List of works - Robert Pogue

A transcriptional profile of human fetal cartilage.

scientific article

Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy

scientific article published on 01 December 1996

Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis

scientific article

Analysis of clones from a human cartilage cDNA library provides insight into chondrocyte gene expression and identifies novel candidate genes for the osteochondrodysplasias

scientific article published in May 2003

BMP signaling in the cartilage growth plate.

scientific article published on January 2006

BMPs regulate multiple aspects of growth-plate chondrogenesis through opposing actions on FGF pathways.

scientific article published on 25 October 2006

Breaking the frontiers of cosmetology with antimicrobial peptides

scientific article published on 14 August 2018

Calpainopathy-a survey of mutations and polymorphisms

scientific article published on June 1999

Cardiomyopathy in duchenne, becker, and sarcoglycanopathies: a role for coronary dysfunction?

scientific article published on 01 November 1999

Comparative transcriptomic analysis indicates genes associated with local and systemic resistance to Colletotrichum graminicola in maize

scientific article

Computational Investigation of Growth Hormone Receptor Trp169Arg Heterozygous Mutation in a Child With Short Stature

scientific article published on 18 May 2017

Human iPSC-Derived Retinal Pigment Epithelium: A Model System for Prioritizing and Functionally Characterizing Causal Variants at AMD Risk Loci.

scientific article published on 9 May 2019

IDR-1018 induces cell proliferation, migration, and reparative gene expression in 2D culture and 3D human skin equivalents

scientific article published on 26 August 2019

Intraovarian injection of mesenchymal stem cells improves oocyte yield and in vitro embryo production in a bovine model of fertility loss

scientific article published on 15 May 2020

Multiplex SSCP and heteroduplex analysis with Southern hybridization for large-scale mutation detection

scientific article published on 01 November 1998

Partial trisomy 17q and partial monosomy 20q in a boy with craniosynostosis

article

Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A

scientific article published on 05 January 2020

Plant storage proteins with antimicrobial activity: novel insights into plant defense mechanisms.

scientific article published on 11 July 2011

Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain

article

Rare genetic diseases: update on diagnosis, treatment and online resources

scientific article

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

article

Shedding some light over the floral metabolism by arum lily (Zantedeschia aethiopica) spathe de novo transcriptome assembly

scientific article

Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half-siblings.

scientific article published on 31 March 2017

Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies

scientific article published on 01 January 2001

Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing

scientific article published on 16 October 2018

The exon 3 polymorphism of the growth hormone receptor is a severity-related factor for osteoporosis.

scientific article published on 28 June 2013

The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach

scientific article published on 01 April 2001

Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders

scientific article published on 18 September 2015

Use of microRNAs in directing therapy and evaluating treatment response in colorectal cancer

scientific article published on April 2014

List of works by Robert Pogue

A transcriptional profile of human fetal cartilage.

Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy

Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis

Analysis of clones from a human cartilage cDNA library provides insight into chondrocyte gene expression and identifies novel candidate genes for the osteochondrodysplasias

BMP signaling in the cartilage growth plate.

BMPs regulate multiple aspects of growth-plate chondrogenesis through opposing actions on FGF pathways.

Breaking the frontiers of cosmetology with antimicrobial peptides

Calpainopathy-a survey of mutations and polymorphisms

Cardiomyopathy in duchenne, becker, and sarcoglycanopathies: a role for coronary dysfunction?

Comparative transcriptomic analysis indicates genes associated with local and systemic resistance to Colletotrichum graminicola in maize

Computational Investigation of Growth Hormone Receptor Trp169Arg Heterozygous Mutation in a Child With Short Stature

Human iPSC-Derived Retinal Pigment Epithelium: A Model System for Prioritizing and Functionally Characterizing Causal Variants at AMD Risk Loci.

IDR-1018 induces cell proliferation, migration, and reparative gene expression in 2D culture and 3D human skin equivalents

Intraovarian injection of mesenchymal stem cells improves oocyte yield and in vitro embryo production in a bovine model of fertility loss

Multiplex SSCP and heteroduplex analysis with Southern hybridization for large-scale mutation detection

Partial trisomy 17q and partial monosomy 20q in a boy with craniosynostosis

Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A

Plant storage proteins with antimicrobial activity: novel insights into plant defense mechanisms.

Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain

Rare genetic diseases: update on diagnosis, treatment and online resources

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

Shedding some light over the floral metabolism by arum lily (Zantedeschia aethiopica) spathe de novo transcriptome assembly

Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half-siblings.

Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies

Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing

The exon 3 polymorphism of the growth hormone receptor is a severity-related factor for osteoporosis.

The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach

Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders

Use of microRNAs in directing therapy and evaluating treatment response in colorectal cancer