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Results: 1 to 20 of 57

1.

Large-scale discovery of novel genetic causes of developmental disorders.

The Deciphering Developmental Disorders Study; The Deciphering Developmental Disorders Study.

Nature. 2014 Dec 24. doi: 10.1038/nature14135. [Epub ahead of print]

PMID:
25533962
[PubMed - as supplied by publisher]
2.

Developing an outcome measure for excessive saliva management in MND and an evaluation of saliva burden in Sheffield.

McGeachan AJ, Hobson EV, Shaw PJ, McDermott CJ.

Amyotroph Lateral Scler Frontotemporal Degener. 2014 Sep 16:1-6. [Epub ahead of print]

PMID:
25225845
[PubMed - as supplied by publisher]
3.

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.

Schepers D, Doyle AJ, Oswald G, Sparks E, Myers L, Willems PJ, Mansour S, Simpson MA, Frysira H, Maat-Kievit A, Van Minkelen R, Hoogeboom JM, Mortier GR, Titheradge H, Brueton L, Starr L, Stark Z, Ockeloen C, Lourenco CM, Blair E, Hobson E, Hurst J, Maystadt I, Destrée A, Girisha KM, Miller M, Dietz HC, Loeys B, Van Laer L.

Eur J Hum Genet. 2014 Apr 16. doi: 10.1038/ejhg.2014.61. [Epub ahead of print]

PMID:
24736733
[PubMed - as supplied by publisher]
4.

An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.

Hartill VL, Tysoe C, Manning N, Dobbie A, Santra S, Walter J, Caswell R, Koster J, Waterham H, Hobson E.

Am J Med Genet A. 2014 Apr;164A(4):907-14. doi: 10.1002/ajmg.a.36368. Epub 2014 Jan 23.

PMID:
24459067
[PubMed - indexed for MEDLINE]
5.

Mowat-Wilson syndrome associated with craniosynostosis.

Hartill VL, Pendlebury M, Hobson E.

Clin Dysmorphol. 2014 Jan;23(1):16-9. doi: 10.1097/MCD.0000000000000016. No abstract available.

PMID:
24300291
[PubMed - indexed for MEDLINE]
6.

Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome).

Searle C, Jewell R, Kraft J, Stoebe P, Chumas P, Titheradge H, Kraus A, Gencik M, Hobson E.

Clin Dysmorphol. 2014 Jan;23(1):12-5. doi: 10.1097/MCD.0000000000000021. No abstract available.

PMID:
24300290
[PubMed - indexed for MEDLINE]
7.

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium, Rahman N.

Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8.

PMID:
24214728
[PubMed - indexed for MEDLINE]
Free Article
8.

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.

Bode A, Wood SE, Mullins JG, Keramidas A, Cushion TD, Thomas RH, Pickrell WO, Drew CJ, Masri A, Jones EA, Vassallo G, Born AP, Alehan F, Aharoni S, Bannasch G, Bartsch M, Kara B, Krause A, Karam EG, Matta S, Jain V, Mandel H, Freilinger M, Graham GE, Hobson E, Chatfield S, Vincent-Delorme C, Rahme JE, Afawi Z, Berkovic SF, Howell OW, Vanbellinghen JF, Rees MI, Chung SK, Lynch JW.

J Biol Chem. 2013 Nov 22;288(47):33745-59. doi: 10.1074/jbc.M113.509240. Epub 2013 Oct 9.

PMID:
24108130
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.

Poole RL, Docherty LE, Al Sayegh A, Caliebe A, Turner C, Baple E, Wakeling E, Harrison L, Lehmann A, Temple IK, Mackay DJ; International Clinical Imprinting Consortium.

Am J Med Genet A. 2013 Sep;161A(9):2174-82. doi: 10.1002/ajmg.a.36049. Epub 2013 Aug 2.

PMID:
23913548
[PubMed - indexed for MEDLINE]
10.

The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients.

Metzger S, Walter C, Riess O, Roos RA, Nielsen JE, Craufurd D; REGISTRY Investigators of the European Huntington’s Disease Network, Nguyen HP.

PLoS One. 2013 Jul 22;8(7):e68951. doi: 10.1371/journal.pone.0068951. Print 2013.

PMID:
23894380
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Suicidal ideation in a European Huntington's disease population.

Hubers AA, van Duijn E, Roos RA, Craufurd D, Rickards H, Bernhard Landwehrmeyer G, van der Mast RC, Giltay EJ; REGISTRY investigators of the European Huntington's Disease Network.

J Affect Disord. 2013 Oct;151(1):248-58. doi: 10.1016/j.jad.2013.06.001. Epub 2013 Jul 20.

PMID:
23876196
[PubMed - indexed for MEDLINE]
Free Article
12.

Management of sialorrhoea in motor neuron disease: a survey of current UK practice.

Hobson EV, McGeachan A, Al-Chalabi A, Chandran S, Crawley F, Dick D, Donaghy C, Ealing J, Ellis CM, Gorrie G, Hanemann CO, Harrower T, Jung A, Majeed T, Malaspina A, Morrison K, Orrell RW, Pall H, Pinto A, Talbot K, Turner MR, Williams TL, Young CA, Shaw PJ, McDermott CJ.

Amyotroph Lateral Scler Frontotemporal Degener. 2013 Dec;14(7-8):521-7. doi: 10.3109/21678421.2013.790452. Epub 2013 May 7.

PMID:
23647474
[PubMed - indexed for MEDLINE]
13.

A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing.

Searle C, Andresen BS, Wraith E, Higgs J, Gray D, Mills A, Allen KE, Hobson E.

JIMD Rep. 2013;11:13-6. doi: 10.1007/8904_2013_216. Epub 2013 Apr 2.

PMID:
23546811
[PubMed]
Free PMC Article
14.

Act now against new NHS competition regulations: an open letter to the BMA and the Academy of Medical Royal Colleges calls on them to make a joint public statement of opposition to the amended section 75 regulations.

Davis J, Banks I, Wrigley D, Peedell C, Pollock A, McPherson K, McKee M, Irving WL, Crome P, Greenhalgh T, Holland W, Evans D, Maryon-Davis A, Smyth A, Fleming P, Coleman M, Sharp DJ, Whincup P, Logan S, Cook D, Moore R, Rawaf S, McEewen J, West R, Yudkin JS, Clarke A, Finer N, Domizio P, Bambra C, Jones A, Feder G, Scott-Samuel A, Irvine L, Sharma A, Fitchett M, Boomla K, Folb J, Paul A, McCoy D, Tallis R, Burgess-Allen J, Edwards M, Tomlinson J, Colvin D, Gore J, Brown K, Mitchel S, Lau A, Sayer M, Clark L, Silverman R, Marmot S, Rainbow D, Carter L, Mann N, Fielding R, Logan J, Tebboth L, Arnold N, Stobbart K, Cabot K, Finer S, Edwards M, Davies D, Buttivant H, Kraemer S, Newell J, Griffiths A, Fitzgerald R, Macgibbon R, Lee A, Macklon AF, Hobson E, Jenner D, Jacobson B, Timmis A, Salim A, Evans-Jones J, Caan W, Awsare N, Pride N, Suckling R, Bratty C, Rossiter B, Hawkins D, Currie J, Camilleri-Ferrante C, Fluxman J, Bhatti O, Anson J, Etherington R, Lawrence D, Fell H, Clarke E, Ormerod J, Ormerod O, Ireland M, Duncan JA, Chandy R, Mindell J, Mullen P, Bennett-Richards P, Hirst J, Murphy E, Martin P, Lowes S, Fleming P, Grunewald R, Reeve J, Schweiger M, Coates J, Farrelly G, Chamberlain MA, Lewis G, Young J, Scott B, Gibbs J, Landers A, Deveson P, Ingrams G, Leigh M, Gawler J, Ford A, Nixon J, McCartney M, Bareford D, Singh S, Lockwood K, Cripwell M, Ehrhardt P, Bell D, Wortley P, Tomlinson L, Hotchkiss J, Ford S, Turner G, Reissman G, Lewis D, Johnstone C, Tomson M, Torabi P, Bell D, Tomson D, Tulloch A, Johnston S, Dickinson J, McElderry E, Ross W, Holt K, Logan M, Klonin H, Jenner D, Danby J, Goodger V, Puntis J, Dickson H, Gould DA, Livingstone A, Lefevre D, Kendall B, Singh G, Hall P, Darling J, Hamlyn AN, Patel A, Erskine J, Fisher B, Hughes R, Highton C, Venning H, Singer R, Brearey S, Sikorski J, Paintin D, Feehally J, Savage W, Freud KM, Holt VJ, Gill A, Waterston T, Souza Rd, Hopkinson N, Beadsworth M, Franks A, Daley H, Cullinan P, Basarab A, Folb J, Gurling H, Zinkin P, Kirwin S, Buhrs E, Brown R, West A, Marlowe G, Fellows G, Main J, Applebee J, Koperski M, Jones P, Macfarlane A, Beer N, Mason R, West R, Eisner M, Smailes A, Timms P, Knight D, Jones C, Wesby B, Lyttelton L, Morrison R, Bossano D, Walker J, Davies G, Godfrey P, Wolfe I, Nsutebu E, Stevenson N, Cheeroth S, Miller J, Johnson G, Noor R, Hall A, Bostock D, Michael B, Sharvill J, Macpherson J, Lewis D, Ma R, Middleton J, Jeffreys A, Cole J, Boswell JP, Bury B, Mitchison S, Kinmonth AL, Young G, Maclennan I, Munday P.

BMJ. 2013 Mar 20;346:f1819. doi: 10.1136/bmj.f1819. No abstract available.

PMID:
23516260
[PubMed - indexed for MEDLINE]
15.

β-Defensin genomic copy number does not influence the age of onset in Huntington's Disease.

Vittori A, Orth M, Roos RA, Outeiro TF, Giorgini F, Hollox EJ; Registry investigators of the European Huntington's Disease Network.

J Huntingtons Dis. 2013;2(1):107-24. doi: 10.3233/JHD-130002.

PMID:
25057107
[PubMed - indexed for MEDLINE]
16.

Posterior reversible encephalopathy syndrome: a truly treatable neurologic illness.

Hobson EV, Craven I, Blank SC.

Perit Dial Int. 2012 Nov-Dec;32(6):590-4. doi: 10.3747/pdi.2012.00152. No abstract available.

PMID:
23212858
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.

Ogi T, Walker S, Stiff T, Hobson E, Limsirichaikul S, Carpenter G, Prescott K, Suri M, Byrd PJ, Matsuse M, Mitsutake N, Nakazawa Y, Vasudevan P, Barrow M, Stewart GS, Taylor AM, O'Driscoll M, Jeggo PA.

PLoS Genet. 2012;8(11):e1002945. doi: 10.1371/journal.pgen.1002945. Epub 2012 Nov 8.

PMID:
23144622
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Survival on the ark: life history trends in captive parrots.

Young AM, Hobson EA, Lackey LB, Wright TF.

Anim. Conserv.. 2012 Feb 1;15(1):28-53.

PMID:
22389582
[PubMed]
Free PMC Article
19.

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Paulsen JS; PREDICT-HD study of the Huntington Study Group (HSG), Landwehrmeyer GB; REGISTRY study of the European Huntington's Disease Network, Myers RH; HD-MAPS Study Group, MacDonald ME, Gusella JF; COHORT study of the HSG.

Neurology. 2012 Mar 6;78(10):690-5. doi: 10.1212/WNL.0b013e318249f683. Epub 2012 Feb 8.

PMID:
22323755
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Tatton-Brown K, Hanks S, Ruark E, Zachariou A, Duarte Sdel V, Ramsay E, Snape K, Murray A, Perdeaux ER, Seal S, Loveday C, Banka S, Clericuzio C, Flinter F, Magee A, McConnell V, Patton M, Raith W, Rankin J, Splitt M, Strenger V, Taylor C, Wheeler P, Temple KI, Cole T; Childhood Overgrowth Collaboration, Douglas J, Rahman N.

Oncotarget. 2011 Dec;2(12):1127-33.

PMID:
22190405
[PubMed - indexed for MEDLINE]
Free PMC Article

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