Lista de obras -

A genomic atlas of human adrenal and gonad development

artículo científico publicado en 2017

Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency ⬇️

artículo científico publicado en 2012

Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism

artículo científico publicado en 2008

CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease

artículo científico publicado en 2008

Common Polymorphisms in theSERPINI2Gene Are Associated with Refractive Error in the 1958 British Birth Cohort

article

Comparison of Iroquois gene expression in limbs/fins of vertebrate embryos

artículo científico publicado en 2010

Convergent extension, planar-cell-polarity signalling and initiation of mouse neural tube closure

scientific journal article

Cordon-bleu is a conserved gene involved in neural tube formation

artículo científico publicado en 2003

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

artículo científico publicado en 2019

Distinct expression patterns for type II topoisomerases IIA and IIB in the early foetal human telencephalon.

artículo científico publicado en 2015

Enabling research with human embryonic and fetal tissue resources.

artículo científico publicado en 2015

FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder

artículo científico publicado en 2003

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene

artículo científico publicado en 2009

Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation

artículo científico publicado en 2007

Genomic organization and embryonic expression of Igsf8, an immunoglobulin superfamily member implicated in development of the nervous system and organ epithelia

artículo científico publicado en 2003

HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development

artículo científico publicado en 2016

Heterozygous mutations of OTX2 cause severe ocular malformations

artículo científico publicado en 2005

Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signaling

artículo científico publicado en 2011

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

artículo científico publicado en 2017

Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways

artículo científico publicado en 2008

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis

scientific journal article

Neuronal function of Tbx20 conserved from nematodes to vertebrates.

artículo científico publicado en 2008

Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction

artículo científico publicado en 2011

Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss

artículo científico publicado en 2008

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

artículo científico publicado en 2011

Redefining the Etiologic Landscape of Cerebellar Malformations

artículo científico publicado en 2019

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators

artículo científico publicado en 2009

SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development

artículo científico publicado en 2008

Sonic hedgehog and the molecular regulation of mouse neural tube closure

artículo científico publicado en 2002

Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum

artículo científico publicado en 2019

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

artículo científico publicado en 2007

Transient expression of the conserved zinc finger gene INSM1 in progenitors and nascent neurons throughout embryonic and adult neurogenesis

artículo científico publicado en 2008

Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development

artículo científico publicado en 2018

Lista de obras de

A genomic atlas of human adrenal and gonad development

Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency ⬇️

Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism

CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease

Common Polymorphisms in theSERPINI2Gene Are Associated with Refractive Error in the 1958 British Birth Cohort

Comparison of Iroquois gene expression in limbs/fins of vertebrate embryos

Convergent extension, planar-cell-polarity signalling and initiation of mouse neural tube closure

Cordon-bleu is a conserved gene involved in neural tube formation

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

Distinct expression patterns for type II topoisomerases IIA and IIB in the early foetal human telencephalon.

Enabling research with human embryonic and fetal tissue resources.

FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene

Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation

Genomic organization and embryonic expression of Igsf8, an immunoglobulin superfamily member implicated in development of the nervous system and organ epithelia

HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development

Heterozygous mutations of OTX2 cause severe ocular malformations

Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signaling

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis

Neuronal function of Tbx20 conserved from nematodes to vertebrates.

Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction

Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

Redefining the Etiologic Landscape of Cerebellar Malformations

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators

SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development

Sonic hedgehog and the molecular regulation of mouse neural tube closure

Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

Transient expression of the conserved zinc finger gene INSM1 in progenitors and nascent neurons throughout embryonic and adult neurogenesis

Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development