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Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group

Kidney international, 2018-05, Vol.93 (5), p.1045-1051

2018

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Human mutations affect the epigenetic/bookmarking function of HNF1B

Nucleic acids research, 2016-09, Vol.44 (17), p.8097

2016

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Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity

Orphanet journal of rare diseases, 2024-02, Vol.19 (1), p.55-55

2024

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Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative

Pediatric nephrology (Berlin, West), 2013-01, Vol.28 (1), p.5-11

2013

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Improving mutation screening in familial hematuric nephropathies through next generation sequencing

Journal of the American Society of Nephrology, 2014-12, Vol.25 (12), p.2740-2751

2014

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Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract

Journal of the American Society of Nephrology, 2017-10, Vol.28 (10), p.2901-2914

2017

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Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases

Clinical journal of the American Society of Nephrology, 2010-06, Vol.5 (6), p.1079-1090

2010

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Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease

Pediatric nephrology (Berlin, West), 2020-06, Vol.35 (6), p.1125-1128

2020

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Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease

Journal of the American Society of Nephrology, 2016-03, Vol.27 (3), p.722-729

2016

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Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes

Clinical journal of the American Society of Nephrology, 2013-07, Vol.8 (7), p.1179-1187

2013

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Long-term kidney and liver outcome in 50 children with autosomal recessive polycystic kidney disease

Pediatric nephrology (Berlin, West), 2021-05, Vol.36 (5), p.1165-1173

2021

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Phenotype and Outcome in Hereditary Tubulointerstitial Nephritis Secondary to UMOD Mutations

Clinical journal of the American Society of Nephrology, 2011-10, Vol.6 (10), p.2429-2438

2011

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The “salt and pepper” pattern on renal ultrasound in a group of children with molecular-proven diagnosis of ciliopathy-related renal diseases

Pediatric nephrology (Berlin, West), 2020-06, Vol.35 (6), p.1033-1040

2020

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Early Glomerular Filtration Defect and Severe Renal Disease in Podocin-Deficient Mice

Molecular and Cellular Biology, 2004-01, Vol.24 (2), p.550-560

2004

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Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes

Annals of the New York Academy of Sciences, 2010-12, Vol.1214 (1), p.83-98

2010

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P168: MUC1 gene coding-VNTR alignment-free genotyping approach augmented ADTKD diagnosis in a cohort of 3735 patients with hereditary kidney diseases

Genetics in Medicine Open, 2024, Vol.2, p.101065

2024

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P135: X-linked Alport syndrome: From transcriptomic diagnosis to preclinical assessment of splice-switching oligonucleotide therapy using patient-derived cells and kidney organoids

Genetics in Medicine Open, 2024, Vol.2, p.101032

2024

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VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease

iScience, 2023-07, Vol.26 (7), p.107171-107171, Article 107171

2023

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Extracorporeal Shockwave Lithotripsy for Cystine Stones in Children: An Observational, Retrospective, Single-Center Analysis

Frontiers in pediatrics, 2021-11, Vol.9, p.763317-763317

2021

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Influenza vaccination among children with idiopathic nephrotic syndrome: an investigation of practices

BMC nephrology, 2019-02, Vol.20 (1), p.65-65, Article 65

2019

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Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes

Journal of the American Society of Nephrology, 2002, Vol.13 (1), p.65-74

2002

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COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome

Kidney international, 2002-06, Vol.61 (6), p.1947-1956

2002

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Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group

Human mutations affect the epigenetic/bookmarking function of HNF1B

Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity

Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative

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

Improving mutation screening in familial hematuric nephropathies through next generation sequencing

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice

Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases

Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease

Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease

The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results

Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes

Long-term kidney and liver outcome in 50 children with autosomal recessive polycystic kidney disease

Phenotype and Outcome in Hereditary Tubulointerstitial Nephritis Secondary to UMOD Mutations

The “salt and pepper” pattern on renal ultrasound in a group of children with molecular-proven diagnosis of ciliopathy-related renal diseases

Early Glomerular Filtration Defect and Severe Renal Disease in Podocin-Deficient Mice

Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes

P168: MUC1 gene coding-VNTR alignment-free genotyping approach augmented ADTKD diagnosis in a cohort of 3735 patients with hereditary kidney diseases

P135: X-linked Alport syndrome: From transcriptomic diagnosis to preclinical assessment of splice-switching oligonucleotide therapy using patient-derived cells and kidney organoids

VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease

Extracorporeal Shockwave Lithotripsy for Cystine Stones in Children: An Observational, Retrospective, Single-Center Analysis

Influenza vaccination among children with idiopathic nephrotic syndrome: an investigation of practices

Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes

COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome

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