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Showing 1 to 12 of 13 entries
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Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the .

Journal of neuromuscular diseases

Pyle A, Ramesh V, Bartsakoulia M, Boczonadi V, Gomez-Duran A, Herczegfalvi A, Blakely EL, Smertenko T, Duff J, Eglon G, Moore D, Yu-Wai-Man P, Douroudis K, Santibanez-Koref M, Griffin H, Lochmüller H, Karcagi V, Taylor RW, Chinnery PF, Horvath R.
PMID: 26380172
J Neuromuscul Dis. 2014;1(1):55-63. doi: 10.3233/JND-140003.

BACKGROUND: Behr's syndrome is a classical phenotypic description of childhood-onset optic atrophy combined with various neurological symptoms, including ophthalmoparesis, nystagmus, spastic paraparesis, ataxia, peripheral neuropathy and learning difficulties.OBJECTIVE: Here we describe 4 patients with the classical Behr's syndrome phenotype...

Erratum to: PTESFinder: a computational method to identify post-transcriptional exon shuffling (PTES) events.

BMC bioinformatics

Izuogu OG, Alhasan AA, Alafghani HM, Santibanez-Koref M, Elliott DJ, Jackson MS.
PMID: 26892454
BMC Bioinformatics. 2016 Feb 18;17:92. doi: 10.1186/s12859-016-0949-1.

No abstract available.

Erratum to: Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains.

Acta neuropathologica communications

Wei W, Keogh MJ, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akanbi M, Santibanez-Koref M, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Ironside JW, Chinnery PF.
PMID: 28228164
Acta Neuropathol Commun. 2017 Feb 22;5(1):17. doi: 10.1186/s40478-017-0419-7.

No abstract available.

How Should We Test for Lynch Syndrome? A Review of Current Guidelines and Future Strategies.

Cancers

Gallon R, Gawthorpe P, Phelps RL, Hayes C, Borthwick GM, Santibanez-Koref M, Jackson MS, Burn J.
PMID: 33499123
Cancers (Basel). 2021 Jan 22;13(3). doi: 10.3390/cancers13030406.

International guidelines for the diagnosis of Lynch syndrome (LS) recommend molecular screening of colorectal cancers (CRCs) to identify patients for germline mismatch repair (MMR) gene testing. As our understanding of the LS phenotype and diagnostic technologies have advanced, there...

A de novo paradigm for male infertility.

Nature communications

Oud MS, Smits RM, Smith HE, Mastrorosa FK, Holt GS, Houston BJ, de Vries PF, Alobaidi BKS, Batty LE, Ismail H, Greenwood J, Sheth H, Mikulasova A, Astuti GDN, Gilissen C, McEleny K, Turner H, Coxhead J, Cockell S, Braat DDM, Fleischer K, D'Hauwers KWM, Schaafsma E, Nagirnaja L, Conrad DF, Friedrich C, Kliesch S, Aston KI, Riera-Escamilla A, Krausz C, Gonzaga-Jauregui C, Santibanez-Koref M, Elliott DJ, Vissers LELM, Tüttelmann F, O'Bryan MK, Ramos L, Xavier MJ, van der Heijden GW, Veltman JA.
PMID: 35013161
Nat Commun. 2022 Jan 10;13(1):154. doi: 10.1038/s41467-021-27132-8.

De novo mutations are known to play a prominent role in sporadic disorders with reduced fitness. We hypothesize that de novo mutations play an important role in severe male infertility and explain a portion of the genetic causes of...

HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development.

Frontiers in neuroanatomy

Lindsay SJ, Xu Y, Lisgo SN, Harkin LF, Copp AJ, Gerrelli D, Clowry GJ, Talbot A, Keogh MJ, Coxhead J, Santibanez-Koref M, Chinnery PF.
PMID: 27833533
Front Neuroanat. 2016 Oct 26;10:86. doi: 10.3389/fnana.2016.00086. eCollection 2016.

No abstract available.

Respiratory chain deficiency in nonmitochondrial disease.

Neurology. Genetics

Pyle A, Nightingale HJ, Griffin H, Abicht A, Kirschner J, Baric I, Cuk M, Douroudis K, Feder L, Kratz M, Czermin B, Kleinle S, Santibanez-Koref M, Karcagi V, Holinski-Feder E, Chinnery PF, Horvath R.
PMID: 27066545
Neurol Genet. 2015 Apr 27;1(1):e6. doi: 10.1212/NXG.0000000000000006. eCollection 2015 Jun.

OBJECTIVE: In this study, we report 5 patients with heterogeneous phenotypes and biochemical evidence of respiratory chain (RC) deficiency; however, the molecular diagnosis is not mitochondrial disease.METHODS: The reported patients were identified from a cohort of 60 patients in...

Publisher Correction: Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux.

Scientific reports

Darlow JM, Darlay R, Dobson MG, Stewart A, Charoen P, Southgate J, Baker SC, Xu Y, Hunziker M, Lambert HJ, Green AJ, Santibanez-Koref M, Sayer JA, Goodship THJ, Puri P, Woolf AS, Kenda RB, Barton DE, Cordell HJ.
PMID: 29311702
Sci Rep. 2018 Jan 08;8(1):459. doi: 10.1038/s41598-017-17992-w.

A correction to this article has been published and is linked from the HTML version of this paper. The error has been fixed in the paper.

Sebaceous tumours: a prototypical class of skin tumour for universal germline genetic testing.

The British journal of dermatology

Gallon R, Kibbi N, Cook S, Santibanez-Koref M, Jackson MS, Burn J, Rajan N.
PMID: 34050928
Br J Dermatol. 2021 Nov;185(5):1045-1046. doi: 10.1111/bjd.20522. Epub 2021 Jul 22.

No abstract available.

A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.

Clinical kidney journal

Edwards N, Rice SJ, Raman S, Hynes AM, Srivastava S, Moore I, Al-Hamed M, Xu Y, Santibanez-Koref M, Thwaites DT, Gale DP, Sayer JA.
PMID: 25713721
Clin Kidney J. 2015 Feb;8(1):113-9. doi: 10.1093/ckj/sfu129. Epub 2014 Dec 05.

End-stage renal disease (ESRD) presenting in a familial autosomal dominant pattern points to an underlying monogenic cause. Nail-patella syndrome (NPS) is an autosomal dominant disorder that may lead to ESRD caused by mutations in the transcription factor LMX1B. Renal-limited...

NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome.

JIMD reports

Marina AD, Schara U, Pyle A, Möller-Hartmann C, Holinski-Feder E, Abicht A, Czermin B, Lochmüller H, Griffin H, Santibanez-Koref M, Chinnery PF, Horvath R.
PMID: 23430795
JIMD Rep. 2013;10:17-22. doi: 10.1007/8904_2012_195. Epub 2012 Nov 18.

With over 1,000 nuclear genes that could potentially cause a mitochondrial disorder, the current diagnostic approach requires targeted molecular analysis, guided by a combination of clinical and biochemical features. However, the expanding molecular and clinical spectrum means that this...

Scientific Business Abstracts of the 113th Annual Meeting of the Association of Physicians of Great Britain and Ireland.

QJM : monthly journal of the Association of Physicians

Cacciottolo TM, Perikari A, van der Klaauw A, Henning E, Stadler LKJ, Keogh J, Farooqi IS, Tenin G, Keavney B, Ryan E, Budd R, Bewley M, Coelho P, Rumsey W, Sanchez Y, McCafferty J, Dockrell D, Walmsley S, Whyte M, Liu Y, Choy MK, Tenin G, Abraham S, Black G, Keavney B, Ford T, Stanley B, Good R, Rocchiccioli P, McEntegart M, Watkins S, Eteiba H, Shaukat A, Lindsay M, Robertson K, Hood S, McGeoch R, McDade R, Sidik N, McCartney P, Corcoran D, Collison D, Rush C, McConnachie A, Touyz R, Oldroyd K, Berry C, Gazdagh G, Diver L, Marshall J, McGowan R, Ahmed F, Tobias E, Curtis E, Parsons C, Maslin K, D'Angelo S, Moon R, Crozier S, Gossiel F, Bishop N, Kennedy S, Papageorghiou A, Fraser R, Gandhi S, Prentice A, Inskip H, Godfrey K, Schoenmakers I, Javaid MK, Eastell R, Cooper C, Harvey N, Watt ER, Howden A, Mirchandani A, Coelho P, Hukelmann JL, Sadiku P, Plant TM, Cantrell DA, Whyte MKB, Walmsley SR, Mordi I, Forteath C, Wong A, Mohan M, Palmer C, Doney A, Rena G, Lang C, Gray EH, Azarian S, Riva A, Edwards H, McPhail MJW, Williams R, Chokshi S, Patel VC, Edwards LA, Page D, Miossec M, Williams S, Monaghan R, Fotiou E, Santibanez-Koref M, Keavney B, Badat M, Mettananda S, Hua P, Schwessinger R, Hughes J, Higgs D, Davies J.
PMID: 31505685
QJM. 2019 Sep 01;112(9):724-729. doi: 10.1093/qjmed/hcz175.

No abstract available.

Showing 1 to 12 of 13 entries