Lista de obras - Cécile Jeanpierre - Dominio Público Uruguay

11p15.5-specific libraries for identification of potential gene sequences involved in Beckwith-Wiedemann syndrome and tumorigenesis.

artículo científico publicado en 1992

A highly polymorphic probe on 11p15.5: L22.5.2 (D11S774).

artículo científico publicado en 1991

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

artículo científico publicado en 2015

Antioncogenes: models for tumors in children

artículo científico publicado en 1991

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

artículo científico publicado en 2019

Changes in WT1 splicing are associated with a specific gene expression profile in Wilms' tumour

artículo científico publicado en 2002

Characterization of a panel of somatic cell hybrids for subregional mapping along 11p and within band 11p13. Subdivision of the WAGR complex region.

artículo científico publicado en 1989

Characterization of regions of chromosomes 12 and 16 involved in nephroblastoma tumorigenesis

article

Chromosomal assignment of the uromodulin gene (UMOD) to 16p13.11

artículo científico publicado en 1993

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

artículo científico publicado en 2011

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

Correlations of allelic imbalance of chromosome 14 with adverse prognostic parameters in 148 renal cell carcinomas

artículo científico publicado en 1996

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis

scientific journal article

Deducing the stage of origin of Wilms' tumours from a developmental series of Wt1-mutant mice

artículo científico publicado en 2015

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

artículo científico publicado en 2012

Frequent overexpression of cyclin D2/cyclin-dependent kinase 4 in Wilms' tumor

artículo científico publicado en 2005

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

artículo científico publicado en 2017

Gonad development in Drash and Frasier syndromes depends on WT1 mutations

scientific article published on 01 March 2003

High cyclin E staining index in blastemal, stromal or epithelial cells is correlated with tumor aggressiveness in patients with nephroblastoma

artículo científico publicado en 2008

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

artículo científico publicado en 2015

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

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

artículo científico publicado en 1993

Management of Wilms tumors in Drash and Frasier syndromes.

artículo científico publicado en 2009

Molecular cytogenetic anomalies and phenotype alterations in a newly established cell line from Wilms tumor with diffuse anaplasia.

artículo científico publicado en 2008

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

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

artículo científico publicado en 2016

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

scientific article published on 01 December 2011

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

artículo científico publicado en 1993

Profiling of differential gene expression in Wilms tumor by cDNA expression array.

artículo científico publicado en 2001

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

Sex reversal and diaphragmatic hernia in phenotypicaly female sibs with normal XY chromosomes.

artículo científico publicado en 2000

Small glomeruli in WAGR (Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation) syndrome

artículo científico publicado en 2007

Software and database for the analysis of mutations in the human WT1 gene

artículo científico publicado en 1998

Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations

scientific article published on 01 December 1999

Surgical management and genotype/phenotype correlations in WT1 gene–related diseases (drash, frasier syndromes)

article

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

artículo científico publicado en 2017

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

artículo científico publicado en 2018

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

artículo científico publicado en 2009

WT1 splicing alterations in Wilms' tumors

artículo científico publicado en 2000

Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).

artículo científico publicado en 2015

Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas

artículo científico publicado en 2012

[FGF9 and FGF20 maintain the stemness of nephron progenitors during kidney development]

artículo científico publicado en 2013

[Genetics and nephrotic syndrome]

artículo científico publicado en 1998

Lista de obras de Cécile Jeanpierre

11p15.5-specific libraries for identification of potential gene sequences involved in Beckwith-Wiedemann syndrome and tumorigenesis.

A highly polymorphic probe on 11p15.5: L22.5.2 (D11S774).

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

Antioncogenes: models for tumors in children

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Changes in WT1 splicing are associated with a specific gene expression profile in Wilms' tumour

Characterization of a panel of somatic cell hybrids for subregional mapping along 11p and within band 11p13. Subdivision of the WAGR complex region.

Characterization of regions of chromosomes 12 and 16 involved in nephroblastoma tumorigenesis

Chromosomal assignment of the uromodulin gene (UMOD) to 16p13.11

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

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

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

Correlations of allelic imbalance of chromosome 14 with adverse prognostic parameters in 148 renal cell carcinomas

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis

Deducing the stage of origin of Wilms' tumours from a developmental series of Wt1-mutant mice

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

Frequent overexpression of cyclin D2/cyclin-dependent kinase 4 in Wilms' tumor

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

Gonad development in Drash and Frasier syndromes depends on WT1 mutations

High cyclin E staining index in blastemal, stromal or epithelial cells is correlated with tumor aggressiveness in patients with nephroblastoma

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

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

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

Management of Wilms tumors in Drash and Frasier syndromes.

Molecular cytogenetic anomalies and phenotype alterations in a newly established cell line from Wilms tumor with diffuse anaplasia.

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

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

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

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

Profiling of differential gene expression in Wilms tumor by cDNA expression array.

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

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

Sex reversal and diaphragmatic hernia in phenotypicaly female sibs with normal XY chromosomes.

Small glomeruli in WAGR (Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation) syndrome

Software and database for the analysis of mutations in the human WT1 gene

Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations

Surgical management and genotype/phenotype correlations in WT1 gene–related diseases (drash, frasier syndromes)

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

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

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

WT1 splicing alterations in Wilms' tumors

Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).

Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas

[FGF9 and FGF20 maintain the stemness of nephron progenitors during kidney development]

[Genetics and nephrotic syndrome]