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Items: 1 to 50 of 90

1.

PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.

Bownass L, Abbs S, Armstrong R, Baujat G, Behzadi G, Berentsen RD, Burren C, Calder A, Cormier-Daire V, Newbury-Ecob R, Foulds N, Juliusson PB, Kant SG, Lefroy H, Mehta SG, Merckoll E, Michot C, Monsell F, Offiah AC, Richards A, Rosendahl K, Rustad CF, Shears D, Tveten K, Wellesley D, Wordsworth P; Deciphering Developmental Disorders Study, Smithson S.

Am J Med Genet A. 2019 Sep;179(9):1884-1894. doi: 10.1002/ajmg.a.61282. Epub 2019 Jul 16.

PMID:
31313512
2.

Diagnostic high-throughput sequencing of 2,396 patients with bleeding, thrombotic and platelet disorders.

Downes K, Megy K, Duarte D, Vries M, Gebhart J, Hofer S, Shamardina O, Deevi SVV, Stephens J, Mapeta R, Tuna S, Al Hasso N, Besser MW, Cooper N, Daugherty L, Gleadall N, Greene D, Haimel M, Martin H, Papadia S, Revel-Vilk S, Sivapalaratnam S, Symington E, Thomas W, Thys C, Tolios A, Penkett CJ, Ouwehand WH, Abbs S, Laffan MA, Turro E, Simeoni I, Mumford AD, Henskens YMC, Pabinger I, Gomez K, Freson K.

Blood. 2019 May 7. pii: blood.2018891192. doi: 10.1182/blood.2018891192. [Epub ahead of print]

PMID:
31064749
3.

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.

French CE, Delon I, Dolling H, Sanchis-Juan A, Shamardina O, Mégy K, Abbs S, Austin T, Bowdin S, Branco RG, Firth H; NIHR BioResource—Rare Disease; Next Generation Children Project, Rowitch DH, Raymond FL.

Intensive Care Med. 2019 May;45(5):627-636. doi: 10.1007/s00134-019-05552-x. Epub 2019 Mar 7.

4.

Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia.

Nixon TRW, Richards A, Towns LK, Fuller G, Abbs S, Alexander P, McNinch A, Sandford RN, Snead MP.

Eur J Hum Genet. 2019 Mar;27(3):369-377. doi: 10.1038/s41431-018-0316-y. Epub 2018 Dec 19.

5.

Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches.

Jurkute N, Majander A, Bowman R, Votruba M, Abbs S, Acheson J, Lenaers G, Amati-Bonneau P, Moosajee M, Arno G, Yu-Wai-Man P.

Eur J Hum Genet. 2019 Mar;27(3):494-502. doi: 10.1038/s41431-018-0235-y. Epub 2018 Aug 24. No abstract available.

PMID:
30143805
6.

Adult female with symptomatic AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (NSIAD).

Hague J, Casey R, Bruty J, Legerton T, Abbs S, Oddy S, Powlson AS, Majeed M, Gurnell M, Park SM, Simpson H.

Endocrinol Diabetes Metab Case Rep. 2018 Feb 9;2018. pii: 17-0139. doi: 10.1530/EDM-17-0139. eCollection 2018.

7.

Evaluation of universal immunohistochemical screening of sebaceous neoplasms in a service setting.

Schon K, Rytina E, Drummond J, Simmonds J, Abbs S, Sandford R, Tischkowitz M.

Clin Exp Dermatol. 2018 Jun;43(4):410-415. doi: 10.1111/ced.13359. Epub 2018 Jan 14.

PMID:
29333623
8.

Association Between High-Sensitivity Cardiac Troponin I and Cardiac Events in Elderly Women.

Lewis JR, Lim WH, Wong G, Abbs S, Zhu K, Lim EM, Thompson PL, Prince RL.

J Am Heart Assoc. 2017 Jul 30;6(8). pii: e004174. doi: 10.1161/JAHA.116.004174.

9.

Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.

Clissold RL, Clarke HC, Spasic-Boskovic O, Brugger K, Abbs S, Bingham C, Shaw-Smith C.

BMC Nephrol. 2017 Jul 12;18(1):234. doi: 10.1186/s12882-017-0631-5.

10.

Immuno-nephelometric determination of group streptococcal anti-streptolysin O titres (ASOT) from dried blood spots: Method for validating a new assay.

Joseph J, Kent N, Bowen A, Hart J, Sheel M, Wardrop R, Abbs S, Bazely S, Rybak M.

J Immunol Methods. 2017 Sep;448:59-65. doi: 10.1016/j.jim.2017.05.009. Epub 2017 May 26.

11.

Renal anomalies and lymphedema distichiasis syndrome. A rare association?

Jones GE, Richmond AK, Navti O, Mousa HA, Abbs S, Thompson E, Mansour S, Vasudevan PC.

Am J Med Genet A. 2017 Aug;173(8):2251-2256. doi: 10.1002/ajmg.a.38293. Epub 2017 May 23.

PMID:
28544699
12.

Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.

Hague J, Delon I, Brugger K, Martin H, Sparnon L, Simonic I, Abbs S, Park SM.

Am J Med Genet A. 2017 Jul;173(7):1931-1935. doi: 10.1002/ajmg.a.38261. Epub 2017 May 12.

PMID:
28497491
13.

Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.

Schon K, Spasic-Boskovic O, Brugger K, Graves TD, Abbs S, Park SM, Ambegaonkar G, Armstrong R.

Neurogenetics. 2017 Jan;18(1):49-55. doi: 10.1007/s10048-016-0504-2. Epub 2017 Jan 6.

14.

New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study.

Plaskocinska I, Shipman H, Drummond J, Thompson E, Buchanan V, Newcombe B, Hodgkin C, Barter E, Ridley P, Ng R, Miller S, Dann A, Licence V, Webb H, Tan LT, Daly M, Ayers S, Rufford B, Earl H, Parkinson C, Duncan T, Jimenez-Linan M, Sagoo GS, Abbs S, Hulbert-Williams N, Pharoah P, Crawford R, Brenton JD, Tischkowitz M.

J Med Genet. 2016 Oct;53(10):655-61. doi: 10.1136/jmedgenet-2016-103902. Epub 2016 May 12.

15.

Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation.

Hague J, Delon I, Brugger K, Martin H, Abbs S, Park SM.

Am J Med Genet A. 2016 Jun;170(6):1608-12. doi: 10.1002/ajmg.a.37631. Epub 2016 Mar 21.

PMID:
26996280
16.

Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis.

Luchetti A, Walsh D, Rodger F, Clark G, Martin T, Irving R, Sanna M, Yao M, Robledo M, Neumann HP, Woodward ER, Latif F, Abbs S, Martin H, Maher ER.

Int J Endocrinol. 2015;2015:138573. doi: 10.1155/2015/138573. Epub 2015 Mar 25.

17.

Malignant peripheral nerve sheath tumor in cowden syndrome: a first report.

Taylor A, Delon I, Allinson K, Trotman J, Liu H, Abbs S, Tischkowitz M.

J Neuropathol Exp Neurol. 2015 Apr;74(4):288-92. doi: 10.1097/NEN.0000000000000178.

PMID:
25756585
18.

Unilateral hypoplastic kidney - a novel highly penetrant feature of familial juvenile hyperuricaemic nephropathy.

Plumb LA, Marlais M, Bierzynska A, Martin H, Brugger K, Abbs S, Saleem MA.

BMC Nephrol. 2014 May 9;15:76. doi: 10.1186/1471-2369-15-76.

19.

COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

Storey H, Savige J, Sivakumar V, Abbs S, Flinter FA.

J Am Soc Nephrol. 2013 Dec;24(12):1945-54. doi: 10.1681/ASN.2012100985. Epub 2013 Sep 19.

20.

Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype.

Quinlivan R, Mitsuahashi S, Sewry C, Cirak S, Aoyama C, Mooore D, Abbs S, Robb S, Newton T, Moss C, Birchall D, Sugimoto H, Bushby K, Guglieri M, Muntoni F, Nishino I, Straub V.

Neuromuscul Disord. 2013 Jul;23(7):549-56. doi: 10.1016/j.nmd.2013.04.002. Epub 2013 May 18.

PMID:
23692895
21.

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.

Dlamini N, Voermans NC, Lillis S, Stewart K, Kamsteeg EJ, Drost G, Quinlivan R, Snoeck M, Norwood F, Radunovic A, Straub V, Roberts M, Vrancken AF, van der Pol WL, de Coo RI, Manzur AY, Yau S, Abbs S, King A, Lammens M, Hopkins PM, Mohammed S, Treves S, Muntoni F, Wraige E, Davis MR, van Engelen B, Jungbluth H.

Neuromuscul Disord. 2013 Jul;23(7):540-8. doi: 10.1016/j.nmd.2013.03.008. Epub 2013 Apr 28.

PMID:
23628358
22.

Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene.

Dlamini N, Josifova DJ, Paine SM, Wraige E, Pitt M, Murphy AJ, King A, Buk S, Smith F, Abbs S, Sewry C, Jacques TS, Jungbluth H.

Neuromuscul Disord. 2013 May;23(5):391-8. doi: 10.1016/j.nmd.2013.02.001. Epub 2013 Mar 18.

PMID:
23518311
23.

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.

Scoto M, Cullup T, Cirak S, Yau S, Manzur AY, Feng L, Jacques TS, Anderson G, Abbs S, Sewry C, Jungbluth H, Muntoni F.

Eur J Hum Genet. 2013 Nov;21(11):1249-52. doi: 10.1038/ejhg.2013.31. Epub 2013 Feb 27.

24.

Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.

Maggi L, Scoto M, Cirak S, Robb SA, Klein A, Lillis S, Cullup T, Feng L, Manzur AY, Sewry CA, Abbs S, Jungbluth H, Muntoni F.

Neuromuscul Disord. 2013 Mar;23(3):195-205. doi: 10.1016/j.nmd.2013.01.004. Epub 2013 Feb 8.

PMID:
23394784
25.

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini E, McClelland V, Al-Owain M, Koelker S, Koerner C, Hoffmann GF, Wijburg FA, ten Hoedt AE, Rogers RC, Manchester D, Miyata R, Hayashi M, Said E, Soler D, Kroisel PM, Windpassinger C, Filloux FM, Al-Kaabi S, Hertecant J, Del Campo M, Buk S, Bodi I, Goebel HH, Sewry CA, Abbs S, Mohammed S, Josifova D, Gautel M, Jungbluth H.

Nat Genet. 2013 Jan;45(1):83-7. doi: 10.1038/ng.2497. Epub 2012 Dec 9.

26.

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement.

Cullup T, Lamont PJ, Cirak S, Damian MS, Wallefeld W, Gooding R, Tan SV, Sheehan J, Muntoni F, Abbs S, Sewry CA, Dubowitz V, Laing NG, Jungbluth H.

Neuromuscul Disord. 2012 Dec;22(12):1096-104. doi: 10.1016/j.nmd.2012.06.007. Epub 2012 Jul 10.

PMID:
22784669
27.

Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008.

Clement EM, Feng L, Mein R, Sewry CA, Robb SA, Manzur AY, Mercuri E, Godfrey C, Cullup T, Abbs S, Muntoni F.

Neuromuscul Disord. 2012 Jun;22(6):522-7. doi: 10.1016/j.nmd.2012.01.010. Epub 2012 Apr 3.

PMID:
22480491
28.

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.

Klein A, Lillis S, Munteanu I, Scoto M, Zhou H, Quinlivan R, Straub V, Manzur AY, Roper H, Jeannet PY, Rakowicz W, Jones DH, Jensen UB, Wraige E, Trump N, Schara U, Lochmuller H, Sarkozy A, Kingston H, Norwood F, Damian M, Kirschner J, Longman C, Roberts M, Auer-Grumbach M, Hughes I, Bushby K, Sewry C, Robb S, Abbs S, Jungbluth H, Muntoni F.

Hum Mutat. 2012 Jun;33(6):981-8. doi: 10.1002/humu.22056. Epub 2012 Apr 4. Erratum in: Hum Mutat. 2012 Aug;33(8):1310.

PMID:
22473935
29.

X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10.

Trump N, Cullup T, Verheij JB, Manzur A, Muntoni F, Abbs S, Jungbluth H.

Neuromuscul Disord. 2012 May;22(5):384-8. doi: 10.1016/j.nmd.2011.11.004. Epub 2011 Dec 9.

PMID:
22153990
30.

Clinical utility gene card for: Multi-minicore disease.

Lillis S, Abbs S, Ferreiro A, Muntoni F, Jungbluth H.

Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.180. Epub 2011 Oct 19. No abstract available.

31.

Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients.

Godfrey C, Clement E, Abbs S, Muntoni F.

Muscle Nerve. 2011 Sep;44(3):388-92. doi: 10.1002/mus.22068.

PMID:
21996799
32.

Clinical utility gene card for: Central core disease.

Lillis S, Abbs S, Mueller CR, Muntoni F, Jungbluth H.

Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.179. Epub 2011 Oct 12. No abstract available.

33.

Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations.

Klein A, Jungbluth H, Clement E, Lillis S, Abbs S, Munot P, Pane M, Wraige E, Schara U, Straub V, Mercuri E, Muntoni F.

Arch Neurol. 2011 Sep;68(9):1171-9. doi: 10.1001/archneurol.2011.188.

PMID:
21911697
34.

X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.

McCauley J, Masand N, McGowan R, Rajagopalan S, Hunter A, Michaud JL, Gibson K, Robertson J, Vaz F, Abbs S, Holden ST.

Am J Med Genet A. 2011 Oct;155A(10):2370-80. doi: 10.1002/ajmg.a.33913. Epub 2011 Sep 9.

PMID:
21910217
35.

Molecular genetics external quality assessment pilot scheme for KRAS analysis in metastatic colorectal cancer.

Deans ZC, Tull J, Beighton G, Abbs S, Robinson DO, Butler R.

Genet Test Mol Biomarkers. 2011 Nov;15(11):777-83. doi: 10.1089/gtmb.2010.0239. Epub 2011 Aug 18.

PMID:
21851273
36.

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study.

Cirak S, Arechavala-Gomeza V, Guglieri M, Feng L, Torelli S, Anthony K, Abbs S, Garralda ME, Bourke J, Wells DJ, Dickson G, Wood MJ, Wilton SD, Straub V, Kole R, Shrewsbury SB, Sewry C, Morgan JE, Bushby K, Muntoni F.

Lancet. 2011 Aug 13;378(9791):595-605. doi: 10.1016/S0140-6736(11)60756-3. Epub 2011 Jul 23.

37.

SEPN1-related myopathies: clinical course in a large cohort of patients.

Scoto M, Cirak S, Mein R, Feng L, Manzur AY, Robb S, Childs AM, Quinlivan RM, Roper H, Jones DH, Longman C, Chow G, Pane M, Main M, Hanna MG, Bushby K, Sewry C, Abbs S, Mercuri E, Muntoni F.

Neurology. 2011 Jun 14;76(24):2073-8. doi: 10.1212/WNL.0b013e31821f467c.

PMID:
21670436
38.

King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Dowling JJ, Lillis S, Amburgey K, Zhou H, Al-Sarraj S, Buk SJ, Wraige E, Chow G, Abbs S, Leber S, Lachlan K, Baralle D, Taylor A, Sewry C, Muntoni F, Jungbluth H.

Neuromuscul Disord. 2011 Jun;21(6):420-7. doi: 10.1016/j.nmd.2011.03.006. Epub 2011 Apr 22.

PMID:
21514828
39.

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies.

Robb SA, Sewry CA, Dowling JJ, Feng L, Cullup T, Lillis S, Abbs S, Lees MM, Laporte J, Manzur AY, Knight RK, Mills KR, Pike MG, Kress W, Beeson D, Jungbluth H, Pitt MC, Muntoni F.

Neuromuscul Disord. 2011 Jun;21(6):379-86. doi: 10.1016/j.nmd.2011.02.012. Epub 2011 Mar 25.

PMID:
21440438
40.

Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia.

Munot P, Lashley D, Jungbluth H, Feng L, Pitt M, Robb SA, Palace J, Jayawant S, Kennet R, Beeson D, Cullup T, Abbs S, Laing N, Sewry C, Muntoni F.

Neuromuscul Disord. 2010 Dec;20(12):796-800. doi: 10.1016/j.nmd.2010.07.274. Epub 2010 Oct 14.

PMID:
20951040
41.

RYR1 mutations are a common cause of congenital myopathies with central nuclei.

Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, Müller CR, Ndondo A, Cloke V, Cullup T, Bertini E, Boennemann C, Straub V, Quinlivan R, Dowling JJ, Al-Sarraj S, Treves S, Abbs S, Manzur AY, Sewry CA, Muntoni F, Jungbluth H.

Ann Neurol. 2010 Nov;68(5):717-26. doi: 10.1002/ana.22119.

42.

Familial Alzheimer's disease and inherited prion disease in the UK are poorly ascertained.

Stevens JC, Beck J, Lukic A, Ryan N, Abbs S, Collinge J, Fox NC, Mead S.

J Neurol Neurosurg Psychiatry. 2011 Sep;82(9):1054-7. doi: 10.1136/jnnp.2009.199653. Epub 2010 Aug 27.

PMID:
20802216
43.

Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies.

Abbs S, Tuffery-Giraud S, Bakker E, Ferlini A, Sejersen T, Mueller CR.

Neuromuscul Disord. 2010 Jun;20(6):422-7. doi: 10.1016/j.nmd.2010.04.005. Epub 2010 May 13. No abstract available.

PMID:
20466545
44.

Marked hemiatrophy in carriers of Duchenne muscular dystrophy.

Rajakulendran S, Kuntzer T, Dunand M, Yau SC, Ashton EJ, Storey H, McCauley J, Abbs S, Thonney F, Leturcq F, Lobrinus JA, Yousry T, Farmer S, Holton JL, Hanna MG.

Arch Neurol. 2010 Apr;67(4):497-500. doi: 10.1001/archneurol.2010.58.

PMID:
20385919
45.

Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.

Geranmayeh F, Clement E, Feng LH, Sewry C, Pagan J, Mein R, Abbs S, Brueton L, Childs AM, Jungbluth H, De Goede CG, Lynch B, Lin JP, Chow G, Sousa Cd, O'Mahony O, Majumdar A, Straub V, Bushby K, Muntoni F.

Neuromuscul Disord. 2010 Apr;20(4):241-50. doi: 10.1016/j.nmd.2010.02.001. Epub 2010 Mar 6.

PMID:
20207543
46.

Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Zhou H, Lillis S, Loy RE, Ghassemi F, Rose MR, Norwood F, Mills K, Al-Sarraj S, Lane RJ, Feng L, Matthews E, Sewry CA, Abbs S, Buk S, Hanna M, Treves S, Dirksen RT, Meissner G, Muntoni F, Jungbluth H.

Neuromuscul Disord. 2010 Mar;20(3):166-73. doi: 10.1016/j.nmd.2009.12.005. Epub 2010 Jan 18.

47.

Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation.

Jungbluth H, Cullup T, Lillis S, Zhou H, Abbs S, Sewry C, Muntoni F.

Neuromuscul Disord. 2010 Jan;20(1):49-52. doi: 10.1016/j.nmd.2009.10.005. Epub 2009 Nov 22.

PMID:
19932620
48.

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study.

Kinali M, Arechavala-Gomeza V, Feng L, Cirak S, Hunt D, Adkin C, Guglieri M, Ashton E, Abbs S, Nihoyannopoulos P, Garralda ME, Rutherford M, McCulley C, Popplewell L, Graham IR, Dickson G, Wood MJ, Wells DJ, Wilton SD, Kole R, Straub V, Bushby K, Sewry C, Morgan JE, Muntoni F.

Lancet Neurol. 2009 Oct;8(10):918-28. doi: 10.1016/S1474-4422(09)70211-X. Epub 2009 Aug 25. Erratum in: Lancet Neurol. 2009 Dec;8(12):1083.

49.

Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.

Jungbluth H, Lillis S, Zhou H, Abbs S, Sewry C, Swash M, Muntoni F.

Neuromuscul Disord. 2009 May;19(5):344-7. doi: 10.1016/j.nmd.2009.02.005. Epub 2009 Mar 19.

PMID:
19303294
50.

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.

Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F.

Ann Neurol. 2008 Nov;64(5):573-82. doi: 10.1002/ana.21482.

PMID:
19067344

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