Lista de obras - Laurence Heidet - Dominio Público Uruguay

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

artículo científico publicado en 2010

A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation.

artículo científico publicado en 2013

Acute renal insufficiency in Kawasaki disease

artículo científico publicado en 1993

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

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

Alport syndrome: Hereditary nephropathy associated with mutations in genes coding for type IV collagen chains

artículo científico publicado en 2016

Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation

Benign familial hematuria associated with a novel COL4A4 mutation

scientific article published on 01 November 2001

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

scientific article published on 20 March 2020

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

artículo científico publicado en 2002

Ciliopathies A reference for clinicians

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

artículo científico publicado el 30 de marzo de 2012

Clinical utility gene card for: renal coloboma (Papillorenal) syndrome ⬇️

artículo científico publicado el 16 de febrero de 2011

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

artículo científico publicado en 2015

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis

scientific journal article

Deletion of the mitochondrial DNA in a case of de Toni-Debr�-Fanconi syndrome and Pearson syndrome

artículo científico publicado en 1994

Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours

scientific article published on 01 January 1995

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

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

artículo científico publicado en 2004

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

artículo científico publicado en 2016

Evidence of digenic inheritance in Alport syndrome

artículo científico publicado en 2015

Fanconi syndrome and severe polyuria: an uncommon clinicobiological presentation of a Gitelman syndrome.

artículo científico publicado en 2014

Fetal serum α‐1 microglobulin for renal function assessment: comparison with β2‐microglobulin and cystatin C ⬇️

artículo científico publicado el 14 de mayo de 2013

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

artículo científico publicado en 2017

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

artículo científico publicado en 2000

Hepatocyte nuclear factor 1β controls nephron tubular development

artículo científico publicado en 2013

Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes

artículo científico publicado en 2010

Human mutations affect the epigenetic/bookmarking function of HNF1B

artículo científico publicado en 2016

Hyperechogenic kidneys and polyhydramnios associated with HNF1B gene mutation.

artículo científico publicado en 2016

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

In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys

artículo científico publicado en 2003

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

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

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis

artículo científico publicado en 1996

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

artículo científico publicado en 2011

Murine membranous nephropathy: immunization with α3(IV) collagen fragment induces subepithelial immune complexes and FcγR-independent nephrotic syndrome.

artículo científico publicado en 2012

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

Mutations in Alport syndrome associated with diffuse esophageal leiomyomatosis.

artículo científico publicado en 1996

Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria

article

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

Outcome following prenatal diagnosis of severe bilateral renal hypoplasia ⬇️

artículo científico publicado el 1 de septiembre de 2013

Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations

artículo científico publicado en 2011

Prognosis and outcome of pregnancies exposed to renin-angiotensin system blockers.

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Repression of CMIP transcription by WT1 is relevant to podocyte health

artículo científico publicado en 2016

Sequence and structure of the human OXA1L gene and its upstream elements ⬇️

artículo científico publicado el 10 de julio de 1997

Sequential fetal serum β2-microglobulin to predict postnatal renal function in bilateral or low urinary tract obstruction.

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Smooth muscle tumors associated with X-linked Alport syndrome: carrier detection in females

artículo científico publicado en 1995

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

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

artículo científico publicado en 2008

Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome

artículo científico publicado en 2001

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

artículo científico publicado en 2014

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

artículo científico publicado en 2002

The alloantigenic sites of alpha3alpha4alpha5(IV) collagen: pathogenic X-linked alport alloantibodies target two accessible conformational epitopes in the alpha5NC1 domain

artículo científico publicado en 2007

The renal lesions of Alport syndrome

artículo científico publicado en 2009

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

artículo científico publicado en 2012

[Diffuse leiomyomatosis with genital involvement and Alport syndrome. Report of two cases]

artículo científico publicado en 1998

Lista de obras de Laurence Heidet

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

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

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

A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation.

Acute renal insufficiency in Kawasaki disease

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

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

Alport syndrome or progressive hereditary nephritis with hearing loss

Alport syndrome: Hereditary nephropathy associated with mutations in genes coding for type IV collagen chains

Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation

Benign familial hematuria associated with a novel COL4A4 mutation

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

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

Ciliopathies A reference for clinicians

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

Clinical utility gene card for: renal coloboma (Papillorenal) syndrome ⬇️

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

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis

Deletion of the mitochondrial DNA in a case of de Toni-Debr�-Fanconi syndrome and Pearson syndrome

Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours

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

Diffuse esophageal leiomyomatosis with perirectal involvement mimicking Hirschsprung disease

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

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

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

Evidence of digenic inheritance in Alport syndrome

Fanconi syndrome and severe polyuria: an uncommon clinicobiological presentation of a Gitelman syndrome.

Fetal serum α‐1 microglobulin for renal function assessment: comparison with β2‐microglobulin and cystatin C ⬇️

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

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

Hepatocyte nuclear factor 1β controls nephron tubular development

Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes

Human mutations affect the epigenetic/bookmarking function of HNF1B

Hyperechogenic kidneys and polyhydramnios associated with HNF1B gene mutation.

Improving mutation screening in familial hematuric nephropathies through next generation sequencing

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

In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys

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

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

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis

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

Murine membranous nephropathy: immunization with α3(IV) collagen fragment induces subepithelial immune complexes and FcγR-independent nephrotic syndrome.

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

Mutations in Alport syndrome associated with diffuse esophageal leiomyomatosis.

Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria

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

Outcome following prenatal diagnosis of severe bilateral renal hypoplasia ⬇️

Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations

Prognosis and outcome of pregnancies exposed to renin-angiotensin system blockers.

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

Repression of CMIP transcription by WT1 is relevant to podocyte health

Sequence and structure of the human OXA1L gene and its upstream elements ⬇️

Sequential fetal serum β2-microglobulin to predict postnatal renal function in bilateral or low urinary tract obstruction.

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

Smooth muscle tumors associated with X-linked Alport syndrome: carrier detection in females

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

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

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

Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome

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

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

The alloantigenic sites of alpha3alpha4alpha5(IV) collagen: pathogenic X-linked alport alloantibodies target two accessible conformational epitopes in the alpha5NC1 domain

The renal lesions of Alport syndrome

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

[Diffuse leiomyomatosis with genital involvement and Alport syndrome. Report of two cases]