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List of works by Philip Stanier

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

scientific article published in Nature

A common polymorphism in exon 16 of the human insulin-like growth factor-1 receptor gene (IGF1R)

scientific article published on 01 October 1997

A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia

scientific article published on 01 August 2009

A new biological and clinical resource for research into pregnancy complications: The Baby Bio Bank

scientific article

A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.

scientific article

Abnormal folate metabolism in foetuses affected by neural tube defects

scientific article published on April 2007

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

Analysis of the planar cell polarity geneVangl2 and its co-expressed paralogVangl1 in neural tube defect patients (Am J Med Genet 136A: 90-92, 2005)

article

Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages.

scientific article published on 11 March 2019

Antimony concentrations in equine serum

scientific article published on 01 August 1983

Autosomal-dominant ankyloglossia and tooth number anomalies

scientific article published on 30 December 2009

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

scientific article published on 16 August 2002

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

Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations

scientific article published on 19 January 2011

Cloning and characterization of Igsf9 in mouse and human: a new member of the immunoglobulin superfamily expressed in the developing nervous system.

scientific article

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

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

Comparative physical and transcript maps of approximately 1 Mb around loop-tail, a gene for severe neural tube defects on distal mouse chromosome 1 and human chromosome 1q22-q23.

scientific article published in March 2001

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

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

scientific article

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

scientific article published on 17 January 2018

Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus

scientific article published on 01 November 1988

Detection of human cytomegalovirus in peripheral mononuclear cells and urine samples using PCR

scientific article published on 01 February 1992

Development of the lip and palate: FGF signalling.

scientific article published on 25 June 2012

Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects

scientific article

Disruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family

scientific article published on 27 March 2019

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

scientific article (publication date: 15 January 2003)

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

scientific article

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

scientific article

Enrichment of clinically relevant organisms in spontaneous preterm delivered placenta and reagent contamination across all clinical groups in a large UK pregnancy cohort.

scientific article

Epigenetic signatures of Silver-Russell syndrome.

scientific article published on March 2010

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

scientific article published on 9 June 2016

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

scientific article

Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects

article

Evidence that insulin is imprinted in the human yolk sac

scientific article published on 01 January 2001

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

Expression of a common cellular phospholipase A2 by human intrauterine tissues

scientific article published on 01 February 1993

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

scientific article published in The Lancet

Fat dads must not be blamed for their children's health problems

scientific article

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

scientific article

Genetic Analyses in Small for Gestational Age Newborns.

scientific article published on 12 January 2018

Genetic basis of neural tube defects: the mouse gene loop-tail maps to a region of chromosome 1 syntenic with human 1q21-q23

scientific article published on 01 April 1995

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

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

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

scientific article published on 21 April 2014

Genetics of human neural tube defects

scientific article

Genetics of silver-russell syndrome

scientific article published on 01 January 1998

Genome-wide methylation analysis in Silver-Russell syndrome patients

scientific article

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

scientific article published in January 2003

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

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

scientific article

Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues

scientific article published on 01 March 1998

Identification and characterization of KLHL4, a novel human homologue of the Drosophila Kelch gene that maps within the X-linked cleft palate and Ankyloglossia (CPX) critical region.

scientific article published in March 2001

Identification and validation of loss of function variants in clinical contexts

scientific article published on 11 October 2013

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

scientific article published on 26 July 2017

Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants

scientific article published on 28 June 2016

Imprinted genes and their role in human fetal growth.

scientific article published in January 2006

Imprinted methylation profiles for proximal mouse chromosomes 11 and 7 as revealed by methylation-sensitive representational difference analysis

scientific article published in December 2003

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

scientific article

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

scientific article published on 24 August 2007

Investigation of SUMO pathway genes in the etiology of nonsyndromic cleft lip with or without cleft palate.

scientific article published on 10 April 2012

Investigation of the Annexin A5 M2 haplotype in 500 white European couples who have experienced recurrent spontaneous abortion

scientific article published on 17 July 2015

Investigation of the GRB2, GRB7, and CSH1 genes as candidates for the Silver-Russell syndrome (SRS) on chromosome 17q.

scientific article published in March 2002

Is LMNB1 a susceptibility gene for neural tube defects in humans?

scientific article

Lack of hemizygosity for the insulin-like growth factor I receptor gene in a quantitative study of 33 Silver Russell syndrome probands and their families

scientific article published on July 1, 1997

Lack of mutations in ZIC3 in three families with neural tube defects

scientific article published on 01 January 2001

Linkage mapping of Lims1l, the murine homolog of the human LIM domain gene PINCH, to mouse chromosome 10

scientific article published on 01 January 1998

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

scientific article published in November 1985

Localization of the mouse gene encoding tyrosine kinase receptor type 10 on distal chromosome 1

scientific article published on 01 December 1997

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

scientific article published on 22 March 2012

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

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

scientific article

Molecular cloning and characterization of a highly conserved human 67-kDa laminin receptor pseudogene mapping to Xq21.3.

scientific article

Molecular genetic etiology of twin reversed arterial perfusion sequence

scientific article published on 01 March 1996

Molybdenum concentrations in equine serum

scientific article published on 01 November 1983

Mouse Models of Syndromic Craniosynostosis

scientific article published on 13 July 2018

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

scientific article published on 07 February 2013

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)

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice

scientific article

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome.

scientific article published in June 2015

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

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

scientific article

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

scientific article

Neonatal buccal cell collection for DNA analysis.

scientific article published in March 2005

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

scientific article

New PCR primers for the sensitive detection and specific identification of group B beta-hemolytic streptococci in cerebrospinal fluid

scientific article published on 01 October 1999

No evidence for mosaicism in Silver-Russell syndrome.

scientific article published in April 2001

Novel RFLPs and microsatellite repeats increase informativity at four loci mapping to Xq22-q25

scientific article published on 01 February 1994

Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice.

scientific article published in December 2018

Overexpression of causes craniofacial bone hypoplasia and ameliorates craniosynostosis in the Crouzon mouse

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

scientific article published on 15 January 2014

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

scientific article published on October 1989

Physical and transcriptional map of a 3-Mb region of mouse chromosome 1 containing the gene for the neural tube defect mutant loop-tail (Lp).

scientific article

Physical and transcriptional mapping of the X-linked cleft palate and ankyloglossia (CPX) critical region

scientific article published on 01 June 2001

Polymorphic dinucleotide repeat at the DXS3 locus

scientific article published on September 1991

Refined mapping and YAC contig construction of the X-linked cleft palate and ankyloglossia locus (CPX) including the proximal X-Y homology breakpoint within Xq21.3.

scientific article published on 01 January 1996

Refinement of the X-linked cleft palate and ankyloglossia (CPX) localisation by genetic mapping in an Icelandic kindred

scientific article published on 01 March 1995

SNX14 mutations affect endoplasmic reticulum associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.

scientific article published on 9 April 2018

STOX1 is not imprinted and is not likely to be involved in preeclampsia

scientific article published on 01 March 2007

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

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

Silver-Russell syndrome and ring chromosome 7.

scientific article published in May 2000

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

scientific article published on December 1, 2001

Simple non-invasive method to obtain DNA for gene analysis

scientific article published on 01 June 1988

Spina bifida-predisposing heterozygous mutations in Planar Cell Polarity genes and Zic2 reduce bone mass in young mice.

scientific article published on 20 February 2018

Sumoylation in Craniofacial Disorders

scientific article published on January 2017

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

scientific article

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

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

scientific article published in June 2010

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

scientific article published on 23 October 2008

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

scientific article

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

scientific article

The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome

scientific article

The localization of a gene causing X-linked cleft palate and ankyloglossia (CPX) in an Icelandic kindred is between DXS326 and DXYS1X

scientific article published on 01 September 1993

The role and interaction of imprinted genes in human fetal growth

scientific article

The speech geneFOXP2is not imprinted

article

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

scientific article

Two unusual cases of first trimester prenatal diagnosis of cystic fibrosis using DNA probes

scientific article published on 01 March 1987

X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.

scientific article published on 7 August 2012

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