Rowczenio, D: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

1

Five novel TTR variants: associated phenotypes and structural consequences

Rowczenio, Dorota, Lachmann, Helen, Wechalekar, Ashutosh, Gilbertson, Janet, Fontana, Marianna, Whelan, Carol, Gillmore, Julian, Hawkins, Philip

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 222 KB

english, 2015

2

Echocardiographic phenotype and prognosis in transthyretin cardiac amyloidosis

Chacko, Liza, Martone, Raffaele, Bandera, Francesco, Lane, Thirusha, Martinez-Naharro, Ana, Boldrini, Michele, Rezk, Tamer, Whelan, Carol, Quarta, Cristina, Rowczenio, Dorota, Gilbertson, Janet A, Won

Journal:

European Heart Journal

Year:

2020

Language:

english

File:

PDF, 908 KB

english, 2020

3

Diagnostic value of fat aspirates for amyloidosis in 950 patients

Gilbertson, JA, Botcher, NA, Rowczenio, D, Whelan, C, Lachmann, HJ, Wechalekar, A, Gillmore, JD, Hawkins, PN

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 222 KB

english, 2015

4

Transthyretin-related Familial Amyloid Polyneuropathy (TTR-FAP) caused by a very rare, de novo mutation in a Polish patient.

Lipowska, Marta, Rowczenio, Dorota, Gilbertson, Janet, Hawkins, Philip N, Ptasinska-Perkowska, Agnieszka, Drac, Hanna

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 224 KB

english, 2015

5

CMR-Based Differentiation of AL and ATTR Cardiac Amyloidosis

Dungu, Jason N., Valencia, Oswaldo, Pinney, Jennifer H., Gibbs, Simon D.J., Rowczenio, Dorota, Gilbertson, Janet A., Lachmann, Helen J., Wechalekar, Ashutosh, Gillmore, Julian D., Whelan, Carol J., Ha

Journal:

Journal of the American College of Cardiology: Cardiovascular Imaging

Year:

2014

Language:

english

File:

PDF, 691 KB

english, 2014

6

Empirical use of anakinra in AA amyloidosis of uncertain aetiology

Lane, T, Rowczenio, DM, Gilbertson, JA, Gillmore, JD, Wechalekar, AD, Hawkins, PN, Lachmann, HJ

Journal:

Pediatric Rheumatology

Year:

2015

Language:

english

File:

PDF, 261 KB

english, 2015

7

British kindred with dominant FMF associated with high incidence of AA amyloidosis caused by novel MEFV variant, and a review of the literature

Rowczenio, Dorota M, Youngstein, Taryn, Trojer, Hadija, Omoyinmi, Ebun, Baginska, Anna, Brogan, Paul, Papadopoulou, Charalampia, Rezk, Tamer, Hawkins, Philip N, Lachmann, Helen J

Journal:

Year:

2019

Language:

english

File:

PDF, 247 KB

english, 2019

8

Natural History, Quality of Life, and Outcome in Cardiac Transthyretin Amyloidosis

Lane, Thirusha, Fontana, Marianna, Martinez-Naharro, Ana, Quarta, Candida Cristina, Whelan, Carol J., Petrie, Aviva, Rowczenio, Dorota M., Gilbertson, Janet A., Hutt, David F., Rezk, Tamer, Strehina,

Journal:

Year:

2019

File:

PDF, 653 KB

2019

9

Online Registry for Mutations in Hereditary Amyloidosis Including Nomenclature Recommendations

Rowczenio, Dorota M., Noor, Islam, Gillmore, Julian D., Lachmann, Helen J., Whelan, Carol, Hawkins, Philip N., Obici, Laura, Westermark, Per, Grateau, Gilles, Wechalekar, Ashutosh D.

Journal:

Year:

2014

Language:

english

File:

PDF, 689 KB

english, 2014

10

Outcome in Renal AL Amyloidosis After Chemotherapy

Pinney, J. H., Lachmann, H. J., Bansi, L., Wechalekar, A. D., Gilbertson, J. A., Rowczenio, D., Sattianayagam, P. T., Gibbs, S. D. J., Orlandi, E., Wassef, N. L., Bradwell, A. R., Hawkins, P. N., Gill

Journal:

Journal of Clinical Oncology

Year:

2011

Language:

english

File:

PDF, 141 KB

english, 2011

11

An unusual phenotype in Muckle-Wells syndrome associated with NLRP3 E311K

Murphy, G., Daly, M., O'Sullivan, M., Stack, J., Rowczenio, D., Lachmann, H., Shanahan, F., Harney, S., Hawkins, P., Molloy, M.

Journal:

Year:

2011

Language:

english

File:

PDF, 38 KB

english, 2011

12

Misidentification of transthyretin and immunoglobulin variants by proteomics due to methyl lysine formation in formalin-fixed paraffin-embedded amyloid tissue

Canetti, Diana, Rendell, Nigel Brian, Di Vagno, Lucia, Gilbertson, Janet A., Rowczenio, Dorota, Rezk, Tamar, Gillmore, Julian D., Hawkins, Phillip N., Verona, Guglielmo, Mangione, Palma Patrizia, Gior

Journal:

Year:

2017

Language:

english

File:

PDF, 1.16 MB

english, 2017

13

SAT0010 A Targeted Next-Generation Sequencing Gene Panel for Autoinflammation

Omoyinmi, E., Standing, A., Keylock, A., Rowczenio, D., Melo Gomes, S., Cullup, T., Jenkins, L., Gilmour, K., Eleftheriou, D., Lachmann, H., Hawkins, P., Klein, N., Brogan, P.

Journal:

Annals of the Rheumatic Diseases

Year:

2016

Language:

english

File:

PDF, 65 KB

english, 2016

14

P03-017 - Health related quality of life in adult with HRFS

HJ Lachmann,N Stewart,T Lane,DM Rowczenio,PN Hawkins

Journal:

Pediatric Rheumatology

Year:

2013

Language:

english

File:

PDF, 97 KB

english, 2013

15

Natural history and outcomes in localised immunoglobulin light-chain amyloidosis: a long-term observational study

Mahmood, Shameem, Bridoux, Frank, Venner, Christopher P, Sachchithanantham, Sajitha, Gilbertson, Janet A, Rowczenio, Dorota, Wagner, Thomas, Sayed, Rabya, Patel, Ketna, Fontana, Marianna, Whelan, Caro

Journal:

The Lancet Haematology

Year:

2015

Language:

english

File:

PDF, 1.42 MB

english, 2015

16

Clinical characteristics and SAP scintigraphic findings in 10 patients with AGel amyloidosis

Rowczenio, Dorota, Tennent, Glenys A., Gilbertson, Janet, Lachmann, Helen J., Hutt, David F., Bybee, Alison, Hawkins, Philip N., Gillmore, Julian D.

Journal:

Year:

2014

Language:

english

File:

PDF, 316 KB

english, 2014

17

Renal Transplantation in Systemic Amyloidosis-Importance of Amyloid Fibril Type and Precursor Protein Abundance

Pinney, J. H., Lachmann, H. J., Sattianayagam, P. T., Gibbs, S. D. J., Wechalekar, A. D., Venner, C. P., Whelan, C. J., Gilbertson, J. A., Rowczenio, D., Hawkins, P. N., Gillmore, J. D.

Journal:

American Journal of Transplantation

Year:

2013

Language:

english

File:

PDF, 570 KB

english, 2013

18

P02-010 - A novel 24 nucleotide deletion in the TNFRSF1A

DM Rowczenio,H Trojer,G Wang,PN Hawkins,HJ Lachmann…

Journal:

Pediatric Rheumatology

Year:

2013

Language:

english

File:

PDF, 99 KB

english, 2013

19

Novel gelsolin variant as the cause of nephrotic syndrome and renal amyloidosis in a large kindred

Efebera, Yvonne A., Sturm, Amy, Baack, Elizabeth C., Hofmeister, Craig C., Satoskar, Anjali, Nadasdy, Tibor, Nadasdy, Gyongyi, Benson, Don M., Gillmore, Julian D., Hawkins, Philip N., Rowczenio, Dorot

Journal:

Year:

2014

Language:

english

File:

PDF, 924 KB

english, 2014

20

Evidence of B Cell Clonality and Investigation Into Properties of the IgM in Patients With Schnitzler Syndrome

Pathak, Shelly, Rowczenio, Dorota, Lara-Reyna, Samuel, Kacar, Mark, Owen, Roger, Doody, Gina, Krause, Karoline, Lachmann, Helen, Doffinger, Rainer, Newton, Darren, Savic, Sinisa

Journal:

Frontiers in Immunology

Year:

2020

File:

PDF, 1.00 MB

2020

21

Cardiac phenotype and clinical outcome of familial amyloid polyneuropathy associated with transthyretin alanine 60 variant

Sattianayagam, P. T., Hahn, A. F., Whelan, C. J., Gibbs, S. D. J., Pinney, J. H., Stangou, A. J., Rowczenio, D., Pflugfelder, P. W., Fox, Z., Lachmann, H. J., Wechalekar, A. D., Hawkins, P. N., Gillmo

Journal:

European Heart Journal

Year:

2012

Language:

english

File:

PDF, 291 KB

english, 2012

22

Diagnosis, Pathogenesis, Treatment, and Prognosis of Hereditary Fibrinogen A -Chain Amyloidosis

Gillmore, J. D., Lachmann, H. J., Rowczenio, D., Gilbertson, J. A., Zeng, C.-H., Liu, Z.-H., Li, L.-S., Wechalekar, A., Hawkins, P. N.

Journal:

Journal of the American Society of Nephrology

Year:

2009

Language:

english

File:

PDF, 651 KB

english, 2009

23

Deletion inMEFVresulting in the loss of p.M694 residue as the cause of autosomal dominant familial Mediterranean fever in North Western European Caucasians - a case series and genetic exploration

D Rowczenio,D Iancu,H Trojer,J Gilbertson,J Gillmore…

Journal:

Pediatric Rheumatology

Year:

2015

Language:

english

File:

PDF, 227 KB

english, 2015

24

International multi-centre study of pregnancy outcomes with interleukin-1 inhibitors

Youngstein, Taryn, Hoffmann, Patrycja, Gül, Ahmet, Lane, Thirusha, Williams, Rene, Rowczenio, Dorota M., Ozdogan, Huri, Ugurlu, Serdal, Ryan, John, Harty, Len, Riminton, Sean, Headley, Alex P., Roesle

Journal:

Year:

2017

Language:

english

File:

PDF, 77 KB

english, 2017

25

Molecular genetic investigation, clinical features and response to treatment in 21 patients with Schnitzler's syndrome

Rowczenio, Dorota M., Pathak, Shelly, Arostegui, Juan I., Mensa-Vilaro, Anna, Omoyinmi, Ebun, Brogan, Paul, Lipsker, Dan, Scambler, Thomas, Owen, Roger, Trojer, Hadija, Baginska, Anna, Gillmore, Julia

Journal:

Year:

2017

Language:

english

File:

PDF, 798 KB

english, 2017

26

Clinical characteristics in subjects withNLRP3V198M diagnosed at a single UK center and a review of the literature

Dorota M Rowczenio, Hadija Trojer, Tonia Russell…

Journal:

Arthritis Research & Therapy

Year:

2013

Language:

english

File:

PDF, 286 KB

english, 2013

27

OR14-002 - ANTI IL-1 therapies and pregnancy outcome

HJ Lachmann,H Ozdogan,A Simon,N Stewart,DM Rowczenio…

Journal:

Pediatric Rheumatology

Year:

2013

Language:

english

File:

PDF, 98 KB

english, 2013

28

Natural History, Quality of Life, and Outcome in Cardiac Transthyretin Amyloidosis

Lane, Thirusha, Fontana, Marianna, Martinez-Naharro, Ana, Quarta, Candida Cristina, Whelan, Carol J., Petrie, Aviva, Rowczenio, Dorota M., Gilbertson, Janet A., Hutt, David F., Rezk, Tamer, Strehina,

Journal:

Year:

2019

Language:

english

File:

PDF, 653 KB

english, 2019

29

[BMJ Publishing Group Ltd and European League Against Rheumatism Annual European Congress of Rheumatology, EULAR 2019, Madrid, 12â15 June 2019 - ()] Other orphan diseases - FRI0599âAA AMYLOIDOSIS IN RECIPIENTS OF CADAVERIC DERIVED PITUITARY GROWTH HORMONE â POTENTIAL EFFECT OF AN AMYLOID ENHANCING FACTOR?

Lachmann, Helen J., Rowczenio, Dorota, Gilbertson, Janet A., Noor, Islam, Trojer, Hadija, Gillmore, Julian D., Wechalekar, Ashutosh D., Hawkins, Philip N.

Year:

2019

File:

PDF, 55 KB

2019

30

AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: A report of two cases

Helen J. Lachmann, Hugh J. B. Goodman, Peter A. Andrews, Hugh Gallagher, James Marsh, Stephan Breuer, Dorota M. Rowczenio, Alison Bybee, Philip N. Hawkins

Journal:

Arthritis & Rheumatism

Year:

2006

Language:

english

File:

PDF, 90 KB

english, 2006

31

Laryngeal presentation of systemic apolipoprotein A-I–derived amyloidosis

Aldert J. C. Hazenberg, Frederik G. Dikkers, Philip N. Hawkins, Johan Bijzet, Dorota Rowczenio, Janet Gilbertson, Marcel D. Posthumus, Martha K. Leijsma, Bouke P. C. Hazenberg

Journal:

The Laryngoscope

Year:

2009

Language:

english

File:

PDF, 395 KB

english, 2009

32

Familial amyloid polyneuropathy associated with the novel transthyretin variant Arg34Gly

Levy, Jaime, Hawkins, Philip N., Rowczenio, Dorota, Godfrey, Tim, Stawell, Richard, Zamir, Ehud

Journal:

Year:

2012

Language:

english

File:

PDF, 658 KB

english, 2012

33

Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue—a case series and genetic exploration: Table 1

Rowczenio, Dorota M., Iancu, Daniela S., Trojer, Hadija, Gilbertson, Janet A., Gillmore, Julian D., Wechalekar, Ashutosh D., Tekman, Mehmet, Stanescu, Horia C., Kleta, Robert, Lane, Thirusha, Hawkins,

Journal:

Year:

2016

Language:

english

File:

PDF, 65 KB

english, 2016

34

PW03-020 – A decade of ANTI-IL-1 therpay for CAPS in the UK

T Lane,NM Stewart,A Bybee,DM Rowczenio,K Wynne,H Trojer…

Journal:

Pediatric Rheumatology

Year:

2013

Language:

english

File:

PDF, 101 KB

english, 2013

35

PW02-030 - Clinical phenotype in individuals with Q703K

DM Rowczenio,H Trojer,G Wang,PN Hawkins,HJ Lachmann…

Journal:

Pediatric Rheumatology

Year:

2013

Language:

english

File:

PDF, 101 KB

english, 2013

36

The role of somatic NLRP3 mosaicism and new gene discovery in mutation negative cryopyrin-associated periodic syndrome patients

Gomes, Sonia, Arostegui, Joan, Omonyinmi, Ebun, Gonzalez-Roca, Eva, Standing, Ariane, Rowczenio, Dorota, Nathanpisal, Sira, Murphy, Claire, Elephteriou, Despina, Klein, Nigel, Hawkins, Philip, Lachman

Journal:

Pediatric Rheumatology

Year:

2014

Language:

english

File:

PDF, 268 KB

english, 2014

37

A case report of hereditary apolipoprotein A-I amyloidosis associated with a novel APOA1 mutation and variable phenotype

Tougaard, Birgitte G., Pedersen, Katja Venborg, Krag, Søren Rasmus, Gilbertson, Janet A., Rowczenio, Dorota, Gillmore, Julian D., Birn, Henrik

Journal:

European Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 751 KB

english, 2016

38

Diagnostic sensitivity of abdominal fat aspiration in cardiac amyloidosis

Quarta, Candida Cristina, Gonzalez-Lopez, Esther, Gilbertson, Janet A., Botcher, Nichola, Rowczenio, Dorota, Petrie, Aviva, Rezk, Tamer, Youngstein, Taryn, Mahmood, Shameem, Sachchithanantham, Sajitha

Journal:

European Heart Journal

Year:

2017

Language:

english

File:

PDF, 88 KB

english, 2017

39

Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism—UK Single Center Experience

Rowczenio, Dorota M., Gomes, Sónia Melo, Aróstegui, Juan I., Mensa-Vilaro, Anna, Omoyinmi, Ebun, Trojer, Hadija, Baginska, Anna, Baroja-Mazo, Alberto, Pelegrin, Pablo, Savic, Sinisa, Lane, Thirusha, W

Journal:

Frontiers in Immunology

Year:

2017

Language:

english

File:

PDF, 936 KB

english, 2017

40

Disease progression in cardiac transthyretin amyloidosis is indicated by serial calculation of National Amyloidosis Centre transthyretin amyloidosis stage

Law, Steven, Petrie, Aviva, Chacko, Liza, Cohen, Oliver C., Ravichandran, Sriram, Gilbertson, Janet A., Rowczenio, Dorota, Wechalekar, Ashutosh, MartinezâNaharro, Ana, Lachmann, Helen J., Whelan, Ca

Journal:

ESC Heart Failure

Year:

2020

File:

PDF, 1.11 MB

2020

41

P02-015 - A novel MVK mutation in a child with AA amyloid

A Kolsky,D Rowczenio,H Lachmann,Z Vernerova,F Votava…

Journal:

Pediatric Rheumatology

Year:

2013

Language:

english

File:

PDF, 98 KB

english, 2013

42

Renal Amyloidosis Associated With Five Novel Variants in the Fibrinogen A Alpha Chain Protein

Rowczenio, Dorota, Stensland, Maria, de Souza, Gustavo A., Strøm, Erik H., Gilbertson, Janet A., Taylor, Graham, Rendell, Nigel, Minogue, Shane, Efebera, Yvonne A., Lachmann, Helen J., Wechalekar, Ash

Journal:

Kidney International Reports

Year:

2016

Language:

english

File:

PDF, 1.56 MB

english, 2016

43

Calprotectin (S100A8/A9) in Familial Mediterranean Fever

Pepper, R, Hutchinson, M, Henderson, S, Rowczenio, D, Hawkins, P, Lachmann, H

Journal:

Pediatric Rheumatology

Year:

2015

Language:

english

File:

PDF, 226 KB

english, 2015

44

Hereditary amyloidosis caused by R554L fibrinogen Aα-chain mutation in a Spanish family and review of the literature

Haidinger, Michael, Werzowa, Johannes, Kain, Renate, Antlanger, Marlies, Hecking, Manfred, Pfaffenberger, Stefan, Mascherbauer, Julia, Gremmel, Thomas, Gilbertson, Janet A., Rowczenio, Dorota, Weichha

Journal:

Year:

2013

Language:

english

File:

PDF, 1.25 MB

english, 2013

45

Oculoleptomeningeal Amyloidosis associated with transthyretin Leu12Pro in an African patient

McColgan, P., Viegas, S., Gandhi, S., Bull, K., Tudor, R., Sheikh, F., Pinney, J., Fontana, M., Rowczenio, D., Gillmore, J. D., Gilbertson, J. A., Whelan, C. J., Shah, S., Jaunmuktane, Z., Holton, J.

Journal:

Journal of Neurology

Year:

2015

Language:

english

File:

PDF, 769 KB

english, 2015

46

SAT0553 Anti-Interleukin-1 Therapies and Pregnancy Outcome: an International Cohort

Youngstein, T., Lane, T., Rowczenio, D., Ozdogan, H., Ugurlu, S., Hoffmann, P., Riminton, S., Headley, A.P., Ryan, J., Harty, L., Roesler, J., Blank, N., Michler, C., Hawkins, P.N., Lachmann, H.J.

Journal:

Annals of the Rheumatic Diseases

Year:

2015

Language:

english

File:

PDF, 111 KB

english, 2015

47

The complementary role of histology and proteomics for diagnosis and typing of systemic amyloidosis

Rezk, Tamer, Gilbertson, Janet A., Mangione, P. Patrizia, Rowczenio, Dorota, Rendell, Nigel, Canetti, Diana, Lachmann, Helen J., Wechalekar, Ashutosh D., Bass, Paul, Hawkins, Philip N., Bellotti, Vitt

Journal:

The Journal of Pathology Clinical Research

Year:

2019

File:

PDF, 1.51 MB

2019

48

[BMJ Publishing Group Ltd and European League Against Rheumatism Annual European Congress of Rheumatology, EULAR 2019, Madrid, 12â15 June 2019 - ()] Other orphan diseases - FRI0618âANALYSIS OF NEW REFERRALS TO A SPECIALIST UK ADULT AUTOINFLAMMATORY DISEASE SERVICE

Ugurlu, Serdal, Hawkins, Philip N., Papadopoulou, Charalampia, Rezk, Tamer, Rowczenio, Dorota, Lachmann, Helen J.

Year:

2019

File:

PDF, 150 KB

2019

49

PW01-021 – The phenotype of FMF due to deletion M694

HJ Lachmann,DM Rowczenio,JA Gilbertson,JD Gillmore…

Journal:

Pediatric Rheumatology

Year:

2013

Language:

english

File:

PDF, 83 KB

english, 2013

50

WEIGHT LOSS, ENCEPHALOPATHY, URINARY DIFFICULTIES AND NUMB FEET IN A NIGERIAN MAN

McColgan, P., Viegas, S., Gandhi, S., Sheikh, F., Pinney, J., Fontana, M., Rowczenio, D., Shah, S., Jaumuktane, Z., Holton, J., Schott, J., Werring, D., Hawkins, P., Reilly, M.

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2013

Language:

english

File:

PDF, 54 KB

english, 2013

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски