Lista de obras - Claus E Ott - Dominio Público Uruguay

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.

artículo científico publicado en 2008

A novel mutation in CDH11 , encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome

artículo científico publicado en 2018

BMPs as new insulin sensitizers: enhanced glucose uptake in mature 3T3-L1 adipocytes via PPARγ and GLUT4 upregulation.

artículo científico publicado en 2017

Biaxial cell stimulation: A mechanical validation.

artículo científico publicado en 2009

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

artículo científico publicado en 2009

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

artículo científico publicado en 2007

Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing

artículo científico publicado en 2011

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

artículo científico publicado en 2010

Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes

article

Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient

artículo científico publicado en 2015

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

artículo científico publicado en 2009

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study

artículo científico publicado en 2020

Evaluation of the role of STAP1 in Familial Hypercholesterolemia

artículo científico publicado en 2019

Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica.

artículo científico publicado en 2018

Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome.

artículo científico publicado en 2014

MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites

artículo científico publicado en 2011

Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia

artículo científico publicado en 2012

PEDIA: prioritization of exome data by image analysis

artículo científico publicado en 2019

Quantification and significance of fluid shear stress field in biaxial cell stretching device

artículo científico publicado en 2010

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

artículo científico publicado en 2014

The Interaction of BMP2-Induced Defect Healing in Rat and Fixator Stiffness Modulates Matrix Alignment and Contraction

artículo científico publicado en 2018

The fibrillin-1 hypomorphic mgR/mgR murine model of Marfan syndrome shows severe elastolysis in all segments of the aorta.

artículo científico publicado en 2013

Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses.

artículo científico publicado en 2018

miR-181a promotes osteoblastic differentiation through repression of TGF-β signaling molecules.

artículo científico publicado en 2012

Lista de obras de Claus E Ott

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.

A novel mutation in CDH11 , encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome

BMPs as new insulin sensitizers: enhanced glucose uptake in mature 3T3-L1 adipocytes via PPARγ and GLUT4 upregulation.

Biaxial cell stimulation: A mechanical validation.

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes

Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study

Evaluation of the role of STAP1 in Familial Hypercholesterolemia

Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica.

Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome.

MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites

Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia

PEDIA: prioritization of exome data by image analysis

Quantification and significance of fluid shear stress field in biaxial cell stretching device

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

The Interaction of BMP2-Induced Defect Healing in Rat and Fixator Stiffness Modulates Matrix Alignment and Contraction

The fibrillin-1 hypomorphic mgR/mgR murine model of Marfan syndrome shows severe elastolysis in all segments of the aorta.

Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses.

miR-181a promotes osteoblastic differentiation through repression of TGF-β signaling molecules.