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Genetics of human neural tube defectsTBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repressionMutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisisMutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndromeThe imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndromeThe role and interaction of imprinted genes in human fetal growthMutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouseDisruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouseElevated placental expression of the imprinted PHLDA2 gene is associated with low birth weightSevere neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specificationCloning and characterization of Igsf9 in mouse and human: a new member of the immunoglobulin superfamily expressed in the developing nervous system.Is LMNB1 a susceptibility gene for neural tube defects in humans?High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta.Molecular cloning and characterization of a highly conserved human 67-kDa laminin receptor pseudogene mapping to Xq21.3.Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene.A new biological and clinical resource for research into pregnancy complications: The Baby Bio BankNeural tube defects: recent advances, unsolved questions, and controversies.Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effectsEvaluation of allelic expression of imprinted genes in adult human blood.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).The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndromeCraniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice.Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.Fat dads must not be blamed for their children's health problemsThe effects of culture on genomic imprinting profiles in human embryonic and fetal mesenchymal stem cells.Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts.Polymorphic dinucleotide repeat at the DXS3 locusMaternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weightGenome-wide methylation analysis in Silver-Russell syndrome patientsGermline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development.Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and MiceTrans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse modelsImprinted genes and their role in human fetal growth.Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.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.Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRASThe Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice.
P50
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P50
description
hulumtues
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researcher
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wetenschapper
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հետազոտող
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name
Philip Stanier
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Philip Stanier
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Philip Stanier
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Philip Stanier
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Philip Stanier
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type
label
Philip Stanier
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Philip Stanier
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Philip Stanier
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Philip Stanier
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Philip Stanier
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Philip Stanier
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Philip Stanier
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Philip Stanier
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Philip Stanier
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Philip Stanier
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P1053
C-1593-2008
P106
P1153
7006454348
P21
P31
P496
0000-0001-9340-8117