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Publications

A staging system for correct phenotype interpretation of mouse embryos harvested on embryonic day 14 (E14.5).

Geyer SH. et al, (2017), J Anat, 230, 710 - 719

Pcsk5 is required in the early cranio-cardiac mesoderm for heart development.

Szumska D. et al, (2017), BMC Dev Biol, 17, 6 - 6

ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome.

Zak J. et al, (2016), Cell death and differentiation

Functional analysis of AEBP2, a PRC2 Polycomb protein, reveals a Trithorax phenotype in embryonic development and in ES cells

Grijzenhout A. et al, (2016), Development

Deciphering the mechanisms of developmental disorders: phenotype analysis of embryos from mutant mouse lines.

Wilson R. et al, (2016), Nucleic Acids Res, 44, D855 - D861

Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice.

Wilson R. et al, (2016), Wellcome Open Res, 1

HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region.

Dykes IM. et al, (2014), Circ Res, 115, 23 - 31

Mice carrying a hypomorphic Evi1 allele are embryonic viable but exhibit severe congenital heart defects.

Bard-Chapeau EA. et al, (2014), PLoS One, 9

Glucocorticoid receptor is required for foetal heart maturation.

Rog-Zielinska EA. et al, (2013), Hum Mol Genet, 22, 3269 - 3282

Site specific mutation of the Zic2 locus by microinjection of TALEN mRNA in mouse CD1, C3H and C57BL/6J oocytes.

Davies B. et al, (2013), PLoS One, 8

Loss of endothelial furin leads to cardiac malformation and early postnatal death.

Kim W. et al, (2012), Mol Cell Biol, 32, 3382 - 3391

Biallelic expression of Tbx1 protects the embryo from developmental defects caused by increased receptor tyrosine kinase signaling.

Simrick S. et al, (2012), Dev Dyn, 241, 1310 - 1324

Nprl3 is required for normal development of the cardiovascular system.

Kowalczyk MS. et al, (2012), Mamm Genome, 23, 404 - 415

Pitx2 confers left morphological, molecular, and functional identity to the sinus venosus myocardium.

Ammirabile G. et al, (2012), Cardiovasc Res, 93, 291 - 301

Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.

Engelen E. et al, (2011), Nat Genet, 43, 607 - 611

A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy.

Ashrafian H. et al, (2010), PLoS Genet, 6

Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome.

van Bueren KL. et al, (2010), Dev Biol, 340, 369 - 380

Tagged mutagenesis by efficient Minos-based germ line transposition.

de Wit T. et al, (2010), Mol Cell Biol, 30, 68 - 77

VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5.

Szumska D. et al, (2008), Genes Dev, 22, 1465 - 1477

microMRI-HREM pipeline for high-throughput, high-resolution phenotyping of murine embryos.

Pieles G. et al, (2007), J Anat, 211, 132 - 137

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