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Items: 1 to 20 of 296

1.

An acute exposure to intermittent negative airway pressure elicits respiratory long-term facilitation in awake humans.

Griffin HS, Al Humoud S, Benson JG, Cooper BG, Coomaraswamy K, Balanos GM.

Respir Physiol Neurobiol. 2019 Sep;267:20-26. doi: 10.1016/j.resp.2019.05.016. Epub 2019 Jun 6.

PMID:
31176890
2.

Roles for E1-independent replication and E6-mediated p53 degradation during low-risk and high-risk human papillomavirus genome maintenance.

Murakami I, Egawa N, Griffin H, Yin W, Kranjec C, Nakahara T, Kiyono T, Doorbar J.

PLoS Pathog. 2019 May 13;15(5):e1007755. doi: 10.1371/journal.ppat.1007755. eCollection 2019 May.

3.

Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmüller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R.

Genet Med. 2019 Apr 26. doi: 10.1038/s41436-019-0506-1. [Epub ahead of print]

PMID:
31028354
4.

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource, Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA.

Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11.

PMID:
30982612
5.

Refining our understanding of cervical neoplasia and its cellular origins.

Doorbar J, Griffin H.

Papillomavirus Res. 2019 Jun;7:176-179. doi: 10.1016/j.pvr.2019.04.005. Epub 2019 Apr 8. Review.

6.

Utilising a milk-based meal replacement programme in a bariatric patient with poorly controlled type 2 diabetes mellitus.

Maher M, Rafey MF, Griffin H, Cunningham K, Finucane FM.

Endocrinol Diabetes Metab Case Rep. 2019 Apr 8;2019. pii: EDM190008. doi: 10.1530/EDM-19-0008. [Epub ahead of print]

7.

Whole tissue cervical mapping of HPV infection: Molecular evidence for focal latent HPV infection in humans.

Hammer A, de Koning MN, Blaakaer J, Steiniche T, Doorbar J, Griffin H, Mejlgaard E, Svanholm H, Quint WG, Gravitt PE.

Papillomavirus Res. 2019 Jun;7:82-87. doi: 10.1016/j.pvr.2019.02.004. Epub 2019 Feb 14.

8.

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume.

Haworth S, Shapland CY, Hayward C, Prins BP, Felix JF, Medina-Gomez C, Rivadeneira F, Wang C, Ahluwalia TS, Vrijheid M, Guxens M, Sunyer J, Tachmazidou I, Walter K, Iotchkova V, Jackson A, Cleal L, Huffmann J, Min JL, Sass L, Timmers PRHJ; UK10K consortium, Davey Smith G, Fisher SE, Wilson JF, Cole TJ, Fernandez-Orth D, Bønnelykke K, Bisgaard H, Pennell CE, Jaddoe VWV, Dedoussis G, Timpson N, Zeggini E, Vitart V, St Pourcain B.

Nat Commun. 2019 Jan 21;10(1):357. doi: 10.1038/s41467-018-07863-x.

9.

Risk stratification of cervical disease using detection of human papillomavirus (HPV) E4 protein and cellular MCM protein in clinical liquid based cytology samples.

Stevenson A, Kavanagh K, Pan J, Stevenson L, Griffin H, Doorbar J, Scott E, Deeny M, Cuschieri K, Graham SV.

J Clin Virol. 2018 Nov;108:19-25. doi: 10.1016/j.jcv.2018.08.011. Epub 2018 Aug 31.

10.

The Role of Human Papillomaviruses and Polyomaviruses in BRAF-Inhibitor Induced Cutaneous Squamous Cell Carcinoma and Benign Squamoproliferative Lesions.

Purdie KJ, Proby CM, Rizvi H, Griffin H, Doorbar J, Sommerlad M, Feltkamp MC, der Meijden EV, Inman GJ, South AP, Leigh IM, Harwood CA.

Front Microbiol. 2018 Aug 14;9:1806. doi: 10.3389/fmicb.2018.01806. eCollection 2018.

11.

Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution.

Santibanez-Koref M, Griffin H, Turnbull DM, Chinnery PF, Herbert M, Hudson G.

Mitochondrion. 2019 May;46:302-306. doi: 10.1016/j.mito.2018.08.003. Epub 2018 Aug 9.

12.

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.

Burns DT, Donkervoort S, Müller JS, Knierim E, Bharucha-Goebel D, Faqeih EA, Bell SK, AlFaifi AY, Monies D, Millan F, Retterer K, Dyack S, MacKay S, Morales-Gonzalez S, Giunta M, Munro B, Hudson G, Scavina M, Baker L, Massini TC, Lek M, Hu Y, Ezzo D, AlKuraya FS, Kang PB, Griffin H, Foley AR, Schuelke M, Horvath R, Bönnemann CG.

Am J Hum Genet. 2018 May 3;102(5):858-873. doi: 10.1016/j.ajhg.2018.03.011.

13.

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation.

Bansagi B, Phan V, Baker MR, O'Sullivan J, Jennings MJ, Whittaker RG, Müller JS, Duff J, Griffin H, Miller JAL, Gorman GS, Lochmüller H, Chinnery PF, Roos A, Swan LE, Horvath R.

Neurology. 2018 May 22;90(21):e1842-e1848. doi: 10.1212/WNL.0000000000005566. Epub 2018 May 2.

14.

Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons.

Boczonadi V, Meyer K, Gonczarowska-Jorge H, Griffin H, Roos A, Bartsakoulia M, Bansagi B, Ricci G, Palinkas F, Zahedi RP, Bruni F, Kaspar B, Lochmüller H, Boycott KM, Müller JS, Horvath R.

Hum Mol Genet. 2018 Jun 15;27(12):2187-2204. doi: 10.1093/hmg/ddy127.

15.

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmüller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R.

Genet Med. 2018 Oct;20(10):1224-1235. doi: 10.1038/gim.2017.251. Epub 2018 Mar 8. Erratum in: Genet Med. 2019 Apr 26;:.

16.

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies.

Bartsakoulia M, Pyle A, Troncoso-Chandía D, Vial-Brizzi J, Paz-Fiblas MV, Duff J, Griffin H, Boczonadi V, Lochmüller H, Kleinle S, Chinnery PF, Grünert S, Kirschner J, Eisner V, Horvath R.

Hum Mol Genet. 2018 Apr 1;27(7):1186-1195. doi: 10.1093/hmg/ddy033.

17.

Mutations in HPV18 E1^E4 Impact Virus Capsid Assembly, Infectivity Competence, and Maturation.

Biryukov J, Myers JC, McLaughlin-Drubin ME, Griffin HM, Milici J, Doorbar J, Meyers C.

Viruses. 2017 Dec 19;9(12). pii: E385. doi: 10.3390/v9120385.

18.

Rapid Evolution of Primate Type 2 Immune Response Factors Linked to Asthma Susceptibility.

Barber MF, Lee EM, Griffin H, Elde NC.

Genome Biol Evol. 2017 Jun 1;9(6):1757-1765. doi: 10.1093/gbe/evx120.

19.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.

Hendricks AE, Bochukova EG, Marenne G, Keogh JM, Atanassova N, Bounds R, Wheeler E, Mistry V, Henning E, Körner A, Muddyman D, McCarthy S, Hinney A, Hebebrand J, Scott RA, Langenberg C, Wareham NJ, Surendran P, Howson JM, Butterworth AS, Danesh J, Nordestgaard BG, Nielsen SF, Afzal S, Papadia S, Ashford S, Garg S, Millhauser GL, Palomino RI, Kwasniewska A, Tachmazidou I, O'Rahilly S, Zeggini E, Barroso I, Farooqi IS; Understanding Society Scientific Group; EPIC-CVD Consortium; UK10K Consortium.

Sci Rep. 2017 Jun 29;7(1):4394. doi: 10.1038/s41598-017-03054-8.

20.

Modulation of basal cell fate during productive and transforming HPV-16 infection is mediated by progressive E6-driven depletion of Notch.

Kranjec C, Holleywood C, Libert D, Griffin H, Mahmood R, Isaacson E, Doorbar J.

J Pathol. 2017 Aug;242(4):448-462. doi: 10.1002/path.4917.

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