

Greaves K, Chen Y, Appadurai V, Hu Z, Schofield P, Chen R.

Int J Cardiol. 2014 Dec 15;177(2):627-8. doi: 10.1016/j.ijcard.2014.09.126. Epub 2014 Oct 2. No abstract available.

PMID:
25443256
16.

Type A aortic dissection secondary to ruptured penetrating ascending aortic ulcer in an immunosuppressed patient.

Appadurai V, Al-Hindawi A, Leschke P, Greaves K.

Heart Lung Circ. 2014 May;23(5):e139-41. doi: 10.1016/j.hlc.2013.12.011. Epub 2014 Jan 22. No abstract available.

PMID:
24529504
17.

Macroscopic haematuria--a urological approach.

Yeoh M, Lai NK, Anderson D, Appadurai V.

Aust Fam Physician. 2013 Mar;42(3):123-6.

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