Lista de obras -

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

artículo científico publicado en 2020

A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta.

artículo científico publicado en 2019

A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome

artículo científico publicado en 2014

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

artículo científico publicado en 2016

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

artículo científico publicado en 2015

AnnotSV: an integrated tool for structural variations annotation

scientific article published in 2018

BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response

artículo científico publicado en 2012

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

artículo científico publicado en 2006

BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families

artículo científico publicado en 2005

Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort

artículo científico publicado en 2010

Bardet-Biedl syndrome: a unique family for a major gene (BBS10)

artículo científico publicado en 2006

Bardet–Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption

article published in 2011

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

artículo científico publicado en 2010

Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice

artículo científico publicado en 2015

Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

scholarly article published in Nature Genetics

Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.

artículo científico publicado en 2016

Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar

artículo científico publicado en 2016

Differential regulation of TIMP-1, -2, and -3 mRNA and protein expressions during mouse incisor development

artículo científico publicado en 2006

Erratum: Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

article

Erratum: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

scholarly article published in Nature Genetics

Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta

artículo científico publicado en 2017

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

artículo científico publicado en 2012

Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly

artículo científico publicado en 2012

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

artículo científico publicado en 2013

Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early

artículo científico publicado en 2017

Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects

artículo científico publicado en 2011

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

artículo científico publicado en 2008

Identification and Characterization of Known Biallelic Mutations in the () Gene in a Novel Family With Bardet-Biedl Syndrome

article

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

artículo científico publicado en 2007

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome

artículo científico publicado en 2016

Involvement of MET/TWIST/APC combination or the potential role of ossification factors in pediatric high-grade osteosarcoma oncogenesis

artículo científico publicado en 2007

Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.

artículo científico publicado en 2015

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes

artículo científico publicado en 2010

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy

artículo científico publicado en 2015

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

artículo científico publicado en 2015

Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

artículo científico

Pharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection ability

scientific journal article

Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

artículo científico publicado en 2006

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome

Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family

Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

artículo científico publicado en 2011

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

artículo científico publicado en 2012

Temporospatial gene expression and protein localization of matrix metalloproteinases and their inhibitors during mouse molar tooth development

scientific journal article

Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

article

Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

artículo científico publicado en 2009

VaRank: a simple and powerful tool for ranking genetic variants

artículo científico publicado en 2015

Lista de obras de

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta.

A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

AnnotSV: an integrated tool for structural variations annotation

BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families

Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort

Bardet-Biedl syndrome: a unique family for a major gene (BBS10)

Bardet–Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice

Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.

Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar

Differential regulation of TIMP-1, -2, and -3 mRNA and protein expressions during mouse incisor development

Erratum: Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

Erratum: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early

Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

Identification and Characterization of Known Biallelic Mutations in the () Gene in a Novel Family With Bardet-Biedl Syndrome

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome

Involvement of MET/TWIST/APC combination or the potential role of ossification factors in pediatric high-grade osteosarcoma oncogenesis

Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

Pharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection ability

Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome

Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family

Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

Temporospatial gene expression and protein localization of matrix metalloproteinases and their inhibitors during mouse molar tooth development

Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

VaRank: a simple and powerful tool for ranking genetic variants

Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140