Browse by UCL people
Group by: Type | Date
Number of items: 40.
Article
Beck, D;
Ferrada, MA;
Sikora, KA;
Ombrello, AK;
Collins, JC;
Pei, W;
Balanda, N;
... Grayson, PC; + view all
(2020)
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
The New England Journal of Medicine
, 2020
(383)
pp. 2628-2638.
10.1056/NEJMoa2026834.
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Boyle, EM;
Ashby, C;
Wardell, CP;
Rowczenio, D;
Sachchithanantham, S;
Wang, Y;
Johnson, SK;
... Wechalekar, AD; + view all
(2018)
The genomic landscape of plasma cells in systemic light chain amyloidosis.
Blood
, 132
(26)
pp. 2775-2777.
10.1182/blood-2018-08-872226.
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Canetti, D;
Rendell, NB;
Di Vagno, L;
Gilbertson, JA;
Rowczenio, D;
Rezk, T;
Gillmore, JD;
... Taylor, GW; + view all
(2017)
Misidentification of transthyretin and immunoglobulin variants by proteomics due to methyl lysine formation in formalin-fixed paraffin-embedded amyloid tissue.
Amyloid
, 27
(4)
pp. 229-237.
10.1080/13506129.2017.1385452.
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Canetti, D;
Rendell, NB;
Gilbertson, JA;
Botcher, N;
Nocerino, P;
Blanco, A;
Di Vagno, L;
... Taylor, GW; + view all
(2020)
Diagnostic amyloid proteomics: experience of the UK National Amyloidosis Centre.
Clinical Chemistry and Laboratory Medicine
, 58
(6)
pp. 948-957.
10.1515/cclm-2019-1007.
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Chacko, L;
Martone, R;
Bandera, F;
Lane, T;
Martinez-Naharro, A;
Boldrini, M;
Rezk, T;
... Fontana, M; + view all
(2020)
Echocardiographic phenotype and prognosis in transthyretin cardiac amyloidosis.
European Heart Journal
, 41
(14)
pp. 1439-1447.
10.1093/eurheartj/ehz905.
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Gattorno, M;
Hofer, M;
Federici, S;
Vanoni, F;
Bovis, F;
Aksentijevich, I;
Anton, J;
... Ruperto, N; + view all
(2019)
Classification criteria for autoinflammatory recurrent fevers.
Annals of the Rheumatic Diseases
, 78
(8)
pp. 1025-1032.
10.1136/annrheumdis-2019-215048.
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Gillmore, JD;
Damy, T;
Fontana, M;
Hutchinson, M;
Lachmann, HJ;
Martinez-Naharro, A;
Quarta, CC;
... Hawkins, PN; + view all
(2018)
A new staging system for cardiac transthyretin amyloidosis.
European Heart Journal
, 39
(30)
pp. 2799-2806.
10.1093/eurheartj/ehx589.
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Hutt, DF;
Fontana, M;
Burniston, M;
Quigley, AM;
Petrie, A;
Ross, JC;
Page, J;
... Gillmore, JD; + view all
(2017)
Prognostic utility of the Perugini grading of 99mTc-DPD scintigraphy in transthyretin (ATTR) amyloidosis and its relationship with skeletal muscle and soft tissue amyloid.
European Heart Journal - Cardiovascular Imaging
, 18
(12)
pp. 1344-1350.
10.1093/ehjci/jew325.
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Kluk, J;
Rustin, M;
Brogan, PA;
Omoyinmi, E;
Rowczenio, DM;
Willcocks, LC;
Melly, L;
(2013)
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a report of a novel mutation and review of the literature.
[Letter].
British Journal of Dermatology
, 170
(1)
pp. 215-217.
10.1111/bjd.12600.
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Lane, T;
Fontana, M;
Martinez-Naharro, A;
Quarta, CC;
Whelan, CJ;
Petrie, A;
Rowczenio, DM;
... Gillmore, JD; + view all
(2019)
Natural History, Quality of Life, and Outcome in Cardiac Transthyretin Amyloidosis.
Circulation
, 140
(1)
pp. 16-26.
10.1161/CIRCULATIONAHA.118.038169.
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Lane, T;
Pinney, JH;
Gilbertson, JA;
Hutt, DF;
Rowczenio, DM;
Mahmood, S;
Sachchithanantham, S;
... Lachmann, HJ; + view all
(2017)
Changing epidemiology of AA amyloidosis: clinical observations over 25 years at a single national referral centre.
Amyloid: The Journal of Protein Folding Disorders
, 24
(3)
pp. 162-166.
10.1080/13506129.2017.1342235.
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Lane, T;
Rowczenio, DM;
Gilbertson, JA;
Gillmore, JD;
Wechalekar, AD;
Hawkins, PN;
Lachmann, HJ;
(2015)
Empirical use of anakinra in AA amyloidosis of uncertain aetiology.
Pediatric Rheumatology
, 13
(Supp 1)
, Article O70. 10.1186/1546-0096-13-S1-O70.
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Law, S;
Cohen, O;
Lachmann, H;
Rezk, T;
Gilbertson, J;
Rowczenio, D;
Wechalekar, A;
... Gillmore, J; + view all
(2021)
Renal Transplant Outcomes in Amyloidosis.
Nephrology Dialysis Transplantation
, 36
(2)
pp. 355-365.
10.1093/ndt/gfaa293.
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Law, S;
Petrie, A;
Chacko, L;
Cohen, OC;
Ravichandran, S;
Gilbertson, JA;
Rowczenio, D;
... Gillmore, JD; + view all
(2020)
Disease progression in cardiac transthyretin amyloidosis is indicated by serial calculation of National Amyloidosis Centre transthyretin amyloidosis stage.
ESC Heart Failure
10.1002/ehf2.12989.
(In press).
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Liapis, K;
Panagopoulou, P;
Charitaki, E;
Rowczenio, D;
Gilbertson, J;
Papathoma, A;
Kostopoulou, M;
... Kastritis, E; + view all
(2019)
Hereditary systemic amyloidosis caused by K19T apolipoprotein C-II variant.
Amyloid
, 26
(1)
pp. 52-53.
10.1080/13506129.2018.1562442.
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McColgan, P;
Viegas, S;
Gandhi, S;
Bull, K;
Tudor, R;
Sheikh, F;
Pinney, J;
... Reilly, MM; + view all
(2015)
Oculoleptomeningeal Amyloidosis associated with transthyretin Leu12Pro in an African patient.
J Neurol
, 262
(1)
228 - 234.
10.1007/s00415-014-7594-2.
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Meziane, I;
Huhn, S;
da Silva Filho, MI;
Weinhold, N;
Campo, C;
Nickel, J;
Hoffmann, P;
... Hemminki, K; + view all
(2017)
Genome-wide association study of clinical parameters in immunoglobulin light chain amyloidosis in three patient cohorts.
[Letter].
Haematologica
, 102
(10)
e411-e414.
10.3324/haematol.2017.171108.
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Moura, A;
Nocerino, P;
Gilbertson, JA;
Rendell, NB;
Mangione, PP;
Verona, G;
Rowczenio, D;
... Canetti, D; + view all
(2020)
Lysozyme amyloid: evidence for the W64R variant by proteomics in the absence of the wild type protein.
[Letter].
Amyloid
10.1080/13506129.2020.1720637.
(In press).
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Omoyinmi, E;
Melo Gomes, S;
Standing, A;
Rowczenio, DM;
Eleftheriou, D;
Klein, N;
Aróstegui, JI;
... Brogan, PA; + view all
(2014)
Brief Report: Whole-Exome Sequencing Revealing Somatic NLRP3 Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome.
Arthritis Rheumatol
, 66
(1)
197 - 202.
10.1002/art.38217.
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Omoyinmi, E;
Standing, A;
Keylock, A;
Price-Kuehne, F;
Melo Gomes, S;
Rowczenio, D;
Nanthapisal, S;
... Brogan, PA; + view all
(2017)
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
PLoS One
, 12
(7)
, Article e0181874. 10.1371/journal.pone.0181874.
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Pathak, S;
Rowczenio, DM;
Owen, RG;
Doody, GM;
Newton, DJ;
Taylor, C;
Taylor, J;
... Savic, S; + view all
(2019)
Exploratory Study of MYD88 L265P, Rare NLRP3 Variants, and Clonal Hematopoiesis Prevalence in Patients With Schnitzler Syndrome.
Arthritis & Rheumatology
, 71
(12)
pp. 2121-2125.
10.1002/art.41030.
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Quarta, CC;
Gonzalez-Lopez, E;
Gilbertson, JA;
Botcher, N;
Rowczenio, D;
Petrie, A;
Rezk, T;
... Gillmore, JD; + view all
(2017)
Diagnostic sensitivity of abdominal fat aspiration in cardiac amyloidosis.
European Heart Journal
, 38
(24)
pp. 1905-1908.
10.1093/eurheartj/ehx047.
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Rezk, T;
Gilbertson, JA;
Mangione, PP;
Rowczenio, D;
Rendell, N;
Canetti, D;
Lachmann, HJ;
... Gillmore, JD; + view all
(2019)
The complementary role of histology and proteomics for diagnosis and typing of systemic amyloidosis.
Journal of Pathology: Clinical Research
, 5
(3)
pp. 145-153.
10.1002/cjp2.126.
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Rezk, T;
Gilbertson, JA;
Rowczenio, D;
Bass, P;
Lachmann, HJ;
Wechalekar, AD;
Fontana, M;
... Gillmore, JD; + view all
(2018)
Diagnosis, pathogenesis and outcome in leucocyte chemotactic factor 2 (ALECT2) amyloidosis.
Nephrology Dialysis Transplantation
, 33
(2)
pp. 241-247.
10.1093/ndt/gfw375.
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Rowczenio, D;
Quarta, CC;
Fontana, M;
Whelan, CJ;
Martinez-Naharro, A;
Trojer, H;
Baginska, A;
... Lachmann, HJ; + view all
(2019)
Analysis of the TTR gene in the investigation of amyloidosis: A 25 year single UK centre experience.
Human Mutation
, 40
(1)
pp. 90-96.
10.1002/humu.23669.
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Rowczenio, D;
Stensland, M;
de Souza, GA;
Strøm, EH;
Gilbertson, JA;
Taylor, G;
Rendell, N;
... Wien, TN; + view all
(2017)
Renal Amyloidosis Associated With 5 Novel Variants in the Fibrinogen A Alpha Chain Protein.
Kidney International Reports
, 2
(3)
pp. 461-469.
10.1016/j.ekir.2016.11.005.
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Rowczenio, DM;
Gomes, SM;
Arostegui, JI;
Mensa-Vilaro, A;
Omoyinmi, E;
Trojer, H;
Baginska, A;
... Hawkins, PN; + view all
(2017)
Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism - UK Single Center Experience.
Frontiers in Immunology
, 8
, Article 1410. 10.3389/fimmu.2017.01410.
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Rowczenio, DM;
Lachmann, HJ;
(2019)
How to prescribe a genetic test for the diagnosis of autoinflammatory diseases?
[Review].
La Presse Médicale
, 48
(1)
E49-E59.
10.1016/j.lpm.2018.08.015.
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Rowczenio, DM;
Pathak, S;
Arostegui, JI;
Mensa-Vilaro, A;
Omoyinmi, E;
Brogan, P;
Lipsker, D;
... Lachmann, HJ; + view all
(2017)
Molecular genetic investigation, clinical features, and response to treatment in 21 patients with Schnitzler syndrome.
Blood
, 131
(9)
pp. 974-981.
10.1182/blood-2017-10-810366.
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Rowczenio, DM;
Trojer, H;
Omoyinmi, E;
Arostegui, JI;
Arakelov, G;
Mensa-Vilaro, A;
Baginska, A;
... Lachmann, HJ; + view all
(2016)
Brief Report: Association of Tumor Necrosis Factor Receptor–Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-Nucleotide TNFRSF1A Deletion.
Arthritis & Rheumatology
, 68
(8)
pp. 2044-2049.
10.1002/art.39683.
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Rowczenio, DM;
Trojer, H;
Russell, T;
Baginska, A;
Lane, T;
Stewart, NM;
Gillmore, JD;
... Lachmann, HJ; + view all
(2013)
Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature.
Arthritis Research & Therapy
, 15
, Article R30. 10.1186/ar4171.
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Rowczenio, DM;
Youngstein, T;
Trojer, H;
Omoyinmi, E;
Baginska, A;
Brogan, P;
Papadopoulou, C;
... Lachmann, HJ; + view all
(2020)
British kindred with dominant FMF associated with high incidence of AA amyloidosis caused by novel MEFV variant, and a review of the literature.
Rheumatology
, 59
(3)
pp. 554-558.
10.1093/rheumatology/kez334.
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Sharpley, FA;
Fontana, M;
Gilbertson, JA;
Gillmore, JD;
Hawkins, PN;
Mahmood, S;
Manwani, R;
... Lachmann, HJ; + view all
(2020)
Amyloidosis Diagnosed in Solid Organ Transplant Recipients.
Transplantation
, 104
(2)
pp. 415-420.
10.1097/TP.0000000000002813.
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Taylor, GW;
Gilbertson, JA;
Sayed, R;
Blanco, A;
Rendell, NB;
Rowczenio, D;
Rezk, T;
... Gillmore, JD; + view all
(2019)
Proteomic Analysis for the Diagnosis of Fibrinogen Aα-Chain Amyloidosis.
Kidney International Reports
10.1016/j.ekir.2019.04.007.
(In press).
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Tougaard, BG;
Pedersen, KV;
Krag, SR;
Gilbertson, JA;
Rowczenio, D;
Gillmore, JD;
Birn, H;
(2016)
A case report of hereditary apolipoprotein A-I amyloidosis associated with a novel APOA1 mutation and variable phenotype.
European Journal of Medical Genetics
, 59
(9)
pp. 474-477.
10.1016/j.ejmg.2016.05.015.
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Treibel, TA;
Fontana, M;
Gilbertson, JA;
Castelletti, S;
White, SK;
Scully, PR;
Roberts, N;
... Moon, JC; + view all
(2016)
Occult Transthyretin Cardiac Amyloid in Severe Calcific Aortic Stenosis. Prevalence and Prognosis in Patients Undergoing Surgical Aortic Valve Replacement.
Circulation: Cardiovascular Imaging
, 9
(8)
, Article e005066. 10.1161/CIRCIMAGING.116.005066.
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Youngstein, T;
B C Koh, M;
Ros Soto, J;
Rowczenio, D;
Trojer, H;
Lachmann, HJ;
Sofat, N;
(2018)
Adult-onset tumour necrosis factor receptor-associated periodic syndrome presenting as transfusion-dependent refractory haemophagocytosis.
Rheumatology
, 57
(3)
pp. 582-583.
10.1093/rheumatology/kex427.
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Youngstein, T;
Hoffmann, P;
Gül, A;
Lane, T;
Williams, R;
Rowczenio, DM;
Ozdogan, H;
... Lachmann, HJ; + view all
(2017)
International multi-centre study of pregnancy outcomes with interleukin-1 inhibitors.
Rheumatology
10.1093/rheumatology/kex305.
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Conference item
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Rowczenio, D;
Omoyinmi, E;
Trojer, H;
Lane, T;
Brogan, P;
Hawkins, P;
Lachmann, H;
(2015)
First case of somatic mosaicism in TRAPS caused by a novel 24 nucleotides deletion in the TNFRSF1A gene.
Presented at: 8th International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases.
(In press).
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Thesis
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Rowczenio, DM;
(2015)
Genetic Analyses and Phenotypic Studies in Hereditary Systemic Amyloidosis and Autoinflammatory Syndromes.
Doctoral thesis , UCL (University College London).
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