Lista de obras - Erwin Pauws - Dominio Público Uruguay

A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia

artículo científico publicado en 2009

A novel homeobox gene overexpressed in thyroid carcinoma

artículo científico publicado en 2004

Absence of activating mutations in ras and gsp oncogenes in a cohort of nine patients with sporadic pediatric thyroid tumors

scientific article published on 01 June 2001

Analysis of the Fgfr2C342Y mouse model shows condensation defects due to misregulation of Sox9 expression in prechondrocytic mesenchyme

scientific article published on 09 January 2017

Bloomsbury report on mouse embryo phenotyping: recommendations from the IMPC workshop on embryonic lethal screening

artículo científico publicado en 2013

Bloomsbury report on mouse embryo phenotyping: recommendations from the IMPC workshop on embryonic lethal screening

Characterizing the skull base in craniofacial microsomia using principal component analysis.

artículo científico publicado en 2017

Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations

scientific article published on 19 January 2011

Cloning of tissue-specific genes using serial analysis of gene expression and a novel computational substraction approach.

artículo científico publicado en 2001

Development of the lip and palate: FGF signalling.

artículo científico

Disruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family

scientific article published on 27 March 2019

Extracraniofacial anomalies in craniofacial microsomia: retrospective analysis of 991 patients

scientific article published on 13 March 2019

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

artículo científico publicado en 2015

Heterogeneity in polyadenylation cleavage sites in mammalian mRNA sequences: implications for SAGE analysis.

artículo científico publicado en 2001

Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse model

scientific article published on 24 August 2007

Investigation of SUMO pathway genes in the etiology of nonsyndromic cleft lip with or without cleft palate.

artículo científico publicado en 2012

Mechanical properties of calvarial bones in a mouse model for craniosynostosis

artículo científico publicado en 2015

Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.

artículo científico publicado en 2018

Mouse Models of Syndromic Craniosynostosis

artículo científico publicado en 2018

Overexpression of causes craniofacial bone hypoplasia and ameliorates craniosynostosis in the Crouzon mouse

Predicting calvarial growth in normal and craniosynostotic mice using a computational approach

artículo científico publicado en 2017

Sumoylation in Craniofacial Disorders

artículo científico publicado en 2017

TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression

artículo científico publicado en 2007

Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes.

artículo científico publicado en 2009

Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes.

artículo científico publicado en 2010

The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice.

artículo científico publicado en 2008

The revised 8307 base pair coding sequence of human thyroglobulin transiently expressed in eukaryotic cells.

artículo científico publicado en 1997

Up to date with human thyroglobulin.

artículo científico publicado en 2001

X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.

artículo científico publicado en 2012

Lista de obras de Erwin Pauws

A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia

A novel homeobox gene overexpressed in thyroid carcinoma

Absence of activating mutations in ras and gsp oncogenes in a cohort of nine patients with sporadic pediatric thyroid tumors

Analysis of the Fgfr2C342Y mouse model shows condensation defects due to misregulation of Sox9 expression in prechondrocytic mesenchyme

Bloomsbury report on mouse embryo phenotyping: recommendations from the IMPC workshop on embryonic lethal screening

Bloomsbury report on mouse embryo phenotyping: recommendations from the IMPC workshop on embryonic lethal screening

Characterizing the skull base in craniofacial microsomia using principal component analysis.

Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations

Cloning of tissue-specific genes using serial analysis of gene expression and a novel computational substraction approach.

Development of the lip and palate: FGF signalling.

Disruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family

Extracraniofacial anomalies in craniofacial microsomia: retrospective analysis of 991 patients

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

Heterogeneity in polyadenylation cleavage sites in mammalian mRNA sequences: implications for SAGE analysis.

Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse model

Investigation of SUMO pathway genes in the etiology of nonsyndromic cleft lip with or without cleft palate.

Mechanical properties of calvarial bones in a mouse model for craniosynostosis

Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.

Mouse Models of Syndromic Craniosynostosis

Overexpression of causes craniofacial bone hypoplasia and ameliorates craniosynostosis in the Crouzon mouse

Predicting calvarial growth in normal and craniosynostotic mice using a computational approach

Sumoylation in Craniofacial Disorders

TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression

Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes.

Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes.

The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice.

The revised 8307 base pair coding sequence of human thyroglobulin transiently expressed in eukaryotic cells.

Up to date with human thyroglobulin.

X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.