List of works - Philip Stanier

Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse

scientific article (publication date: July 2003)

A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands

scientific article published in Nature

Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification

scientific journal article

Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse

scientific article (publication date: 15 January 2003)

Simple non-invasive method to obtain DNA for gene analysis

scientific article published on 01 June 1988

Neural tube defects: recent advances, unsolved questions, and controversies

scientific article

Genetics of human neural tube defects

scientific article

Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts

scientific article published on 13 January 2004

The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.

scientific article

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

scientific article

Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS

scientific article published on 07 February 2013

Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis

scientific article

Elevated placental expression of the imprinted PHLDA2 gene is associated with low birth weight

scientific article

Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark

scientific article published on May 1, 2003

Imprinting of IGF2 P0 transcript and novel alternatively spliced INS-IGF2 isoforms show differences between mouse and human.

scientific article

Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene.

scientific article published in June 1991

Circletail, a new mouse mutant with severe neural tube defects: chromosomal localization and interaction with the loop-tail mutation

scientific article published on 01 November 2001

Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome

scientific article

Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans

scientific article published on 13 December 2011

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

scientific article published on 31 July 2009

The role and interaction of imprinted genes in human fetal growth

scientific article

Persistence of cytomegalovirus in mononuclear cells in peripheral blood from blood donors

scientific article published on October 1989

FIRST-TRIMESTER PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS WITH LINKED DNA PROBES

scientific article published in The Lancet

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

scientific article

Comparative analysis of human chromosome 7q21 and mouse proximal chromosome 6 reveals a placental-specific imprinted gene, TFPI2/Tfpi2, which requires EHMT2 and EED for allelic-silencing

scientific article published on 14 May 2008

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

scientific article published on 24 August 2007

Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.

scientific article

Genetics of cleft lip and/or cleft palate: association with other common anomalies

scientific article published on 21 April 2014

Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions

scientific article published on December 1, 2001

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

scientific article

High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta.

scientific article

Linkage of COL1A2 collagen gene to cystic fibrosis, and its clinical implications

scientific article published in November 1985

Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate

scientific article published on 22 March 2016

Evidence that insulin is imprinted in the human yolk sac

scientific article published on 01 January 2001

Abnormal folate metabolism in foetuses affected by neural tube defects

scientific article published on April 2007

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome

scientific article

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

scientific article published on 23 October 2008

Analysis of the planar cell polarity gene Vangl2 and its co-expressed paralogue Vangl1 in neural tube defect patients.

scientific article published in July 2005

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

scientific article

The effects of culture on genomic imprinting profiles in human embryonic and fetal mesenchymal stem cells

scientific article

Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice

scientific article

Trans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse models

scientific article

Development of the lip and palate: FGF signalling.

scientific article published on 25 June 2012

Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.

scientific article published on 16 August 2002

Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development

scientific article

Expression of CYP2E1 during human fetal development: methylation of the CYP2E1 gene in human fetal and adult liver samples

scientific article published on April 15, 1992

Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight

scientific article published on 22 March 2012

Paternally expressed, imprinted insulin-like growth factor-2 in chorionic villi correlates significantly with birth weight

scientific article published on 15 January 2014

Evaluation of allelic expression of imprinted genes in adult human blood.

scientific article

Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome.

scientific article published in February 2001

List of works by Philip Stanier

Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse

A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands

Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification

Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse

Simple non-invasive method to obtain DNA for gene analysis

Neural tube defects: recent advances, unsolved questions, and controversies

Genetics of human neural tube defects

Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts

The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS

Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis

Elevated placental expression of the imprinted PHLDA2 gene is associated with low birth weight

Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark

Imprinting of IGF2 P0 transcript and novel alternatively spliced INS-IGF2 isoforms show differences between mouse and human.

Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene.

Circletail, a new mouse mutant with severe neural tube defects: chromosomal localization and interaction with the loop-tail mutation

Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome

Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans

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

The role and interaction of imprinted genes in human fetal growth

Persistence of cytomegalovirus in mononuclear cells in peripheral blood from blood donors

FIRST-TRIMESTER PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS WITH LINKED DNA PROBES

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

Comparative analysis of human chromosome 7q21 and mouse proximal chromosome 6 reveals a placental-specific imprinted gene, TFPI2/Tfpi2, which requires EHMT2 and EED for allelic-silencing

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

Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.

Genetics of cleft lip and/or cleft palate: association with other common anomalies

Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta.

Linkage of COL1A2 collagen gene to cystic fibrosis, and its clinical implications

Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate

Evidence that insulin is imprinted in the human yolk sac

Abnormal folate metabolism in foetuses affected by neural tube defects

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome

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

Analysis of the planar cell polarity gene Vangl2 and its co-expressed paralogue Vangl1 in neural tube defect patients.

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

The effects of culture on genomic imprinting profiles in human embryonic and fetal mesenchymal stem cells

Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice

Trans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse models

Development of the lip and palate: FGF signalling.

Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.

Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development

Expression of CYP2E1 during human fetal development: methylation of the CYP2E1 gene in human fetal and adult liver samples

Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight

Paternally expressed, imprinted insulin-like growth factor-2 in chorionic villi correlates significantly with birth weight

Evaluation of allelic expression of imprinted genes in adult human blood.

Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome.