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Results: 1 to 20 of 711

1.

Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene.

van Blitterswijk M, Mullen B, Wojtas A, Heckman MG, Diehl NN, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL 3rd, Neumann M, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R.

Mol Neurodegener. 2014 Sep 20;9:38. doi: 10.1186/1750-1326-9-38.

PMID:
25239657
[PubMed - in process]
Free PMC Article
2.

Audiovisual integration in children listening to spectrally degraded speech.

Maidment DW, Kang HJ, Stewart HJ, Amitay S.

J Speech Lang Hear Res. 2014 Sep 9. doi: 10.1044/2014_JSLHR-S-14-0044. [Epub ahead of print]

PMID:
25203539
[PubMed - as supplied by publisher]
3.

SOX3 DELETION IN MOUSE AND HUMAN IS ASSOCIATED WITH PERSISTENCE OF THE CRANIOPHARYNGEAL CANAL.

Alatzoglou K, Azriyanti A, Rogers N, Ryan F, Curry N, Noakes C, Bignell P, Hall G, Littooij A, Saunders D, Thomas P, Stewart H, Dattani M.

J Clin Endocrinol Metab. 2014 Aug 20:jc20141160. [Epub ahead of print]

PMID:
25140394
[PubMed - as supplied by publisher]
4.

Strain and orientation modulated bandgaps and effective masses of phosphorene nanoribbons.

Han X, Stewart HM, Shevlin SA, Catlow CR, Guo ZX.

Nano Lett. 2014 Aug 13;14(8):4607-14. doi: 10.1021/nl501658d. Epub 2014 Jul 16.

PMID:
24992160
[PubMed - in process]
5.

Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers.

van Blitterswijk M, Mullen B, Heckman MG, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL 3rd, Neumann M, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R.

Neurobiol Aging. 2014 Oct;35(10):2421.e13-7. doi: 10.1016/j.neurobiolaging.2014.04.016. Epub 2014 May 2.

PMID:
24866401
[PubMed - in process]
6.

Marine litter distribution and density in European seas, from the shelves to deep basins.

Pham CK, Ramirez-Llodra E, Alt CH, Amaro T, Bergmann M, Canals M, Company JB, Davies J, Duineveld G, Galgani F, Howell KL, Huvenne VA, Isidro E, Jones DO, Lastras G, Morato T, Gomes-Pereira JN, Purser A, Stewart H, Tojeira I, Tubau X, Van Rooij D, Tyler PA.

PLoS One. 2014 Apr 30;9(4):e95839. doi: 10.1371/journal.pone.0095839. eCollection 2014.

PMID:
24788771
[PubMed - in process]
Free PMC Article
7.

Crosstalk between adrenergic and toll-like receptors in human mesenchymal stem cells and keratinocytes: a recipe for impaired wound healing.

Dasu MR, Ramirez SR, La TD, Gorouhi F, Nguyen C, Lin BR, Mashburn C, Stewart H, Peavy TR, Nolta JA, Isseroff RR.

Stem Cells Transl Med. 2014 Jun;3(6):745-59. doi: 10.5966/sctm.2013-0200. Epub 2014 Apr 23.

PMID:
24760207
[PubMed - indexed for MEDLINE]
8.

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ.

Am J Hum Genet. 2014 May 1;94(5):734-44. doi: 10.1016/j.ajhg.2014.03.015. Epub 2014 Apr 10.

PMID:
24726473
[PubMed - indexed for MEDLINE]
9.

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

Banka S, Lederer D, Benoit V, Jenkins E, Howard E, Bunstone S, Kerr B, McKee S, Lloyd IC, Shears D, Stewart H, White SM, Savarirayan R, Mancini GM, Beysen D, Cohn RD, Grisart B, Maystadt I, Donnai D.

Clin Genet. 2014 Feb 14. doi: 10.1111/cge.12363. [Epub ahead of print]

PMID:
24527667
[PubMed - as supplied by publisher]
10.

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

Martin HC, Kim GE, Pagnamenta AT, Murakami Y, Carvill GL, Meyer E, Copley RR, Rimmer A, Barcia G, Fleming MR, Kronengold J, Brown MR, Hudspith KA, Broxholme J, Kanapin A, Cazier JB, Kinoshita T, Nabbout R; WGS500 Consortium, Bentley D, McVean G, Heavin S, Zaiwalla Z, McShane T, Mefford HC, Shears D, Stewart H, Kurian MA, Scheffer IE, Blair E, Donnelly P, Kaczmarek LK, Taylor JC.

Hum Mol Genet. 2014 Jun 15;23(12):3200-11. doi: 10.1093/hmg/ddu030. Epub 2014 Jan 25.

PMID:
24463883
[PubMed - in process]
Free PMC Article
11.

Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.

Flanagan SE, De Franco E, Lango Allen H, Zerah M, Abdul-Rasoul MM, Edge JA, Stewart H, Alamiri E, Hussain K, Wallis S, de Vries L, Rubio-Cabezas O, Houghton JA, Edghill EL, Patch AM, Ellard S, Hattersley AT.

Cell Metab. 2014 Jan 7;19(1):146-54. doi: 10.1016/j.cmet.2013.11.021.

PMID:
24411943
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.

Livingston JH, Mayer J, Jenkinson E, Kasher P, Stivaros S, Berger A, Cordelli DM, Ferreira P, Jefferson R, Kutschke G, Lundberg S, Ounap K, Prabhakar P, Soh C, Stewart H, Stone J, van der Knaap MS, van Esch H, van Mol C, Wakeling E, Whitney A, Rice GI, Crow YJ.

Neuropediatrics. 2014 Jun;45(3):175-82. doi: 10.1055/s-0033-1364180. Epub 2014 Jan 9.

PMID:
24407470
[PubMed - in process]
13.

BRD4 associates with p53 in DNMT3A-mutated leukemia cells and is implicated in apoptosis by the bromodomain inhibitor JQ1.

Stewart HJ, Horne GA, Bastow S, Chevassut TJ.

Cancer Med. 2013 Dec;2(6):826-35. doi: 10.1002/cam4.146. Epub 2013 Oct 31.

PMID:
24403256
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia.

van Blitterswijk M, Mullen B, Nicholson AM, Bieniek KF, Heckman MG, Baker MC, DeJesus-Hernandez M, Finch NA, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL 3rd, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R.

Acta Neuropathol. 2014 Mar;127(3):397-406. doi: 10.1007/s00401-013-1240-4. Epub 2014 Jan 3.

PMID:
24385136
[PubMed - indexed for MEDLINE]
15.

Characterising the smoking status and quit smoking behaviour of aboriginal health workers in South Australia.

Maksimovic L, Paquet C, Daniel M, Stewart H, Chong A, Lekkas P, Cargo M.

Int J Environ Res Public Health. 2013 Dec 13;10(12):7193-206. doi: 10.3390/ijerph10127193.

PMID:
24351741
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology.

Tee L, Lim DH, Dias RP, Baudement MO, Slater AA, Kirby G, Hancocks T, Stewart H, Hardy C, Macdonald F, Maher ER.

Clin Epigenetics. 2013 Dec 10;5(1):23. doi: 10.1186/1868-7083-5-23.

PMID:
24325814
[PubMed]
Free PMC Article
17.

A specific deficit of imitation in autism spectrum disorder.

Stewart HJ, McIntosh RD, Williams JH.

Autism Res. 2013 Dec;6(6):522-30. doi: 10.1002/aur.1312. Epub 2013 Oct 2.

PMID:
24124055
[PubMed - indexed for MEDLINE]
18.

Molecular detection of BRAF-V600E is superior to flow cytometry for disease evaluation in hairy cell leukaemia.

Rider T, Powell R, Gover R, Ansell R, Bastow S, Ghurye RR, Stewart H, Chevassut T.

Hematol Oncol. 2014 Sep;32(3):158-61. doi: 10.1002/hon.2097. Epub 2013 Oct 7. No abstract available.

PMID:
24123063
[PubMed - in process]
Free Article
19.

The non-primate hepacivirus 5' untranslated region possesses internal ribosomal entry site activity.

Stewart H, Walter C, Jones D, Lyons S, Simmonds P, Harris M.

J Gen Virol. 2013 Dec;94(Pt 12):2657-63. doi: 10.1099/vir.0.055764-0. Epub 2013 Sep 11.

PMID:
24026670
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Age-related kidney transplant outcomes: health disparities amplified in adolescence.

Andreoni KA, Forbes R, Andreoni RM, Phillips G, Stewart H, Ferris M.

JAMA Intern Med. 2013 Sep 9;173(16):1524-32.

PMID:
23896628
[PubMed - indexed for MEDLINE]

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