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Items: 1 to 50 of 414

1.

Actin turnover ensures uniform tension distribution during cytokinetic actomyosin ring contraction.

Cheffings TH, Burroughs NJ, Balasubramanian MK.

Mol Biol Cell. 2019 Feb 13:mbcE18080511. doi: 10.1091/mbc.E18-08-0511. [Epub ahead of print]

PMID:
30759055
2.

Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature.

Balasubramanian M, Verschueren A, Kleevens S, Luyckx I, Perik M, Schirwani S, Mortier G, Morisaki H, Rodrigus I, Van Laer L, Verstraeten A, Loeys B.

Bone. 2019 Jan 23;121:191-195. doi: 10.1016/j.bone.2019.01.022. [Epub ahead of print]

PMID:
30684648
3.

Deep phenotyping of fourteen new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype.

Radley JA, O'Sullivan RBG, Turton SE, Cox H, Vogt J, Morton J, Jones E, Smithson S, Lachlan K, Rankin J, Clayton-Smith J, Willoughby J, Elmslie FF, Sansbury FH, Cooper N; Deciphering Developmental Disorders (DDD) study, Balasubramanian M.

Clin Genet. 2019 Jan 21. doi: 10.1111/cge.13507. [Epub ahead of print]

PMID:
30666632
4.

Clinical report follow up: Type 1 Collagenopathy presenting with a Russell-Silver phenotype.

Kanani F, Parker MJ, Burren CP, Rankin J, Balasubramanian M.

Am J Med Genet A. 2019 Jan;179(1):139-140. doi: 10.1002/ajmg.a.60680. Epub 2018 Dec 17. No abstract available.

PMID:
30556288
5.

Quantifying the contribution of recessive coding variation to developmental disorders.

Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M, Stephenson JD, Jones CP, Handsaker J, Gallone G, Bruntraeger M, McRae JF, Prigmore E, Short P, Niemi M, Kaplanis J, Radford EJ, Akawi N, Balasubramanian M, Dean J, Horton R, Hulbert A, Johnson DS, Johnson K, Kumar D, Lynch SA, Mehta SG, Morton J, Parker MJ, Splitt M, Turnpenny PD, Vasudevan PC, Wright M, Bassett A, Gerety SS, Wright CF, FitzPatrick DR, Firth HV, Hurles ME, Barrett JC; Deciphering Developmental Disorders Study.

Science. 2018 Dec 7;362(6419):1161-1164. doi: 10.1126/science.aar6731. Epub 2018 Nov 8.

PMID:
30409806
6.

Exploring the association between SRPX2 variants and neurodevelopment: How causal is it?

Schirwani S, McConnell V, Willoughby J; DDD Study, Balasubramanian M.

Gene. 2019 Feb 15;685:50-54. doi: 10.1016/j.gene.2018.10.067. Epub 2018 Oct 25. Review.

PMID:
30393191
7.

Climate change, famine, and low-income communities challenge Sustainable Development Goals.

Balasubramanian M.

Lancet Planet Health. 2018 Oct;2(10):e421-e422. doi: 10.1016/S2542-5196(18)30212-2. No abstract available.

8.

Opposing kinesin complexes queue at plus tips to ensure microtubule catastrophe at cell ends.

Meadows JC, Messin LJ, Kamnev A, Lancaster TC, Balasubramanian MK, Cross RA, Millar JB.

EMBO Rep. 2018 Nov;19(11). pii: e46196. doi: 10.15252/embr.201846196. Epub 2018 Sep 11.

9.

SLC35A2-related congenital disorder of glycosylation: Defining the phenotype.

Yates TM, Suri M, Desurkar A, Lesca G, Wallgren-Pettersson C, Hammer TB, Raghavan A, Poulat AL, Møller RS, Thuresson AC, Balasubramanian M.

Eur J Paediatr Neurol. 2018 Nov;22(6):1095-1102. doi: 10.1016/j.ejpn.2018.08.002. Epub 2018 Aug 27.

PMID:
30194038
10.

Dental professionals for a new century: Transforming dentistry through interprofessional education and collaborative practice.

Balasubramanian M, Short SD, Gallagher JE.

Indian J Dent Res. 2018 Jul-Aug;29(4):401-403. doi: 10.4103/ijdr.IJDR_495_18. No abstract available.

11.

Synchronous Primary Central Nervous System and Pulmonary Lymphoma in a 7-Year-Old Female with Unspecified T-Cell Immunodeficiency.

Ghali MGZ, Samkari A, Hou JS, Balasubramanian M, Besmer S, Keisling M, Narayan P.

Pediatr Neurosurg. 2018;53(5):311-316. doi: 10.1159/000490728. Epub 2018 Aug 15.

PMID:
30110687
12.

Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170].

Myers KA, White SM, Mohammed S, Metcalfe KA, Fry AE, Wraige E, Vasudevan PC, Balasubramanian M, Scheffer IE.

Epilepsy Res. 2018 Nov;147:121. doi: 10.1016/j.eplepsyres.2018.07.019. Epub 2018 Aug 10. No abstract available.

PMID:
30104120
13.

Trends in Bone Marrow Sampling and Core Biopsy Specimen Adequacy in the United States and Canada: A Multicenter Study.

Merzianu M, Groman A, Hutson A, Cotta C, Brynes RK, Orazi A, Reddy V, Teruya-Feldstein J, Amre R, Balasubramanian M, Brandao G, Cherian S, Courville E, Czuchlewski D, Fan G, Grier D, Hoehn D, Inamdar KV, Juskevicius R, Kaur P, Lazarchick J, Lewis MR, Miles RR, Myers JB, Nasr MR, Qureishi HN, Olteanu H, Robu VG, Salaru G, Vajpayee N, Vos J, Zhang L, Zhang S, Aye L, Brega E, Coad JE, Grantham J, Ivelja S, McKenna R, Sultan K, Wilding G, Hutchison R, Peterson L, Cheney RT.

Am J Clin Pathol. 2018 Oct 1;150(5):393-405. doi: 10.1093/ajcp/aqy066.

PMID:
30052721
14.

Moving from advocacy to activism? The fourth WHO global forum on human resources for health and implications for dentistry.

Balasubramanian M, Davda L, Short SD, Gallagher JE.

Br Dent J. 2018 Jul 27;225(2):119-122. doi: 10.1038/sj.bdj.2018.532.

PMID:
30050220
15.

Response to Finsterer: CPT-II deficiency needs to be detected in army personnel.

Balasubramanian M, Jenkins TM, Kirk RJ, Nesbitt IM, Olpin SE, Hill M, Gillett GT.

Mol Genet Metab Rep. 2018 Jun 8;16:12. doi: 10.1016/j.ymgmr.2018.06.002. eCollection 2018 Sep. No abstract available.

16.

Autism and heritable bone fragility: A true association?

Balasubramanian M, Jones R, Milne E, Marshall C, Arundel P, Smith K, Bishop NJ.

Bone Rep. 2018 Apr 18;8:156-162. doi: 10.1016/j.bonr.2018.04.002. eCollection 2018 Jun.

17.

SHANK3 variant as a cause of nonsyndromal autism in an 11-year-old boy and a review of published literature.

Kanani F, Study D, Balasubramanian M.

Clin Dysmorphol. 2018 Oct;27(4):113-115. doi: 10.1097/MCD.0000000000000232. Review.

PMID:
29939863
18.

MAN1B-CDG: Novel variants with a distinct phenotype and review of literature.

Balasubramanian M, Johnson DS; DDD Study.

Eur J Med Genet. 2019 Feb;62(2):109-114. doi: 10.1016/j.ejmg.2018.06.011. Epub 2018 Jun 14.

PMID:
29908352
19.

Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt.

Balasubramanian M, Jenkins TM, Kirk RJ, Nesbitt IM, Olpin SE, Hill M, Gillett GT.

Mol Genet Metab Rep. 2018 Mar 6;15:69-70. doi: 10.1016/j.ymgmr.2018.02.008. eCollection 2018 Jun.

20.

Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties.

Balasubramanian M, Fratzl-Zelman N, O'Sullivan R, Bull M, Fa Peel N, Pollitt RC, Jones R, Milne E, Smith K, Roschger P, Klaushofer K, Bishop NJ.

Am J Med Genet A. 2018 Jul;176(7):1578-1586. doi: 10.1002/ajmg.a.38830. Epub 2018 May 7.

PMID:
29736964
21.

Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient.

Willoughby J, Duff-Farrier C, Desurkar A, Kurian M, Raghavan A; DDD Study, Balasubramanian M.

Am J Med Genet A. 2018 May;176(5):1049-1054. doi: 10.1002/ajmg.a.38656.

PMID:
29681108
22.

Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability.

Schirwani S, Wakeling E, Smith K; DDD Study, Balasubramanian M.

Am J Med Genet A. 2018 May;176(5):1238-1244. doi: 10.1002/ajmg.a.38683.

PMID:
29681091
23.

Reversible Mn2+/Mn4+ double redox in lithium-excess cathode materials.

Lee J, Kitchaev DA, Kwon DH, Lee CW, Papp JK, Liu YS, Lun Z, Clément RJ, Shi T, McCloskey BD, Guo J, Balasubramanian M, Ceder G.

Nature. 2018 Apr;556(7700):185-190. doi: 10.1038/s41586-018-0015-4. Epub 2018 Apr 11.

24.

Surveillance of human enteric viruses in coastal waters using concentration with methacrylate monolithic supports prior to detection by RT-qPCR.

Gonçalves J, Gutiérrez-Aguirre I, Balasubramanian MN, Zagorščak M, Ravnikar M, Turk V.

Mar Pollut Bull. 2018 Mar;128:307-317. doi: 10.1016/j.marpolbul.2018.01.040. Epub 2018 Feb 6.

25.

Rapid production of pure recombinant actin isoforms in Pichia pastoris.

Hatano T, Alioto S, Roscioli E, Palani S, Clarke ST, Kamnev A, Hernandez-Fernaud JR, Sivashanmugam L, Chapa-Y-Lazo B, Jones AME, Robinson RC, Sampath K, Mishima M, McAinsh AD, Goode BL, Balasubramanian MK.

J Cell Sci. 2018 Apr 23;131(8). pii: jcs213827. doi: 10.1242/jcs.213827.

26.

Reproducibility of TEG Parameters in Stable Cirrhotics.

George G, Manatasahit W, Balasubramanian M, Navarro V.

Lab Med. 2018 Jul 5;49(3):226-230. doi: 10.1093/labmed/lmx041.

PMID:
29529240
27.

L-edge sum rule analysis on 3d transition metal sites: from d10 to d0 and towards application to extremely dilute metallo-enzymes.

Wang H, Friedrich S, Li L, Mao Z, Ge P, Balasubramanian M, Patil DS.

Phys Chem Chem Phys. 2018 Mar 28;20(12):8166-8176. doi: 10.1039/c7cp06624d. Epub 2018 Mar 9.

PMID:
29521394
28.

Equatorial Assembly of the Cell-Division Actomyosin Ring in the Absence of Cytokinetic Spatial Cues.

Lim TC, Hatano T, Kamnev A, Balasubramanian MK, Chew TG.

Curr Biol. 2018 Mar 19;28(6):955-962.e3. doi: 10.1016/j.cub.2018.01.088. Epub 2018 Mar 1.

29.

Exceptional Lithium Storage in a Co(OH)2 Anode: Hydride Formation.

Kim H, Choi WI, Jang Y, Balasubramanian M, Lee W, Park GO, Park SB, Yoo J, Hong JS, Choi YS, Lee HS, Bae IT, Kim JM, Yoon WS.

ACS Nano. 2018 Mar 27;12(3):2909-2921. doi: 10.1021/acsnano.8b00435. Epub 2018 Feb 26.

PMID:
29480713
30.

Effect of diosmin on apoptotic signaling molecules in N-nitrosodiethylamine-induced hepatocellular carcinoma in experimental rats.

Perumal S, Langeshwaran K, Selvaraj J, Ponnulakshmi R, Shyamaladevi B, Balasubramanian MP.

Mol Cell Biochem. 2018 Dec;449(1-2):27-37. doi: 10.1007/s11010-018-3339-3. Epub 2018 Feb 26.

PMID:
29479636
31.

Elite hairy roots of Raphanus sativus (L.) as a source of antioxidants and flavonoids.

Balasubramanian M, Anbumegala M, Surendran R, Arun M, Shanmugam G.

3 Biotech. 2018 Feb;8(2):128. doi: 10.1007/s13205-018-1153-y. Epub 2018 Feb 13.

32.

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK.

Am J Med Genet A. 2018 Apr;176(4):925-935. doi: 10.1002/ajmg.a.38630. Epub 2018 Feb 13.

PMID:
29436146
33.

Health behaviours and quality of life in independently living South Australians aged 75 years or older.

Amarasena N, Keuskamp D, Balasubramanian M, Brennan DS.

Aust Dent J. 2018 Jun;63(2):156-162. doi: 10.1111/adj.12583. Epub 2018 Mar 26.

PMID:
29369369
34.

Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome.

Myers KA, White SM, Mohammed S, Metcalfe KA, Fry AE, Wraige E, Vasudevan PC, Balasubramanian M, Scheffer IE.

Epilepsy Res. 2018 Feb;140:166-170. doi: 10.1016/j.eplepsyres.2018.01.014. Epub 2018 Feb 3. Erratum in: Epilepsy Res. 2018 Aug 10;:.

PMID:
29367179
35.

General health, wellbeing and oral health of patients older than 75 years attending health assessments.

Keuskamp D, Amarasena N, Balasubramanian M, Brennan DS.

Aust J Prim Health. 2018 May;24(2):177-182. doi: 10.1071/PY17060.

PMID:
29338835
36.

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, Hsiao MC, Chen Z, Balasubramanian M, Barnett CP, Becker TA, Ben-Shachar S, Bertola DR, Blakeley JO, Burkitt-Wright EMM, Callaway A, Crenshaw M, Cunha KS, Cunningham M, D'Agostino MD, Dahan K, De Luca A, Destrée A, Dhamija R, Eoli M, Evans DGR, Galvin-Parton P, George-Abraham JK, Gripp KW, Guevara-Campos J, Hanchard NA, Hernández-Chico C, Immken L, Janssens S, Jones KJ, Keena BA, Kochhar A, Liebelt J, Martir-Negron A, Mahoney MJ, Maystadt I, McDougall C, McEntagart M, Mendelsohn N, Miller DT, Mortier G, Morton J, Pappas J, Plotkin SR, Pond D, Rosenbaum K, Rubin K, Russell L, Rutledge LS, Saletti V, Schonberg R, Schreiber A, Seidel M, Siqveland E, Stockton DW, Trevisson E, Ullrich NJ, Upadhyaya M, van Minkelen R, Verhelst H, Wallace MR, Yap YS, Zackai E, Zonana J, Zurcher V, Claes K, Martin Y, Korf BR, Legius E, Messiaen LM.

Am J Hum Genet. 2018 Jan 4;102(1):69-87. doi: 10.1016/j.ajhg.2017.12.001. Epub 2017 Dec 28.

37.

P4HB recurrent missense mutation causing Cole-Carpenter syndrome.

Balasubramanian M, Padidela R, Pollitt RC, Bishop NJ, Mughal MZ, Offiah AC, Wagner BE, McCaughey J, Stephens DJ.

J Med Genet. 2018 Mar;55(3):158-165. doi: 10.1136/jmedgenet-2017-104899. Epub 2017 Dec 20.

38.

Clinical and molecular characterization of the first familial report of 1p32 microdeletion.

Schirwani S, Smith K, Balasubramanian M.

Clin Dysmorphol. 2018 Apr;27(2):36-41. doi: 10.1097/MCD.0000000000000209.

39.

Steric hindrance in the upper 50 kDa domain of the motor Myo2p leads to cytokinesis defects in fission yeast.

Palani S, Srinivasan R, Zambon P, Kamnev A, Gayathri P, Balasubramanian MK.

J Cell Sci. 2018 Jan 4;131(1). pii: jcs205625. doi: 10.1242/jcs.205625.

40.

General health and well-being among primary care patients aged 75+ years: Associations with living conditions, oral health and dependency.

Brennan DS, Keuskamp D, Balasubramanian M, Amarasena N.

Australas J Ageing. 2018 Mar;37(1):E1-E6. doi: 10.1111/ajag.12475. Epub 2017 Nov 13.

PMID:
29131475
41.

Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa.

Low T, Kostakis A, Balasubramanian M.

Ophthalmic Genet. 2018 Apr;39(2):286-287. doi: 10.1080/13816810.2017.1393827. Epub 2017 Nov 7. No abstract available.

42.

Evaluation of Bond Strength between Grooved Titanium Alloy Implant Abutments and Provisional Veneering Materials after Surface Treatment of the Abutments: An In vitro Study.

Venkat G, Krishnan M, Srinivasan S, Balasubramanian M.

Contemp Clin Dent. 2017 Jul-Sep;8(3):395-399. doi: 10.4103/ccd.ccd_118_17.

43.

De novo mutations in HNRNPU result in a neurodevelopmental syndrome.

Yates TM, Vasudevan PC, Chandler KE, Donnelly DE, Stark Z, Sadedin S, Willoughby J; Broad Center for Mendelian Genomics; DDD study, Balasubramanian M.

Am J Med Genet A. 2017 Nov;173(11):3003-3012. doi: 10.1002/ajmg.a.38492. Epub 2017 Sep 25.

44.

De novo SETD5 loss-of-function variant as a cause for intellectual disability in a 10-year old boy with an aberrant blind ending bronchus.

Green C, Willoughby J; DDD Study, Balasubramanian M.

Am J Med Genet A. 2017 Dec;173(12):3165-3171. doi: 10.1002/ajmg.a.38461. Epub 2017 Sep 14.

45.

Spectroscopic sampling of the left side of long-TE spin echoes: a free lunch?

Mulkern RV, Balasubramanian M.

MAGMA. 2018 Apr;31(2):321-340. doi: 10.1007/s10334-017-0647-7. Epub 2017 Sep 7.

PMID:
28884314
46.

A Novel Nanoparticle Mediated Selective Inner Retinal Photocoagulation for Diseases of the Inner Retina.

Singh R, Rajaraman S, Balasubramanian M.

IEEE Trans Nanobioscience. 2017 Oct;16(7):542-554. doi: 10.1109/TNB.2017.2741490. Epub 2017 Aug 18.

47.

The Life Story Experience of "Migrant Dentists" in Australia: Potential Implications for Health Workforce Governance and International Cooperation.

Balasubramanian M, Spencer AJ, Short SD, Watkins K, Chrisopoulos S, Brennan DS.

Int J Health Policy Manag. 2016 Oct 10;6(6):317-326. doi: 10.15171/ijhpm.2016.135.

48.

Cell Polarity in Yeast.

Chiou JG, Balasubramanian MK, Lew DJ.

Annu Rev Cell Dev Biol. 2017 Oct 6;33:77-101. doi: 10.1146/annurev-cellbio-100616-060856. Epub 2017 Aug 7. Review.

49.

Stabilization of Lithium Transition Metal Silicates in the Olivine Structure.

Sun X, Tripathi R, Popov G, Balasubramanian M, Nazar LF.

Inorg Chem. 2017 Aug 21;56(16):9931-9937. doi: 10.1021/acs.inorgchem.7b01453. Epub 2017 Jul 28.

PMID:
28753001
50.

Bridging Zirconia Nodes within a Metal-Organic Framework via Catalytic Ni-Hydroxo Clusters to Form Heterobimetallic Nanowires.

Platero-Prats AE, League AB, Bernales V, Ye J, Gallington LC, Vjunov A, Schweitzer NM, Li Z, Zheng J, Mehdi BL, Stevens AJ, Dohnalkova A, Balasubramanian M, Farha OK, Hupp JT, Browning ND, Fulton JL, Camaioni DM, Lercher JA, Truhlar DG, Gagliardi L, Cramer CJ, Chapman KW.

J Am Chem Soc. 2017 Aug 2;139(30):10410-10418. doi: 10.1021/jacs.7b04997. Epub 2017 Jul 24.

PMID:
28696712

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