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Pituitary stalk interruption syndrome is characterized by genetic heterogeneity

PloS one, 2020-12, Vol.15 (12), p.e0242358-e0242358

2020

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Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients

PloS one, 2020-09, Vol.15 (9), p.e0239083

2020

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Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects

Cells (Basel, Switzerland), 2019-10, Vol.8 (10), p.1198

2019

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Heterogenous Distribution of MTHFR Gene Variants among Mestizos and Diverse Amerindian Groups from Mexico

PloS one, 2016-09, Vol.11 (9), p.e0163248-e0163248

2016

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Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

Genetics in medicine, 2018-07, Vol.20 (7), p.745-753

2018

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Paternal age and offspring congenital heart defects: a national cohort study

PloS one, 2015-03, Vol.10 (3), p.e0121030-e0121030

2015

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A PTK7/Ror2 Co-Receptor Complex Affects Xenopus Neural Crest Migration

PloS one, 2015-12, Vol.10 (12), p.e0145169-e0145169

2015

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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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Use of Morphometric Mapping to Characterise Symptomatic Chiari-Like Malformation, Secondary Syringomyelia and Associated Brachycephaly in the Cavalier King Charles Spaniel

PloS one, 2017-01, Vol.12 (1), p.e0170315-e0170315

2017

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Xenopus Pkdcc1 and Pkdcc2 Are Two New Tyrosine Kinases Involved in the Regulation of JNK Dependent Wnt/PCP Signaling Pathway

PloS one, 2015-08, Vol.10 (8), p.e0135504-e0135504

2015

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Quantitative trait loci (QTL) study identifies novel genomic regions associated to Chiari-like malformation in Griffon Bruxellois dogs

PloS one, 2014-04, Vol.9 (4), p.e89816-e89816

2014

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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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Orally administered melatonin prevents lipopolysaccharide-induced neural tube defects in mice

PloS one, 2014-11, Vol.9 (11), p.e113763

2014

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Genetic Basis of Neural Tube Defects

Seminars in pediatric neurology, 2009-09, Vol.16 (3), p.101-110

2009

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Loss of Membrane Targeting of Vangl Proteins Causes Neural Tube Defects

Biochemistry (Easton), 2011-02, Vol.50 (5), p.795-804

2011

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The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia

PLoS genetics, 2014-05, Vol.10 (5), p.e1004311-e1004311

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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Quantitative analysis of Chiari-like malformation and syringomyelia in the Griffon Bruxellois dog

PloS one, 2014-02, Vol.9 (2), p.e88120-e88120

2014

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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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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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Connexin46 Mutations in Autosomal Dominant Congenital Cataract

American journal of human genetics, 1999-05, Vol.64 (5), p.1357-1364

1999

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A novel hypomorphic Looptail allele at the planar cell polarity Vangl2 gene

Developmental dynamics, 2011-04, Vol.240 (4), p.839-849

2011

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Impact of assisted reproduction, infertility, sex and paternal factors on the placental DNA methylome

Human molecular genetics, 2019-02, Vol.28 (3), p.372-385

2019

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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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Pituitary stalk interruption syndrome is characterized by genetic heterogeneity

Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients

Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects

Heterogenous Distribution of MTHFR Gene Variants among Mestizos and Diverse Amerindian Groups from Mexico

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

Paternal age and offspring congenital heart defects: a national cohort study

A PTK7/Ror2 Co-Receptor Complex Affects Xenopus Neural Crest Migration

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

Use of Morphometric Mapping to Characterise Symptomatic Chiari-Like Malformation, Secondary Syringomyelia and Associated Brachycephaly in the Cavalier King Charles Spaniel

Xenopus Pkdcc1 and Pkdcc2 Are Two New Tyrosine Kinases Involved in the Regulation of JNK Dependent Wnt/PCP Signaling Pathway

Quantitative trait loci (QTL) study identifies novel genomic regions associated to Chiari-like malformation in Griffon Bruxellois dogs

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

Orally administered melatonin prevents lipopolysaccharide-induced neural tube defects in mice

Genetic Basis of Neural Tube Defects

Loss of Membrane Targeting of Vangl Proteins Causes Neural Tube Defects

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia

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

Quantitative analysis of Chiari-like malformation and syringomyelia in the Griffon Bruxellois dog

Human neural tube defects: Genetic causes and prevention

Whole exome sequencing identifies novel predisposing genes in neural tube defects

Connexin46 Mutations in Autosomal Dominant Congenital Cataract

A novel hypomorphic Looptail allele at the planar cell polarity Vangl2 gene

Impact of assisted reproduction, infertility, sex and paternal factors on the placental DNA methylome

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

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