Lista de obras -

Autosomal dominant polycystic kidney disease in absence of renal cyst formation illustrates genetic interaction between WT1 and PKD1

artículo científico publicado en 2020

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

artículo científico publicado en 2015

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

artículo científico publicado en 2013

Effects of SLC10A2 variant rs9514089 on gallstone risk and serum cholesterol levels- meta-analysis of three independent cohorts

artículo científico publicado en 2011

FAT1 mutations cause a glomerulotubular nephropathy

artículo científico publicado en 2016

Genetic and evolutionary analyses of the human bone morphogenetic protein receptor 2 (BMPR2) in the pathophysiology of obesity

artículo científico publicado en 2011

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

artículo científico publicado en 2015

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

artículo científico publicado en 2015

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes

artículo científico publicado en 2020

Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype

scientific journal article

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

artículo científico publicado en 2013

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability

artículo científico publicado en 2014

Phenotype of a patient with a de novo mutation in the hepatocyte nuclear factor 1beta/maturity-onset diabetes of the young type 5 gene

artículo científico publicado en 2008

Role of genetic variation in the human sodium-glucose cotransporter 2 gene (SGLT2) in glucose homeostasis

artículo científico publicado en 2011

Successful Simultaneous Pancreas Kidney Transplantation in Maturity-Onset Diabetes of the Young Type 5 ⬇️

artículo científico publicado el 27 de octubre de 2011

THOC5: a novel gene involved in HDL-cholesterol metabolism

artículo científico publicado en 2013

The diagnostic value of native kidney biopsy in low grade, subnephrotic, and nephrotic range proteinuria: A retrospective cohort study

artículo científico publicado en 2022

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

artículo científico publicado en 2015

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

artículo científico publicado en 2013

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

artículo científico publicado en 2013

Lista de obras de

Autosomal dominant polycystic kidney disease in absence of renal cyst formation illustrates genetic interaction between WT1 and PKD1

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

Effects of SLC10A2 variant rs9514089 on gallstone risk and serum cholesterol levels- meta-analysis of three independent cohorts

FAT1 mutations cause a glomerulotubular nephropathy

Genetic and evolutionary analyses of the human bone morphogenetic protein receptor 2 (BMPR2) in the pathophysiology of obesity

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes

Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability

Phenotype of a patient with a de novo mutation in the hepatocyte nuclear factor 1beta/maturity-onset diabetes of the young type 5 gene

Role of genetic variation in the human sodium-glucose cotransporter 2 gene (SGLT2) in glucose homeostasis

Successful Simultaneous Pancreas Kidney Transplantation in Maturity-Onset Diabetes of the Young Type 5 ⬇️

THOC5: a novel gene involved in HDL-cholesterol metabolism

The diagnostic value of native kidney biopsy in low grade, subnephrotic, and nephrotic range proteinuria: A retrospective cohort study

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia