Lista de obras -

A genome-wide association study identifies candidate loci associated to syringomyelia secondary to Chiari-like malformation in Cavalier King Charles Spaniels.

artículo científico publicado en 2018

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

artículo científico publicado el 18 de febrero de 2011

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

artículo científico publicado en 2017

FZD6is a novel gene for human neural tube defects ⬇️

artículo científico publicado el 28 de noviembre de 2011

Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment

artículo científico publicado en 2016

Genetic Testing in a Cohort of Complex Esophageal Atresia

artículo científico publicado en 2017

Genetic analysis of disheveled 2 and disheveled 3 in human neural tube defects

artículo científico publicado en 2012

Genetic basis of neural tube defects

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

artículo científico publicado en 2017

Human neural tube defects: Genetic causes and prevention ⬇️

artículo científico publicado el 14 de junio de 2011

Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome

artículo científico publicado en 2012

Identification and characterization of a novel chemically induced allele at the planar cell polarity gene Vangl2.

artículo científico publicado en 2017

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

artículo científico publicado en 2011

Loss of Membrane Targeting of Vangl Proteins Causes Neural Tube Defects ⬇️

artículo científico publicado el 13 de enero de 2011

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

artículo científico publicado en 2015

Mutations in VANGL1 associated with neural-tube defects

artículo científico publicado en 2007

Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay

artículo científico publicado en 2015

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

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

artículo científico publicado en 2013

Novel mutations in VANGL1 in neural tube defects

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Rare deleterious variants in GRHL3 are associated with human spina bifida

artículo científico publicado en 2017

Rare missense variants in DVL1, one of the human counterparts of the Drosophila dishevelled gene, do not confer increased risk for neural tube defects.

artículo científico publicado en 2013

Rescue of the neural tube defect of loop-tail mice by a BAC clone containing the Ltap gene.

artículo científico publicado en 2003

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

scientific article published on 04 October 2019

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

artículo científico publicado en 2017

VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish.

artículo científico publicado en 2010

Whole exome sequencing identifies novel predisposing genes in neural tube defects

artículo científico publicado en 2018

Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis

artículo científico publicado en 2022

Lista de obras de

A genome-wide association study identifies candidate loci associated to syringomyelia secondary to Chiari-like malformation in Cavalier King Charles Spaniels.

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

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

FZD6is a novel gene for human neural tube defects ⬇️

Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment

Genetic Testing in a Cohort of Complex Esophageal Atresia

Genetic analysis of disheveled 2 and disheveled 3 in human neural tube defects

Genetic basis of neural tube defects

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

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

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Human neural tube defects: Genetic causes and prevention ⬇️

Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome

Identification and characterization of a novel chemically induced allele at the planar cell polarity gene Vangl2.

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

Loss of Membrane Targeting of Vangl Proteins Causes Neural Tube Defects ⬇️

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

Mutations in VANGL1 associated with neural-tube defects

Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay

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

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

Novel mutations in VANGL1 in neural tube defects

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

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

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

Rare deleterious variants in GRHL3 are associated with human spina bifida

Rare missense variants in DVL1, one of the human counterparts of the Drosophila dishevelled gene, do not confer increased risk for neural tube defects.

Rescue of the neural tube defect of loop-tail mice by a BAC clone containing the Ltap gene.

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

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

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

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

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

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

VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish.

Whole exome sequencing identifies novel predisposing genes in neural tube defects

Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis