Lista de obras - Philip Stanier - Dominio Público Uruguay

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

artículo científico publicado en 1987

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

Abnormal folate metabolism in foetuses affected by neural tube defects

artículo científico publicado en 2007

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

artículo científico publicado en 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.

artículo científico publicado en 2019

Antimony concentrations in equine serum

artículo científico publicado en 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.

artículo científico publicado en 2002

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

artículo científico publicado en 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.

artículo científico publicado en 2002

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

artículo científico publicado en 1991

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

artículo científico publicado en 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.

artículo científico publicado en 2001

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

artículo científico publicado el 1 de mayo de 2003

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

artículo científico publicado en 2002

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

artículo científico publicado en 2018

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

artículo científico publicado en 1988

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

artículo científico publicado en 1992

Development of the lip and palate: FGF signalling.

artículo científico

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

artículo científico publicado en 2017

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

artículo científico publicado en 2003

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

artículo científico publicado en 2000

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

artículo científico publicado en 2007

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

artículo científico publicado en 2018

Epigenetic signatures of Silver-Russell syndrome.

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado el 15 de abril de 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

artículo científico publicado en 1986

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Genetic Analyses in Small for Gestational Age Newborns.

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2004

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

artículo científico

Genetics of human neural tube defects

artículo científico publicado en 2009

Genetics of silver-russell syndrome

artículo científico publicado en 1998

Genome-wide methylation analysis in Silver-Russell syndrome patients

artículo científico publicado en 2015

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

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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.

artículo científico publicado en 2001

Identification and validation of loss of function variants in clinical contexts

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Imprinted genes and their role in human fetal growth.

artículo científico publicado en 2006

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

artículo científico publicado en 2003

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

artículo científico publicado en 2006

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.

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2002

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

artículo científico publicado en 2013

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

artículo científico publicado el 1 de julio de 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.

artículo científico publicado en 1985

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

artículo científico publicado en 1997

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

artículo científico publicado en 2012

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

artículo científico publicado en 2001

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

artículo científico publicado en 2018

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

artículo científico publicado en 1998

Molecular genetic etiology of twin reversed arterial perfusion sequence

artículo científico publicado en 1996

Molybdenum concentrations in equine serum

scientific article published on 01 November 1983

Mouse Models of Syndromic Craniosynostosis

artículo científico publicado en 2018

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

artículo científico publicado en 2013

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

artículo científico publicado en 2003

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

Neonatal buccal cell collection for DNA analysis.

artículo científico publicado en 2005

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

artículo científico publicado en 2013

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

artículo científico publicado en 1999

No evidence for mosaicism in Silver-Russell syndrome.

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 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).

artículo científico publicado en 1999

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

artículo científico publicado en 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

artículo científico publicado en 1995

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

artículo científico publicado en 2018

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

artículo científico publicado en 2007

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

artículo científico publicado en 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.

artículo científico publicado en 2000

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.

artículo científico publicado en 2018

Sumoylation in Craniofacial Disorders

artículo científico publicado en 2017

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

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

artículo científico publicado en 2001

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

artículo científico publicado en 2011

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

artículo científico publicado en 2003

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

artículo científico publicado en 2015

The speech geneFOXP2is not imprinted

article

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

artículo científico publicado en 2015

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

artículo científico publicado en 1987

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

artículo científico publicado en 2012

Lista de obras de Philip Stanier

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

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

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

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

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

Abnormal folate metabolism in foetuses affected by neural tube defects

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

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)

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

Antimony concentrations in equine serum

Autosomal-dominant ankyloglossia and tooth number anomalies

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

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

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

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

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

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

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.

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

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

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

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

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

Development of the lip and palate: FGF signalling.

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

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

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

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

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

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

Epigenetic signatures of Silver-Russell syndrome.

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

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

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

Evidence that insulin is imprinted in the human yolk sac

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

Expression of a common cellular phospholipase A2 by human intrauterine tissues

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

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

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

Genetic Analyses in Small for Gestational Age Newborns.

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

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

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

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

Genetics of human neural tube defects

Genetics of silver-russell syndrome

Genome-wide methylation analysis in Silver-Russell syndrome patients

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

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

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

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

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.

Identification and validation of loss of function variants in clinical contexts

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

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

Imprinted genes and their role in human fetal growth.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Molecular genetic etiology of twin reversed arterial perfusion sequence

Molybdenum concentrations in equine serum

Mouse Models of Syndromic Craniosynostosis

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

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

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