List of works - Elisabet Ars

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

article

A review on autosomal dominant tubulointerstitial kidney disease

article

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

scientific article

Aquaporin-1 and aquaporin-2 urinary excretion in cirrhosis: Relationship with ascites and hepatorenal syndrome

scientific article published in December 2006

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

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

scientific article published on 18 May 2018

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

scientific article published on 01 November 2003

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

scientific article published on 25 June 2007

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory

scientific article

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

scientific article published on 17 March 2011

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

scientific article

Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA

scientific article published on March 2000

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

scientific article

Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia

scientific article

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

scientific article

Correction: gr/gr deletion predisposes to testicular germ cell tumour independently from altered spermatogenesis: results from the largest European study

scientific article published on 12 August 2020

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

scientific article published on 27 October 2013

DNA microarray expression profiling of bladder cancer allows identification of noninvasive diagnostic markers

scientific article published on 18 June 2009

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

scientific article published on 30 May 2013

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

scientific article

ESR1 promoter polymorphism is not associated with nonsyndromic cryptorchidism

Early Macrophage Infiltration and Sustained Inflammation in Kidneys From Deceased Donors Are Associated With Long-Term Renal Function

scientific article

Expert consensus guidelines for the genetic diagnosis of Alport syndrome

From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia

scientific article published on 14 June 2018

Further insights into the role of T222P variant of RXFP2 in non-syndromic cryptorchidism in two Mediterranean populations

scientific article published on 16 July 2010

Gene expression profiles in prostate cancer: identification of candidate non-invasive diagnostic markers

scientific article published on 25 October 2013

Gene expression signature in urine for diagnosing and assessing aggressiveness of bladder urothelial carcinoma.

scientific article published on 20 April 2010

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

scientific article published on 9 September 2017

Genetic Diagnosis of Rare Diseases: Past and Present

scientific article published on 31 March 2020

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 dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men

scientific article published on 03 August 2020

Genetic predisposition to early recurrence in clinically localized prostate cancer.

scientific article

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

scientific article

High resolution X chromosome-specific array-CGH detects new CNVs in infertile males

scientific article

How genomics reclassifies diseases: the case of Alport syndrome

scientific article published on 16 September 2020

Improved prediction of biochemical recurrence after radical prostatectomy by genetic polymorphisms

scientific article published on 17 June 2010

Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

scientific article

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

scientific article published on 17 June 2015

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

scientific article published on 14 September 2017

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

article

MYH9 Associated nephropathy

scientific article published on 22 November 2018

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

article

Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas

Molecular lymph node staging in bladder urothelial carcinoma: impact on survival

scientific article published on 7 May 2008

Monocyte implication in renal allograft dysfunction

scientific article published on 01 February 2014

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

scientific article published in January 2000

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

scientific article published on 06 February 2017

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

scientific article published on 09 December 2013

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

article

New mutation in 2 pediatric patients with Alport syndrome. Prognostic significance of genotype.

scientific article

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

article

Partially degraded RNA from bladder washing is a suitable sample for studying gene expression profiles in bladder cancer.

scientific article published on 15 June 2006

Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation

article

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

scientific article published on 01 June 2008

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

scientific article

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

scientific article published on 19 July 2017

Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility

article

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.

scientific article published on 29 August 2016

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

scientific article

Renal sodium transporters are increased in urinary exosomes of cyclosporine-treated kidney transplant patients

scientific article published on 12 June 2014

Reply: Y-chromosome microdeletions are not associated with SHOX haploinsufficiency

scientific article published on 14 March 2014

Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations

article

Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients.

scientific article published in December 1996

Spanish guidelines for the management of autosomal dominant polycystic kidney disease

scientific article published in September 2014

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

scientific article published on 20 May 2009

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

scientific article

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

scientific article published on 30 March 2020

The leucine-rich repeat-containing G protein-coupled receptor 8 gene T222P mutation does not cause cryptorchidism

scientific article published on 11 December 2007

Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome

scientific article published on 14 June 2018

Utility of a multiprobe fluorescence in situ hybridization assay in the detection of superficial urothelial bladder cancer

scientific article published in March 2007

Utility of fluorescence in situ hybridization as a non-invasive technique in the diagnosis of upper urinary tract urothelial carcinoma

scientific article published on 8 September 2006

Utility of urothelial mRNA markers in blood for staging and monitoring bladder cancer.

scientific article published on 4 November 2011

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

scientific article published on 01 September 2011

X chromosome-linked CNVs in male infertility: discovery of overall duplication load and recurrent, patient-specific gains with potential clinical relevance

scientific article

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

scientific article

Y-chromosome microdeletions are not associated with SHOX haploinsufficiency.

scientific article published on 5 September 2013

[Collagen IV (alpha3-alpha4) nephropathy]

scientific article published on 01 January 2005

[Molecular diagnosis of hereditary renal diseases]

scientific article published on 01 January 2003

[The Alport syndrome]

scientific article published on 01 January 2003

gr/gr deletion predisposes to testicular germ cell tumour independently from altered spermatogenesis: results from the largest European study

scientific article published on 03 May 2019

List of works by Elisabet Ars

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

A review on autosomal dominant tubulointerstitial kidney disease

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

Aquaporin-1 and aquaporin-2 urinary excretion in cirrhosis: Relationship with ascites and hepatorenal syndrome

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

Autosomal Dominant Polycystic Kidney Disease: Clinical Assessment of Rapid Progression

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

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

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

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory

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

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

Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA

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

Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia

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

Correction: gr/gr deletion predisposes to testicular germ cell tumour independently from altered spermatogenesis: results from the largest European study

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

DNA microarray expression profiling of bladder cancer allows identification of noninvasive diagnostic markers

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

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

ESR1 promoter polymorphism is not associated with nonsyndromic cryptorchidism

Early Macrophage Infiltration and Sustained Inflammation in Kidneys From Deceased Donors Are Associated With Long-Term Renal Function

Expert consensus guidelines for the genetic diagnosis of Alport syndrome

From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia

Further insights into the role of T222P variant of RXFP2 in non-syndromic cryptorchidism in two Mediterranean populations

Gene expression profiles in prostate cancer: identification of candidate non-invasive diagnostic markers

Gene expression signature in urine for diagnosing and assessing aggressiveness of bladder urothelial carcinoma.

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

Genetic Diagnosis of Rare Diseases: Past and Present

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

Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men

Genetic predisposition to early recurrence in clinically localized prostate cancer.

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

High resolution X chromosome-specific array-CGH detects new CNVs in infertile males

How genomics reclassifies diseases: the case of Alport syndrome

Improved prediction of biochemical recurrence after radical prostatectomy by genetic polymorphisms

Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

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

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

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

MYH9 Associated nephropathy

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

Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas

Molecular lymph node staging in bladder urothelial carcinoma: impact on survival

Monocyte implication in renal allograft dysfunction

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

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

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

New mutation in 2 pediatric patients with Alport syndrome. Prognostic significance of genotype.

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

Partially degraded RNA from bladder washing is a suitable sample for studying gene expression profiles in bladder cancer.

Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation

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

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

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

Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility

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

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

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

Renal sodium transporters are increased in urinary exosomes of cyclosporine-treated kidney transplant patients

Reply: Y-chromosome microdeletions are not associated with SHOX haploinsufficiency

Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations

Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients.

Spanish guidelines for the management of autosomal dominant polycystic kidney disease

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

TO037DEFINING RAPID DISEASE PROGRESSION IN A SPANISH ADPKD COHORT

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

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

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

The leucine-rich repeat-containing G protein-coupled receptor 8 gene T222P mutation does not cause cryptorchidism

Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome

Utility of a multiprobe fluorescence in situ hybridization assay in the detection of superficial urothelial bladder cancer

Utility of fluorescence in situ hybridization as a non-invasive technique in the diagnosis of upper urinary tract urothelial carcinoma

Utility of urothelial mRNA markers in blood for staging and monitoring bladder cancer.

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

X chromosome-linked CNVs in male infertility: discovery of overall duplication load and recurrent, patient-specific gains with potential clinical relevance

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