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Lista de obras de Corinne Antignac

A 11 Mb YAC-Based Contig Spanning the Familial Juvenile Nephronophthisis Region (NPH1) Located on Chromosome 2q

article

A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin

artículo científico publicado en 2003

A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p

article

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

artículo científico publicado en 2018

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

artículo científico publicado en 2014

A human-mouse chimera of the alpha3alpha4alpha5(IV) collagen protomer rescues the renal phenotype in Col4a3-/- Alport mice.

artículo científico publicado en 2003

A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia

artículo científico publicado en 2004

A missense mutation in podocin leads to early and severe renal disease in mice

artículo científico publicado en 2008

A molecular approach to inherited kidney disorders

scientific article published on 01 December 1993

A mouse model suggests two mechanisms for thyroid alterations in infantile cystinosis: decreased thyroglobulin synthesis due to endoplasmic reticulum stress/unfolded protein response and impaired lysosomal processing.

artículo científico publicado en 2015

A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes.

artículo científico publicado en 2010

A novel Wilms' tumor 1 gene mutation in a child with severe renal dysfunction and persistent renal blastema

artículo científico publicado en 2008

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

artículo científico publicado en 1998

A novel renal carbonic anhydrase type III plays a role in proximal tubule dysfunction

artículo científico publicado en 2008

A specific glomerular lesion of the graft: allograft glomerulopathy

artículo científico publicado en 1993

A study of new NEK8 mutations in patients with severe renal cystic hypodysplasia and ciliopathy-associated defects.

artículo científico publicado en 2015

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

artículo científico publicado en 2013

ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS

artículo científico publicado en 2015

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

artículo científico publicado en 2013

Actualités du syndrome néphrotique

artículo científico publicado en 2001

Adequate clinical control of congenital nephrotic syndrome by enalapril

artículo científico publicado en 1998

Agonists of prostaglandin E<sub>2</sub> receptors as potential first in class treatment for nephronophthisis and related ciliopathies

artículo científico publicado en 2022

Alport syndrome and diffuse leiomyomatosis: Deletions in the 5′ end of the COL4A5 collagen gene

article

Alport syndrome associated with diffuse leiomyomatosis: COL4A5‐COL4A6 deletion associated with a mild form of Alport nephropathy

artículo científico publicado en 2002

Alport syndrome or progressive hereditary nephritis with hearing loss

artículo científico publicado en 2007

Alteration of nephrocystins and IFT-A proteins causes similar ciliary phenotypes leading to Nephronophthisis.

artículo científico publicado en 2012

Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome.

artículo científico publicado en 2009

Antioncogenes: models for tumors in children

artículo científico publicado en 1991

Apport de l'immunohistochimie dans le diagnostic du syndrome d'Alport

artículo científico publicado en 2005

Apport de la biologie moléculaire dans le diagnostic des néphropathies héréditaires monogéniques

artículo científico publicado en 2001

Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis

scientific journal article

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report

artículo científico publicado en 2015

Autosomal recessive Alport syndrome: Immunohistochemical study of type IV collagen chain distribution

artículo científico publicado en 1995

Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome

artículo científico publicado en 2005

Benign familial hematuria associated with a novel COL4A4 mutation

scientific article published on 01 November 2001

Bilateral macular detachment caused by bilateral optic nerve malformation in a papillorenal syndrome due to a new PAX2 mutation.

artículo científico publicado en 2008

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps

artículo científico publicado en 2007

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

artículo científico publicado en 2010

Case Report. A novel NPHS2 gene mutation in Turkish children with familial steroid-resistant nephrotic syndrome

article

Cell therapy for cystinosis

artículo científico publicado en 2010

Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in Brittany.

artículo científico publicado en 2001

Characterization of the NPH2 gene, coding for the glomerular protein podocin, implicated in a familial form of cortico-resistant nephrotic syndrome transmitted as an autosomal recessive

artículo científico publicado en 2002

Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes

scientific journal article

Chronic renal failure and cranioectodermal dysplasia: a further step

artículo científico publicado en 1997

Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant

artículo científico publicado en 2009

Clinical utility gene card for: cystinosis

scientific article published on 18 September 2013

Clinicopathological quiz

scientific article published on 01 October 1987

Constitutional and somatic deletions of two different regions of maternal chromosome 11 in Wilms tumor.

artículo científico publicado en 1990

Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros

artículo científico publicado en 2011

Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults

scientific article published on 07 September 2011

Cystine accumulation in the CNS results in severe age-related memory deficits

scientific journal article

Cystinosin is a Component of the Vacuolar H+-ATPase-Ragulator-Rag Complex Controlling Mammalian Target of Rapamycin Complex 1 Signaling

artículo científico publicado en 2015

Cystinosin is a melanosomal protein that regulates melanin synthesis

artículo científico publicado en 2012

Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter

artículo científico publicado en 2001

Cystinosis: from gene to disease

artículo científico publicado en 2002

De novo membranous glomerulonephritis in renal allografts in children.

artículo científico publicado en 1988

Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis

artículo científico publicado en 2013

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

scientific article published on 03 September 2019

Delayed renal failure with extensive mesangiolysis following bone marrow transplantation.

artículo científico publicado en 1989

Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the young

artículo científico publicado en 1993

Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.

artículo científico publicado en 1994

Diagnostic prénatal de la polykystose rénale récessive autosomique

artículo científico publicado en 2000

Diffuse Leiomyomatosis of the Esophagus: Disorder of Cell-Matrix Interaction?

scientific article published on 01 November 1998

Diffuse esophageal leiomyomatosis with perirectal involvement mimicking Hirschsprung disease

artículo científico publicado en 2001

Diffuse leiomyomatosis associated with X-linked Alport syndrome: extracellular matrix study using immunohistochemistry and in situ hybridization

artículo científico publicado en 1997

Diffuse mesangial sclerosis: a congenital glomerulopathy with nephrotic syndrome.

artículo científico publicado en 1993

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure

artículo científico publicado en 2009

Données récentes sur les néphropathies héréditaires

artículo científico publicado en 1996

Early glomerular filtration defect and severe renal disease in podocin-deficient mice

artículo científico publicado en 2004

Endoplasmic Reticulum Stress in UMOD-Related Kidney Disease: A Human Pathologic Study

artículo científico publicado en 2011

Endoplasmic reticulum stress drives proteinuria-induced kidney lesions via Lipocalin 2

artículo científico publicado en 2016

Evidence for further genetic heterogeneity in nephronophthisis

article

Evidence of Oligogenic Inheritance in Nephronophthisis

article

Evidence of digenic inheritance in Alport syndrome

artículo científico publicado en 2015

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

artículo científico publicado en 2012

FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.

artículo científico publicado en 2012

Functional Characterization of a Calcium-Sensing Receptor Mutation in Severe Autosomal Dominant Hypocalcemia with a Bartter-Like Syndrome

artículo científico publicado en 2002

Functional analysis of BMP4 mutations identified in pediatric CAKUT patients

artículo científico publicado en 2009

Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype.

artículo científico publicado en 1998

Functional study of two V2 vasopressin mutant receptors related to NDI. P322S and P322H

scientific article published on 01 January 1998

Gene transfer may be preventive but not curative for a lysosomal transport disorder.

artículo científico publicado en 2008

Genetic models: clues for understanding the pathogenesis of idiopathic nephrotic syndrome

artículo científico publicado en 2002

Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology

scientific article published on October 2009

Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier

artículo científico publicado en 2009

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome

artículo científico publicado en 2010

Glomerular Lesions in the Transplanted Kidney in Children

article

Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys

artículo científico publicado en 2000

Glutathione precursors replenish decreased glutathione pool in cystinotic cell lines

artículo científico publicado en 2004

Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes

artículo científico publicado en 2010

Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations

artículo científico publicado en 2010

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations

artículo científico publicado en 2007

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

artículo científico publicado en 2009

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

artículo científico publicado en 2011

Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis

artículo científico publicado en 2002

Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene

artículo científico publicado en 2002

Identification of human mutations in TRAF3IP1 in patients with nephronophthisis and retinal degeneration.

artículo científico publicado en 2015

Imaging medullary cystic kidney disease with magnetic resonance

artículo científico publicado en 2003

Immunolocalization of cystinosin, the protein defective in cystinosis

artículo científico publicado en 2002

Impact of Cystinosin Glycosylation on Protein Stability by Differential Dynamic Stable Isotope Labeling by Amino Acids in Cell Culture (SILAC).

artículo científico publicado en 2017

Improving mutation screening in familial hematuric nephropathies through next generation sequencing

artículo científico publicado en 2014

In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation

artículo científico publicado en 2004

Increased lysosomal proteolysis counteracts protein accumulation in the proximal tubule during focal segmental glomerulosclerosis

artículo científico publicado en 2013

Initial steroid sensitivity in children with steroid-resistant nephrotic syndrome predicts post-transplant recurrence

artículo científico publicado en 2014

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans

artículo científico publicado en 2014

Interaction of endogenous nephrin and CD2-associated protein in mouse epithelial M-1 cell line

artículo científico publicado en 2002

Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis

scientific journal article

Isolation of kidney complementary DNAs down-expressed in Wilms' tumor by a subtractive hybridization approach.

artículo científico publicado en 1993

Karyomegalic Interstitial Nephritis: A Case Report and Review of the Literature

artículo científico publicado en 2016

Kidney functional reserve. Studies in humans

artículo científico publicado en 1990

LMX1B mutations cause hereditary FSGS without extrarenal involvement

scientific article published on 16 May 2013

Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping

artículo científico publicado en 2008

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome

artículo científico publicado en 2014

Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia

artículo científico publicado en 2017

Lysosomal Targeting of Cystinosin Requires AP-3.

artículo científico publicado en 2015

Macroscopic hematuria with normal renal biopsy-following the chain to the diagnosis: Answers.

artículo científico publicado en 2015

Macroscopic hematuria with normal renal biopsy-following the chain to the diagnosis: Questions.

artículo científico publicado en 2015

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

artículo científico publicado en 2012

Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene

article

Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis.

artículo científico publicado en 1995

Maternal environment interacts with modifier genes to influence progression of nephrotic syndrome

artículo científico publicado en 2008

Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency.

artículo científico publicado en 2011

Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis

artículo científico publicado en 2009

Matrix metalloproteinase 13 (MMP13) and tissue inhibitor of matrix metalloproteinase 1 (TIMP1), regulated by the MAPK pathway, are both necessary for Madin-Darby canine kidney tubulogenesis

artículo científico publicado en 2007

Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: No allelism with nephronophthisis type 1 ⬇️

artículo científico publicado el 1 de mayo de 1998

Molecular basis of steroid-resistant nephrotic syndrome.

artículo científico publicado en 2005

Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.

artículo científico publicado en 1999

Molecular genetics of Alport syndrome: the clinical consequences

article

Molecular genetics of basement membranes: the paradigm of Alport syndrome.

artículo científico publicado en 1995

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin

artículo científico publicado en 2004

More on Clinical Renal Genetics

article

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

artículo científico publicado en 2010

Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease

artículo científico publicado en 2016

Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations

article

Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome

article published in 2014

Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome

article

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

artículo científico publicado en 2013

Mutations des gènes du système rénine-angiotensine et dysgénésie tubulaire rénale

article

Mutations in Alport syndrome associated with diffuse esophageal leiomyomatosis.

artículo científico publicado en 1996

Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis

artículo científico publicado en 2011

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

artículo científico publicado en 2003

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

artículo científico publicado en 2017

Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS)

artículo científico publicado en 2007

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization

scientific journal article

Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans

artículo científico publicado en 2006

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

artículo científico publicado en 2003

Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

artículo científico publicado en 2005

Mutations in renin-angiotensin system genes and kidney developmental anomalies

artículo científico publicado en 2009

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

artículo científico publicado en 2017

Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum

artículo científico publicado en 2010

Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus

artículo científico publicado en 1997

Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria

article

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability

artículo científico publicado en 2014

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis

article

NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

artículo científico publicado en 2004

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

artículo científico publicado en 2013

NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome

artículo científico publicado en 2012

Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome

artículo científico publicado en 2008

Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6

scientific journal article

Nephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammals

artículo científico publicado en 2010

Nephrocystins play a crucial role in renal epithelial morphogenesis via the regulation of Wnt/PCP components Dishevelled and Rho GTPases.

artículo científico publicado en 2012

Nephronophthisis

artículo científico publicado en 2005

Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults.

artículo científico publicado en 2006

Nephronophthisis-like nephritis associated with fibrous dysplasia of bone

artículo científico publicado en 2008

Nephropathic cystinosis: an international consensus document

artículo científico publicado en 2014

Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy.

artículo científico

New aspects of the pathogenesis of cystinosis.

artículo científico publicado en 2003

Notions récentes sur la génétique du syndrome néphrotique cortico-résistant

artículo científico publicado en 2009

Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region

scientific article published on 01 January 1997

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

artículo científico publicado en 2016

Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome

artículo científico publicado en 1998

Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children

artículo científico publicado en 2010

Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain ⬇️

artículo científico publicado el 1 de septiembre de 1998

Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT)

scientific article published on 01 December 2011

PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism

PAX2mutations in fetal renal hypodysplasia

Pathological case of the month. Alport syndrome and diffuse leiomyomatosis

artículo científico publicado en 1993

Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations

artículo científico publicado en 2011

Physical and genetic mapping of the dipeptidase gene DPEP1 to 16q24.3.

artículo científico publicado en 1993

Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations

artículo científico publicado en 2004

Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome

artículo científico publicado en 2009

Podocin localizes in the kidney to the slit diaphragm area

artículo científico publicado en 2002

Presymptomatic diagnosis of familial steroid-resistant riephrotic syndrome

artículo científico publicado en 1996

Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study

artículo científico publicado en 2006

Programme national de recherche sur les maladies du rein et des voies urinaires

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

scientific article published on 17 June 2020

QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions

artículo científico publicado en 2016

RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

artículo científico publicado en 2011

Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin

artículo científico publicado en 2014

Renal functional reserve in children with reduced renal mass: study by two dietary periods

scientific article published on 01 November 1990

Renal phenotype of the cystinosis mouse model is dependent upon genetic background

artículo científico publicado en 2009

Renin-angiotensin system in kidney development: renal tubular dysgenesis

artículo científico publicado en 2009

Respiratory chain deficiency presenting as congenital nephrotic syndrome

artículo científico publicado en 2005

SIX2 and BMP4 mutations associate with anomalous kidney development

artículo científico publicado en 2008

Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.

artículo científico publicado en 2013

Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis

artículo científico publicado en 2005

Somatic deletion of the 5' ends of both the COL4A5 and COL4A6 genes in a sporadic leiomyoma of the esophagus ⬇️

artículo científico publicado el 1 de marzo de 1998

Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases

artículo científico publicado en 2010

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

artículo científico publicado en 2011

Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome.

artículo científico publicado en 1995

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

artículo científico publicado en 2008

Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations

artículo científico publicado en 1999

Studying nonobstructive azoospermia in cystinosis: histologic examination of testes and epididymis and sperm analysis in a Ctns−/− mouse model

artículo científico publicado en 2012

TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia

artículo científico publicado en 2014

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

artículo científico publicado en 2017

The ERA-EDTA Working Group on inherited kidney disorders

artículo científico publicado en 2012

The European renal genome project: an integrated approach towards understanding the genetics of kidney development and disease.

artículo científico publicado en 2005

The Future of Polycystic Kidney Disease Research--As Seen By the 12 Kaplan Awardees

artículo científico publicado en 2015

The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes

artículo científico publicado en 2002

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

artículo científico publicado en 2007

The Ocular Anomalies in a Cystinosis Animal Model Mimic Disease Pathogenesis

article

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

artículo científico publicado en 2007

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

artículo científico publicado en 2002

The kidney as a reservoir for HIV-1 after renal transplantation

artículo científico publicado en 2013

The swan-neck lesion: proximal tubular adaptation to oxidative stress in nephropathic cystinosis

artículo científico publicado en 2015

Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients

article

Time course of pathogenic and adaptation mechanisms in cystinotic mouse kidneys

artículo científico publicado en 2014

Toward the identification of a gene for familial juvenile nephronophthisis (autosomal recessive medullary cystic kidney disease).

artículo científico publicado en 1995

Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation

artículo científico publicado en 2002

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

artículo científico publicado en 2012

Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum

artículo científico publicado en 2009

Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1

artículo científico publicado en 2014

WNT/beta-catenin pathway activation in Wilms tumors: a unifying mechanism with multiple entries?

artículo científico publicado en 2009

What is the risk that I will transmit nephrotic syndrome to my children, Doctor?

artículo científico publicado en 2010

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study

artículo científico publicado en 2003

[Cerebellar vermis hypoplasia with extracerebral involvement (retina, kidney, liver): difficult to classify syndromes].

artículo científico publicado en 2001

[Contribution of molecular biology to the diagnosis of monogenic hereditary nephropathies]

artículo científico publicado en 1997

[Genetics and nephrotic syndrome]

artículo científico publicado en 1998

[Heterozygotic mutation in NPHS2 gene as a cause of familial steroid resistant nephrotic syndrome in two siblings--case report]

scientific article published on 01 January 2006

[Nephronophtisis in Senegal: first 3 cases]

artículo científico publicado en 1997

[Renal tubular dysgenesis and mutations in the renin-angiotensin system genes]

scientific article published on 01 February 2014

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