List of works - Dorota Rowczenio

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

scientific article published on 27 May 2016

A new staging system for cardiac transthyretin amyloidosis

scientific article published on 18 October 2017

A novel nucleotide oligomerisation domain 2 mutation in a family with Blau syndrome: Phenotype and function.

scientific article published in January 2017

Adult-onset tumour necrosis factor receptor-associated periodic syndrome presenting as transfusion-dependent refractory haemophagocytosis

scientific article published on 7 December 2017

Amyloidogenicity and clinical phenotype associated with five novel mutations in apolipoprotein A-I.

scientific article published on 05 August 2011

Analysis of the TTR gene in the investigation of amyloidosis: A 25 year single UK centre experience

article

Autosomal dominant periodic fever with AA amyloidosis: tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Turkish family.

scientific article

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

scientific article published on 11 October 2011

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

scientific article published on 24 October 2014

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.

scientific article published on 27 July 2017

Diagnosis, pathogenesis and outcome in leucocyte chemotactic factor 2 (ALECT2) amyloidosis

scientific article published in February 2018

Diagnosis, pathogenesis, treatment, and prognosis of hereditary fibrinogen A alpha-chain amyloidosis

scientific article published on 10 December 2008

Diagnostic sensitivity of abdominal fat aspiration in cardiac amyloidosis

scientific article published on 7 March 2017

Familial amyloid polyneuropathy associated with the novel transthyretin variant Arg34Gly ⬇️

scientific article published on September 13, 2012

Five novel TTR variants: associated phenotypes and structural consequences

scientific article published on 2 November 2015

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

scientific article published on 03 April 2013

Laryngeal presentation of systemic apolipoprotein A-I-derived amyloidosis

scientific article published in March 2009

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

scientific article

Native T1 mapping in transthyretin amyloidosis

scientific article published on 08 January 2014

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

scientific article published on 6 May 2015

New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).

scientific article published on 29 March 2018

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

scientific article

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two: Genoa, Italy. 28 September – 01 October 2016.

scientific article published on 30 May 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

scientific article published on 4 February 2017

Renal Amyloidosis Associated With 5 Novel Variants in the Fibrinogen A Alpha Chain Protein

scientific article published on 19 November 2016

Senile systemic amyloidosis: clinical features at presentation and outcome

scientific article

Successful treatment of familial Mediterranean fever with Anakinra and outcome after renal transplantation

scientific article published on 25 November 2008

The electrocardiographic features associated with cardiac amyloidosis of variant transthyretin isoleucine 122 type in Afro-Caribbean patients

scientific article published in July 2012

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

scientific article published on 17 September 2014

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

scientific article published on 2 November 2015

List of works by Dorota Rowczenio

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

A new staging system for cardiac transthyretin amyloidosis

A novel nucleotide oligomerisation domain 2 mutation in a family with Blau syndrome: Phenotype and function.

Adult-onset tumour necrosis factor receptor-associated periodic syndrome presenting as transfusion-dependent refractory haemophagocytosis

Amyloidogenicity and clinical phenotype associated with five novel mutations in apolipoprotein A-I.

Analysis of the TTR gene in the investigation of amyloidosis: A 25 year single UK centre experience

Autosomal dominant periodic fever with AA amyloidosis: tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Turkish family.

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

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

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.

Diagnosis, pathogenesis and outcome in leucocyte chemotactic factor 2 (ALECT2) amyloidosis

Diagnosis, pathogenesis, treatment, and prognosis of hereditary fibrinogen A alpha-chain amyloidosis

Diagnostic sensitivity of abdominal fat aspiration in cardiac amyloidosis

Familial amyloid polyneuropathy associated with the novel transthyretin variant Arg34Gly ⬇️

Five novel TTR variants: associated phenotypes and structural consequences

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

Laryngeal presentation of systemic apolipoprotein A-I-derived amyloidosis

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

Native T1 mapping in transthyretin amyloidosis

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

New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).

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

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two: Genoa, Italy. 28 September – 01 October 2016.

Prognostic utility of the Perugini grading of 99mTc-DPD scintigraphy in transthyretin (ATTR) amyloidosis and its relationship with skeletal muscle and soft tissue amyloid

Renal Amyloidosis Associated With 5 Novel Variants in the Fibrinogen A Alpha Chain Protein

Senile systemic amyloidosis: clinical features at presentation and outcome

Successful treatment of familial Mediterranean fever with Anakinra and outcome after renal transplantation

The electrocardiographic features associated with cardiac amyloidosis of variant transthyretin isoleucine 122 type in Afro-Caribbean patients

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

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