Lista de obras -

A case of mild CHARGE syndrome associated with a splice site mutation in CHD7.

artículo científico publicado en 2016

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

artículo científico publicado en 2016

A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss

artículo científico publicado en 2008

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

artículo científico publicado en 2016

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

artículo científico publicado en 2016

Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene

artículo científico publicado en 2004

Cochlear implant and inner ear malformation. Proposal for an hyperosmolar therapy at surgery.

artículo científico publicado en 2008

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

artículo científico publicado en 2011

Congenital cytomegalovirus is the second most frequent cause of bilateral hearing loss in young French children

artículo científico publicado en 2012

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4

artículo científico publicado en 2007

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

artículo científico publicado en 2014

Discovery of a large deletion of KAL1 in 2 deaf brothers

artículo científico publicado en 2013

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

artículo científico publicado en 2012

EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state

scientific journal article

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

artículo científico publicado en 2012

Evaluation of cytomegalovirus (CMV) DNA quantification in dried blood spots: retrospective study of CMV congenital infection

artículo científico publicado en 2007

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases

artículo científico publicado en 2017

Facial, lingual, and pharyngeal electromyography in infants with Pierre Robin sequence ⬇️

artículo científico publicado el 7 de abril de 2011

Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS

artículo científico publicado en 2020

Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder

artículo científico publicado en 2010

GJB2 mutations and degree of hearing loss: a multicenter study

artículo científico publicado en 2005

Genetic hearing loss

artículo científico publicado en 2017

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

artículo científico publicado en 2011

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

artículo científico publicado en 2013

Lactate and anion gap in asphyxiated neonates ⬇️

artículo científico publicado el 1 de enero de 1998

Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness

artículo científico publicado en 2013

Molecular diagnosis of genetic deafness ⬇️

artículo científico publicado el 1 de mayo de 2011

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

artículo científico publicado en 2011

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

artículo científico publicado en 2017

Mycophenolate mofetil as a treatment of steroid dependent Cogan's syndrome in childhood

artículo científico publicado en 2009

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

artículo científico publicado en 2014

Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?

artículo científico publicado en 2017

Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss

artículo científico publicado en 2012

Pediatric cochlear implantation in residual hearing candidates.

artículo científico publicado en 2015

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

artículo científico publicado en 2008

Prenatal diagnosis of cleft lip with or without cleft palate: retrospective study and review ⬇️

artículo científico publicado el 25 de septiembre de 2012

Prenatal evaluation of the middle ear and diagnosis of middle ear hypoplasia using MRI ⬇️

artículo científico publicado el 8 de diciembre de 2010

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study

artículo científico publicado en 2003

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

artículo científico publicado en 2013

Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: A very mild phenotype ⬇️

artículo científico publicado el 23 de agosto de 2011

Review and update of mutations causing Waardenburg syndrome.

artículo científico publicado en 2010

Role of interleukin-1β in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy ⬇️

artículo científico publicado el 1 de julio de 2011

Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2.

artículo científico publicado en 2012

Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct

artículo científico publicado en 2010

Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!

artículo científico publicado en 2010

The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells

artículo científico publicado en 2014

The calcineurin inhibitor tacrolimus as a new therapy in severe cherubism.

artículo científico publicado en 2015

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

artículo científico publicado en 2015

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

artículo científico publicado en 2015

Unilateral Sensorineural Hearing Loss: Medical Context and Etiology

artículo científico publicado en 2017

Usher syndrome type 1: early detection of electroretinographic changes

artículo científico publicado en 2008

Lista de obras de

A case of mild CHARGE syndrome associated with a splice site mutation in CHD7.

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene

Cochlear implant and inner ear malformation. Proposal for an hyperosmolar therapy at surgery.

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Congenital cytomegalovirus is the second most frequent cause of bilateral hearing loss in young French children

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

Discovery of a large deletion of KAL1 in 2 deaf brothers

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

Evaluation of cytomegalovirus (CMV) DNA quantification in dried blood spots: retrospective study of CMV congenital infection

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases

Facial, lingual, and pharyngeal electromyography in infants with Pierre Robin sequence ⬇️

Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS

Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder

GJB2 mutations and degree of hearing loss: a multicenter study

Genetic hearing loss

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

Lactate and anion gap in asphyxiated neonates ⬇️

Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness

Molecular diagnosis of genetic deafness ⬇️

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Mycophenolate mofetil as a treatment of steroid dependent Cogan's syndrome in childhood

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?

Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss

Pediatric cochlear implantation in residual hearing candidates.

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

Prenatal diagnosis of cleft lip with or without cleft palate: retrospective study and review ⬇️

Prenatal evaluation of the middle ear and diagnosis of middle ear hypoplasia using MRI ⬇️

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: A very mild phenotype ⬇️

Review and update of mutations causing Waardenburg syndrome.

Role of interleukin-1β in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy ⬇️

Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2.

Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct

Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!

The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells

The calcineurin inhibitor tacrolimus as a new therapy in severe cherubism.

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

Unilateral Sensorineural Hearing Loss: Medical Context and Etiology

Usher syndrome type 1: early detection of electroretinographic changes