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Loss-of-function de novo mutations play an important role in severe human neural tube defects

Journal of medical genetics, 2015-07, Vol.52 (7), p.493-497

2015

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Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway

Human molecular genetics, 2014-04, Vol.23 (7), p.1687-1699

2014

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Genetic Analysis of Disheveled 2 and Disheveled 3 in Human Neural Tube Defects

Journal of molecular neuroscience, 2013-03, Vol.49 (3), p.582-588

2013

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Human neural tube defects: Genetic causes and prevention

BioFactors (Oxford), 2011-07, Vol.37 (4), p.261-268

2011

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Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk

Journal of human genetics, 2006-02, Vol.51 (2), p.98-103

2006

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Whole exome sequencing identifies novel predisposing genes in neural tube defects

Molecular genetics & genomic medicine, 2019-01, Vol.7 (1), p.e00467-n/a

2019

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Hypoxia transcriptionally induces macrophage-inflammatory protein-3α/CCL-20 in primary human mononuclear phagocytes through nuclear factor (NF)-κB

Journal of leukocyte biology, 2008-03, Vol.83 (3), p.648-662

2008

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Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population

Journal of human genetics, 2002-06, Vol.47 (6), p.319-324

2002

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FZD6 is a novel gene for human neural tube defects

Human mutation, 2012-02, Vol.33 (2), p.384-390

2012

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Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis

Birth defects research. A Clinical and molecular teratology, 2012-03, Vol.94 (3), p.176-181

2012

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Scribble1 plays an important role in the pathogenesis of neural tube defects through its mediating effect of Par-3 and Vangl1/2 localization

Human molecular genetics, 2017-06, Vol.26 (12), p.2307-2320

2017

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Gα13 Regulation of Proto-Dbl Signaling

Cell cycle (Georgetown, Tex.), 2007-08, Vol.6 (16), p.2058-2070

2007

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Role of the planar cell polarity gene Protein tyrosine kinase 7 in neural tube defects in humans

Birth defects research. A Clinical and molecular teratology, 2015-12, Vol.103 (12), p.1021-1027

2015

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Leiomyomatosis peritonealis disseminata in association with Currarino syndrome?

BMC cancer, 2006-05, Vol.6 (1), p.127-127, Article 127

2006

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Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development

European journal of human genetics : EJHG, 2017-08, Vol.25 (8), p.952-959

2017

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Mutations in VANGL1 Associated with Neural-Tube Defects

The New England journal of medicine, 2007-04, Vol.356 (14), p.1432-1437

2007

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Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans

Human molecular genetics, 2011-11, Vol.20 (22), p.4324-4333

2011

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Rare deleterious variants in GRHL3 are associated with human spina bifida

Human mutation, 2017-06, Vol.38 (6), p.716-724

2017

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Planar cell polarity gene mutations contribute to the etiology of human neural tube defects in our population

Birth defects research. A Clinical and molecular teratology, 2014-08, Vol.100 (8), p.633-641

2014

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Contribution of VANGL2 mutations to isolated neural tube defects

Clinical genetics, 2011-07, Vol.80 (1), p.76-82

2011

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Genetic studies of ANKRD6 as a molecular switch between Wnt signaling pathways in human neural tube defects

Birth defects research. A Clinical and molecular teratology, 2015-01, Vol.103 (1), p.20-26

2015

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Genetic Screening of Pediatric Cavernous Malformations

Journal of molecular neuroscience, 2016-10, Vol.60 (2), p.232-238

2016

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Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects

Human mutation, 2011-12, Vol.32 (12), p.1371-1375

2011

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Moyamoya vasculopathy shows a genetic mutational gradient decreasing from East to West

Journal of neurosurgical sciences, 2020-04, Vol.64 (2), p.165

2020

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Novel mutations in VANGL1 in neural tube defects

Human mutation, 2009-07, Vol.30 (7), p.E706-E715

2009

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Loss-of-function de novo mutations play an important role in severe human neural tube defects

Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway

Genetic Analysis of Disheveled 2 and Disheveled 3 in Human Neural Tube Defects

Human neural tube defects: Genetic causes and prevention

Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk

Whole exome sequencing identifies novel predisposing genes in neural tube defects

Hypoxia transcriptionally induces macrophage-inflammatory protein-3α/CCL-20 in primary human mononuclear phagocytes through nuclear factor (NF)-κB

Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population

FZD6 is a novel gene for human neural tube defects

Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis

Scribble1 plays an important role in the pathogenesis of neural tube defects through its mediating effect of Par-3 and Vangl1/2 localization

Gα13 Regulation of Proto-Dbl Signaling

Role of the planar cell polarity gene Protein tyrosine kinase 7 in neural tube defects in humans

Leiomyomatosis peritonealis disseminata in association with Currarino syndrome?

Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development

Mutations in VANGL1 Associated with Neural-Tube Defects

Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans

Rare deleterious variants in GRHL3 are associated with human spina bifida

Planar cell polarity gene mutations contribute to the etiology of human neural tube defects in our population

Contribution of VANGL2 mutations to isolated neural tube defects

Genetic studies of ANKRD6 as a molecular switch between Wnt signaling pathways in human neural tube defects

Genetic Screening of Pediatric Cavernous Malformations

Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects

Moyamoya vasculopathy shows a genetic mutational gradient decreasing from East to West

Novel mutations in VANGL1 in neural tube defects

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