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One or more keywords matched the following items that are connected to Stanier, Philippe
Item TypeName
Academic Article Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse.
Concept Germ-Line Mutation
Concept Mutation
Concept Point Mutation
Concept Mutation, Missense
Concept Loss of Function Mutation
Academic Article Investigation of SUMO pathway genes in the etiology of nonsyndromic cleft lip with or without cleft palate.
Academic Article Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans.
Academic Article Spina bifida-predisposing heterozygous mutations in Planar Cell Polarity genes and Zic2 reduce bone mass in young mice.
Academic Article Is LMNB1 a susceptibility gene for neural tube defects in humans?
Academic Article Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse model.
Academic Article TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression.
Academic Article Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.
Academic Article Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
Academic Article Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
Academic Article Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis.
Academic Article Overexpression of Fgfr2c causes craniofacial bone hypoplasia and ameliorates craniosynostosis in the Crouzon mouse.
Academic Article Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.
Academic Article Neural tube defects: recent advances, unsolved questions, and controversies.
Academic Article Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development.
Academic Article Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.
Academic Article Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.
Academic Article The emerging role of epigenetic mechanisms in the etiology of neural tube defects.
Academic Article Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes.
Academic Article Development of the lip and palate: FGF signalling.
Academic Article Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
Academic Article Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
Academic Article Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.
Academic Article Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice.
Academic Article Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice.
Academic Article SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.
Academic Article Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.
Academic Article Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.
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  • Mutation