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Lista de obras de Roser Torra

A Review of the Imaging Techniques for Measuring Kidney and Cyst Volume in Establishing Autosomal Dominant Polycystic Kidney Disease Progression

article

A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees

artículo científico publicado en 2003

A coordinated transition model for patients with cystinosis: from pediatrics to adult care.

artículo científico publicado en 2016

A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases

article

A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.

artículo científico publicado en 1999

A review on autosomal dominant tubulointerstitial kidney disease

article

A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report

artículo científico publicado en 2019

Abdominal aortic aneurysms and autosomal dominant polycystic kidney disease

artículo científico publicado en 1996

Abdominal sonographic study of autosomal dominant polycystic kidney disease

artículo científico publicado en 2000

Acute Potassium Dichromate Poisoning

artículo científico publicado en 1991

Acute abdominal pain after vesical catheterization in a kidney and pancreas graft recipient

artículo científico publicado en 1994

Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome

artículo científico publicado en 2016

An update for atypical haemolytic uraemic syndrome: diagnosis and treatment. A consensus document

artículo científico publicado en 2013

An update for atypical haemolytic uraemic syndrome: diagnosis and treatment. A consensus document.

artículo científico publicado en 2015

Analysis of published PKD1 gene sequence variants

article

Aportación de la resonancia magnética al diagnóstico de la afectación cardiaca en la enfermedad de Fabry

scientific article published on 04 June 2010

Are sodium transporters in urinary exosomes reliable markers of tubular sodium reabsorption in hypertensive patients?

Assessing the effectiveness of rapamycin on angiomyolipoma in tuberous sclerosis: a two years trial

artículo científico publicado en 2012

Autosomal Dominant Polycystic Kidney Disease Types 1 and 2: Assessment of US Sensitivity for Diagnosis

scientific article published on 01 October 1999

Autosomal Dominant Polycystic Kidney Disease: Clinical Assessment of Rapid Progression

article

Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1

artículo científico publicado en 2018

Autosomal dominant policystic kidney disease, more than a renal disease

Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation Rapid Communication

scientific article published on 01 July 1997

Autosomal recessive Alport syndrome: linkage analysis and clinical features in two families

scientific article published on 01 March 1999

Autosomal recessive Alport’s syndrome and benign familial hematuria are collagen type IV diseases

artículo científico publicado en 2003

Autosomal recessive polycystic kidney disease presenting in adulthood. Molecular diagnosis of the family

artículo científico publicado en 1998

Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

artículo científico publicado en 2015

Building a network of ADPKD reference centres across Europe: the EuroCYST initiative.

artículo científico publicado en 2014

Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia.

artículo científico publicado en 2003

Chronic neutropenia and cryoglobulinemic nephropathy: effectiveness of treatment

artículo científico publicado en 1995

Ciclosporin-induced hypertension is associated with increased sodium transporter of the loop of Henle (NKCC2)

scientific article published on 25 June 2007

Clinical profile of women diagnosed with Fabry disease non receiving enzyme replacement therapy

artículo científico publicado en 2019

Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome

artículo científico publicado en 2011

Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.

artículo científico publicado en 2010

Collagen type IV (alpha3-alpha4) nephropathy: from isolated haematuria to renal failure

artículo científico publicado en 2004

Contribution of the TTC21B gene to glomerular and cystic kidney diseases.

artículo científico publicado en 2016

Coordinate expression of the autosomal dominant polycystic kidney disease proteins, polycystin-2 and polycystin-1, in normal and cystic tissue.

artículo científico publicado en 1999

Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease

artículo científico publicado en 2013

Cystatin C estimated glomerular filtration rate to assess renal function in early stages of autosomal dominant polycystic kidney disease

artículo científico publicado en 2017

Cystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosis

artículo científico publicado en 2015

DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome

artículo científico

Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing

artículo científico publicado en 2014

Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy

artículo científico publicado en 2011

Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative

artículo científico publicado en 2020

Epidemiological analysis of severe hospitalized 2009 pandemic influenza A (H1N1) cases in Catalonia, Spain.

artículo científico publicado en 2011

Epidemiology of two large measles virus outbreaks in Catalonia: what a difference the month of administration of the first dose of vaccine makes.

scientific article published on 09 January 2013

Erratum to «Recommendations for the multidisciplinary management of tuberous sclerosis complex» [MedClin(Barc)147(5) (2016) 211-216].

artículo científico publicado en 2017

Everolimus safety and efficacy for renal angiomyolipomas associated with tuberous sclerosis complex: a Spanish expanded access trial.

artículo científico publicado en 2016

Expert consensus guidelines for the genetic diagnosis of Alport syndrome

Fabry Nephropathy: An Evidence-Based Narrative Review.

artículo científico publicado en 2018

Fabry disease in untreated women with enzyme replacement therapy: Symptomatology and clinical profile

Fabry disease: An underrecognized cause of proteinuria

artículo científico publicado en 2007

Fabry disease: the many faces of a single disorder

artículo científico publicado en 2012

Facilitated diagnosis of the contiguous gene syndrome: Tuberous sclerosis and polycystic kidneys by means of haplotype studies

article

Factors associated to duration of hepatitis a outbreaks: implications for control

artículo científico publicado en 2012

Familial benign hematuria

scientific article published on 01 January 2003

FollowME Fabry Pathfinders Registry: Renal effectiveness in a cohort of patients on migalastat treatment for at least three years

artículo científico publicado en 2024

Foreword

Generation of integration-free induced pluripotent stem cell lines derived from two patients with X-linked Alport syndrome (XLAS).

artículo científico publicado en 2017

Genetic Testing for X-Linked Alport Syndrome by Direct Sequencing of COL4A5 cDNA From Hair Root RNA Samples

scientific article published on 01 August 2007

Genetic variation of DKK3 may modify renal disease severity in ADPKD.

artículo científico publicado en 2010

Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease

artículo científico publicado en 2003

HLA-DQA1 and PLA2R1 polymorphisms and risk of idiopathic membranous nephropathy.

artículo científico publicado en 2013

Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease

scientific article published on 01 January 2005

Home enzymatic therapy administration program for lysosomal diseases in Spain: first national experience

article

How genomics reclassifies diseases: the case of Alport syndrome

artículo científico publicado en 2020

Hypertension in Polycystic Kidney Disease Types 1 and 2 and Its Effect on the Age of Onset of End-Stage Renal Disease

artículo científico publicado en 1997

Hypertension in autosomal-dominant polycystic kidney disease (ADPKD).

artículo científico

Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement

Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations

artículo científico publicado en 2012

Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

artículo científico publicado en 2010

Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients

scientific article published on 01 October 2000

Influence of the ACE gene polymorphism in the progression of renal failure in autosomal dominant polycystic kidney disease

article

Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated

artículo científico publicado en 2015

Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS).

artículo científico publicado en 2017

Interfamilial and intrafamilial variability of clinical expression in ADPKD.

artículo científico publicado en 1995

International Multi-Specialty Delphi Survey: Identification of Diagnostic Criteria for Hepatic and Renal Cyst Infection.

artículo científico publicado en 2016

International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people

artículo científico publicado en 2019

Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2.

artículo científico publicado en 1996

Location of mutations within the PKD2 gene influences clinical outcome

artículo científico publicado en 2000

Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patients

artículo científico publicado en 2000

MO070CLINICAL AND GENETIC FEATURES IN A LARGE SPANISH COHORT WITH HETEROZYGOUS MUTATIONS IN COL4A3-COL4A4 GENES

article

MYH9 Associated nephropathy

artículo científico publicado en 2018

MYH9-related disease: it does exist, may be more frequent than you think and requires specific therapy

scientific article published on 01 August 2019

Male-to-male transmission of X-linked Alport syndrome in a boy with a 47,XXY karyotype

article

Mutational analysis within the 3′ region of the PKD1 gene

article

Mutations and Intragenic Polymorphisms in the Diagnosis of Autosomal Dominant Polycystic Kidney Disease Type 1

artículo científico publicado en 1997

Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria

article

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum

artículo científico publicado en 2013

Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis

article

New therapeutic options for Alport syndrome

artículo científico publicado en 2019

Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature

article

Pandemic A/H1N1 influenza: transmission of the first cases in Spain.

artículo científico publicado en 2011

Patients with multiple myeloma requiring long-term dialysis: presenting features, response to therapy, and outcome in a series of 20 cases

artículo científico publicado en 1995

Podocyturia: why it may have added value in rare diseases

artículo científico publicado en 2018

Polycystic kidney disease patients on renal replacement therapy: data from the Catalan Renal Registry.

artículo científico publicado en 1995

PrEFiNe Plan: Strategic plan for Fabry diseases in Nephrology.

artículo científico publicado en 2016

Preservation of renal function in a patient with Fabry nephropathy on enzyme replacement therapy

artículo científico publicado en 2008

Prevalence of cysts in seminal tract and abnormal semen parameters in patients with autosomal dominant polycystic kidney disease

artículo científico publicado en 2008

Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics

artículo científico publicado en 2017

Recent advances in the clinical management of autosomal dominant polycystic kidney disease

artículo científico publicado en 2019

Recommendations for imaging-based diagnosis and management of renal angiomyolipoma associated with tuberous sclerosis complex

artículo científico publicado en 2017

Recommendations for the management of renal involvement in the tuberous sclerosis complex

scientific article published on 10 November 2019

Recommendations for the multidisciplinary management of tuberous sclerosis complex

Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease: a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best Practice

artículo científico publicado en 2016

Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families

Relationship between renal size and blood pressure profile in patients with autosomal dominant polycystic kidney disease without renal failure

artículo científico publicado en 2010

Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy

article

Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy.

artículo científico publicado en 2016

Renal manifestations in Fabry disease and therapeutic options

artículo científico publicado en 2008

Renal replacement therapy in ADPKD patients: a 25-year survey based on the Catalan registry.

artículo científico publicado en 2013

Renal volume and cardiovascular risk assessment in normotensive autosomal dominant polycystic kidney disease patients

artículo científico publicado en 2016

Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.

artículo científico publicado en 1996

Response to ‘Is standard GLA gene mutation analysis definitive for the diagnosis of Fabry disease?’

article

Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease

artículo científico publicado en 2008

Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease

article

Severe acute multi-organ complications in the 'primary' antiphospholipid syndrome: it is appropriate to use the 'catastrophic' adjective

artículo científico publicado en 1994

Sonographic pattern of recessive polycystic kidney disease in young adults. Differences from the dominant form

scientific article published on 01 September 2000

Spanish guidelines for the management of autosomal dominant polycystic kidney disease

artículo científico publicado en 2014

Sporadic orofaciodigital syndrome type I presenting as end-stage renal disease

scientific article published on 01 May 1997

Stem cell therapy for Alport syndrome: the hope beyond the hype

artículo científico publicado en 2008

Sternoclavicular tuberculosis

artículo científico publicado el 1 de octubre de 1992

Study of candidate genes affecting the progression of renal disease in autosomal dominant polycystic kidney disease type 1

article

TO037DEFINING RAPID DISEASE PROGRESSION IN A SPANISH ADPKD COHORT

article

TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis

artículo científico publicado en 2009

Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity

artículo científico publicado en 2014

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

artículo científico publicado en 2016

UGA hopping: a sport for nephrologists too?

artículo científico publicado en 2010

Ultrasonographic study of pancreatic cysts in autosomal dominant polycystic kidney disease.

artículo científico publicado en 1997

Unified criteria for ultrasonographic diagnosis of ADPKD.

artículo científico publicado en 2008

Very low-molecular-mass fragments of albumin in the plasma of patients with focal segmental glomerulosclerosis

artículo científico publicado en 2009

WT1 mutations may be a cause of severe renal failure due to nephroblastomatosis in Wilms' tumor patients

artículo científico publicado en 2011

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations

artículo científico publicado en 2016

[Clinical, genetic and molecular studies on autosomal dominant polycystic kidney disease]

artículo científico publicado en 1998

[Collagen IV (alpha3-alpha4) nephropathy]

artículo científico publicado en 2005

[Heterozygosity loss and somatic mutations in type I and II dominant autosomal renal polycystic kidney disease: evidence of a recessive mechanism at a cell level in cystogenesis]

artículo científico publicado en 2000

[Molecular diagnosis of hereditary renal diseases]

scientific article published on 01 January 2003

[Mutational analysis of the PKD1 and PKD2 (type 1 and 2 dominant autosomal polycystic kidney) genes]

article

[New therapeutic prospects in autosomal dominant polycystic kidney disease]

artículo científico publicado en 2008

[Recommendations for the multidisciplinary management of tuberous sclerosis complex].

artículo científico publicado en 2016

[Renal hereditary diseases. The role of primary care]

artículo científico publicado en 2005

[The Alport syndrome]

scientific article published on 01 January 2003

[The Fabry's disease]

artículo científico publicado en 2003

[Treatment of autosomal dominant polycystic kidney disease].

artículo científico publicado en 2013

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