Philip Stanier

Philip Stanier

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Philip Stanier

Philip Stanier

Publications by authors named "Philip Stanier"

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Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans.

Hum Mol Genet 2019 Oct;28(20):3466-3474

Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1093/hmg/ddz203DOI Listing
October 2019

Familial Absent Uvula With Velopharyngeal Incompetence-A New Syndrome?

Cleft Palate Craniofac J 2019 Oct 13:1055665619880401. Epub 2019 Oct 13.

North Thames Cleft Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London and St Andrew's Centre, Broomfield Hospital, Chelmsford, Essex, United Kingdom.

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http://dx.doi.org/10.1177/1055665619880401DOI Listing
October 2019

Mouse Models of Syndromic Craniosynostosis.

Mol Syndromol 2019 Feb 13;10(1-2):58-73. Epub 2018 Jul 13.

UCL Great Ormond Street Institute of Child Health, London, UK.

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https://www.karger.com/Article/FullText/491004
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http://dx.doi.org/10.1159/000491004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6422119PMC
February 2019

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

Dis Model Mech 2018 11 9;11(11). Epub 2018 Nov 9.

Developmental Biology and Cancer Programme, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK

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http://dmm.biologists.org/lookup/doi/10.1242/dmm.035311
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http://dx.doi.org/10.1242/dmm.035311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262810PMC
November 2018

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

Sci Rep 2018 02 20;8(1):3325. Epub 2018 Feb 20.

Developmental Biology of Birth Defects, UCL GOS Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1038/s41598-018-21718-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820290PMC
February 2018

Sumoylation in Craniofacial Disorders.

Adv Exp Med Biol 2017 ;963:323-335

Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1007/978-3-319-50044-7_19DOI Listing
September 2017

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

Sci Rep 2017 05 26;7(1):2441. Epub 2017 May 26.

Centro de Pesquisas Sobre o Genoma Humano e Células-Tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1038/s41598-017-02721-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5446392PMC
May 2017

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

Reprod Biomed Online 2015 Nov 17;31(5):681-8. Epub 2015 Jul 17.

Department of Obstetrics and Gynaecology, St. Mary's Campus, Imperial College London, London, UK.

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http://dx.doi.org/10.1016/j.rbmo.2015.07.004DOI Listing
November 2015

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

Dis Model Mech 2014 Oct 15;7(10):1153-63. Epub 2014 Aug 15.

Newlife Birth Defects Research Centre, Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1242/dmm.016758DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4174526PMC
October 2014

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

Eur J Med Genet 2014 Aug 21;57(8):381-93. Epub 2014 Apr 21.

UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.04.003DOI Listing
August 2014

Identification and validation of loss of function variants in clinical contexts.

Mol Genet Genomic Med 2014 Jan 11;2(1):58-63. Epub 2013 Oct 11.

University College London, Institute of Child Health, GOSgene team London, U.K.

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http://dx.doi.org/10.1002/mgg3.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3907911PMC
January 2014

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

Lancet Neurol 2013 Aug 19;12(8):799-810. Epub 2013 Jun 19.

Neural Development Unit and Newlife Birth Defects Research Centre, UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1016/S1474-4422(13)70110-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023229PMC
August 2013

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

Birth Defects Res A Clin Mol Teratol 2013 Jun 3;97(6):398-402. Epub 2013 Jun 3.

Neural Development Unit and Newlife Birth Defects Research Centre, Institute of Child Health, University College London, United Kingdom.

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http://dx.doi.org/10.1002/bdra.23141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738925PMC
June 2013

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

BMC Med 2013 Feb 6;11:30. Epub 2013 Feb 6.

Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1186/1741-7015-11-30DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3584737PMC
February 2013

The speech gene FOXP2 is not imprinted.

J Med Genet 2012 Nov 2;49(11):669-70. Epub 2012 Oct 2.

Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1136/jmedgenet-2012-101242DOI Listing
November 2012

Development of the lip and palate: FGF signalling.

Front Oral Biol 2012 25;16:71-80. Epub 2012 Jun 25.

UCL Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1159/000337618DOI Listing
September 2012

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

Birth Defects Res A Clin Mol Teratol 2012 Jun 10;94(6):459-63. Epub 2012 Apr 10.

UCL Institute of Child Health, London, United Kingdom.

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http://dx.doi.org/10.1002/bdra.23008DOI Listing
June 2012

The emerging role of epigenetic mechanisms in the etiology of neural tube defects.

Epigenetics 2011 Jul 1;6(7):875-83. Epub 2011 Jul 1.

Neural Development Unit, Institute of Child Health, UCL, London, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3154428PMC
http://dx.doi.org/10.4161/epi.6.7.16400DOI Listing
July 2011

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

PLoS One 2010 Oct 21;5(10):e13556. Epub 2010 Oct 21.

Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, London, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0013556PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2958851PMC
October 2010

Epigenetic signatures of Silver-Russell syndrome.

J Med Genet 2010 Mar;47(3):150-4

Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK.

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http://dx.doi.org/10.1136/jmg.2009.071316DOI Listing
March 2010

Genetics of human neural tube defects.

Hum Mol Genet 2009 Oct;18(R2):R113-29

Neural Development Unit, UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1093/hmg/ddp347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2758708PMC
October 2009

Reciprocal imprinting of human GRB10 in placental trophoblast and brain: evolutionary conservation of reversed allelic expression.

Hum Mol Genet 2009 Aug 1;18(16):3066-74. Epub 2009 Jun 1.

Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, London WC1N 1EH, UK.

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http://dx.doi.org/10.1093/hmg/ddp248DOI Listing
August 2009

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

Development 2008 Dec 23;135(23):3959-68. Epub 2008 Oct 23.

Department of Biomedical Genetics and Center for Oral Biology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA.

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http://dx.doi.org/10.1242/dev.025304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2586179PMC
December 2008

FGF signalling and SUMO modification: new players in the aetiology of cleft lip and/or palate.

Trends Genet 2007 Dec 5;23(12):631-40. Epub 2007 Nov 5.

Neural Development Unit, Institute of Child Health, University College London, 30 Guilford Street, WC1N 1EH London, UK.

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http://www.cell.com/trends/genetics/pdf/S0168-9525(07)00306-
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http://dx.doi.org/10.1016/j.tig.2007.09.002DOI Listing
December 2007

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

Hum Mol Genet 2007 Nov 24;16(21):2640-6. Epub 2007 Aug 24.

Neural Development Unit, Institute of Child Health, University College London, Guilford Street, London WC1N 1EH, UK.

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http://dx.doi.org/10.1093/hmg/ddm221DOI Listing
November 2007

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.

Am J Hum Genet 2006 Nov 21;79(5):859-68. Epub 2006 Sep 21.

Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College, Hammersmith Hospital London, United Kingdom.

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http://dx.doi.org/10.1086/508500DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1698560PMC
November 2006

Epithelial cell polarity genes are required for neural tube closure.

Am J Med Genet C Semin Med Genet 2005 May;135C(1):42-7

Institute of Development and Reproductive Biology, Imperial College, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.c.30052DOI Listing
May 2005

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

Hum Mol Genet 2004 Apr 13;13 Spec No 1:R73-81. Epub 2004 Jan 13.

Institute of Reproductive and Developmental Biology, Imperial College London, London W12 0NN, UK.

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http://dx.doi.org/10.1093/hmg/ddh052DOI Listing
April 2004

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

Mamm Genome 2003 Dec;14(12):805-16

Institute of Reproductive and Developmental Biology, Imperial College London, Hammersmith Campus, Du Cane Road, London W12 0NN, UK.

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http://dx.doi.org/10.1007/s00335-003-2287-7DOI Listing
December 2003

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

Hum Mol Genet 2003 Jan;12(2):87-98

Neural Development Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK.

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http://dx.doi.org/10.1093/hmg/ddg014DOI Listing
January 2003

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

Mol Cell Neurosci 2003 Jan;22(1):62-74

Neural Development Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK.

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http://dx.doi.org/10.1016/s1044-7431(02)00021-0DOI Listing
January 2003

DDC and COBL, flanking the imprinted GRB10 gene on 7p12, are biallelically expressed.

Mamm Genome 2002 Dec;13(12):686-91

Department of Fetal and Maternal Medicine, Institute of Reproductive and Developmental Biology, Imperial College, Faculty of Medicine, Hammersmith Campus, Du Cane Road, London W12 0NN, UK.

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http://dx.doi.org/10.1007/s00335-002-3028-zDOI Listing
December 2002

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

Hum Mol Genet 2002 Oct;11(22):2793-804

Institute of Reproductive and Developmental Biology, Imperial College Faculty of Medicine-Hammersmith Campus, Du Cane Road, London W12 ONN, UK.

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http://dx.doi.org/10.1093/hmg/11.22.2793DOI Listing
October 2002

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

Hum Genet 2002 Oct 16;111(4-5):376-87. Epub 2002 Aug 16.

Institute of Reproductive and Developmental Biology, Imperial College School of Medicine, Hammersmith Campus, Du Cane Road, London, W12 0NN, UK.

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http://dx.doi.org/10.1007/s00439-002-0777-4DOI Listing
October 2002

Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32.

Hum Mol Genet 2002 Jul;11(15):1743-56

Department of Genetics, The Hospital for Sick Children, and Department of Molecular and Medical Genetics, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1093/hmg/11.15.1743DOI Listing
July 2002

SNPs in the CpG island of NAP1L2: a possible link between DNA methylation and neural tube defects?

Am J Med Genet 2002 Jul;110(3):208-14

Unité Génétique Moléculaire Murine, CNRS 1947, Institut Pasteur, Paris, France.

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http://dx.doi.org/10.1002/ajmg.10453DOI Listing
July 2002

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

Genomics 2002 May;79(5):663-70

Department of Maternal and Fetal Medicine, Institute of Reproductive and Developmental Biology, Faculty of Medicine, Imperial College, Hammersmith Campus, London, W12 0NN, UK.

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http://dx.doi.org/10.1006/geno.2002.6757DOI Listing
May 2002