List of works - Loic de Pontual

Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma

scientific article published on October 2008

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma

scientific article

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

scientific article

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability

scientific article

Clostridium difficile carriage in healthy infants in the community: a potential reservoir for pathogenic strains

scientific article

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

scientific article (publication date: April 2009)

miRNA, development and disease

scientific article published on January 2012

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

scholarly article

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

scientific journal article

Use of Procalcitonin Assays to Predict Serious Bacterial Infection in Young Febrile Infants

scientific article published on 23 November 2015

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation

scientific article

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

scientific article

Germline gain-of-function mutations of ALK disrupt central nervous system development

scientific article published in March 2011

Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction Syndrome

A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant

scientific article published in 2012

Effectiveness of chest physiotherapy in infants hospitalized with acute bronchiolitis: a multicenter, randomized, controlled trial.

scientific article

Prevalence of anti-varicella-zoster virus antibodies in French infants under 15 months of age.

scientific article published on 28 January 2009

Cholinergic switch associated with morphological differentiation in neuroblastoma

scientific article published in December 2009

Autism spectrum disorders in babies born to mothers with antiphospholipid syndrome.

scientific article published on 30 July 2013

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

scientific journal article

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

scientific article

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma

scientific article published on 31 August 2007

Tuberculosis in adolescents: A French retrospective study of 52 cases.

scientific article published in October 2006

Anti-TNF-α therapy may cause neonatal neutropenia.

scientific article published on October 2014

Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).

scientific article published in May 2008

Epidemiology of idiopathic nephrotic syndrome in children: endemic or epidemic?

scientific article

Polyalanine expansions might not result from unequal crossing-over

article by Delphine Trochet et al published 2007 in Human Mutation

Distribution of serum measles-neutralizing antibodies according to age in women of childbearing age in France in 2005-2006: impact of routine immunization

scientific article published on 01 August 2007

Effect of Nebulized Hypertonic Saline Treatment in Emergency Departments on the Hospitalization Rate for Acute Bronchiolitis: A Randomized Clinical Trial.

scientific article published on 05 June 2017

Mosaic Tetrasomy 9p: A Mendelian Condition Associated With Pediatric-Onset Overlap Myositis.

scientific article published on August 2015

Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion

scientific article published on 24 March 2014

Sudden death caused by Staphylococcus aureus carrying Panton-Valentine leukocidin gene in a young girl

scientific article published on November 4, 2009

Emergency department diagnosis and management of skin diseases with real-time teledermatologic expertise

scientific article published on 01 July 2014

Exclusion ofRNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse)

article

Management of acute diarrhea in children

scientific article published on 21 December 2012

The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function

scientific article

New recommendations about vaccination against meningocci C

scientific article published on 01 December 2010

Clinical quiz. Loin pain haematuria syndrome

scientific article published on 01 March 2002

Children with chronic health disorders travelling to the tropics: a prospective observational study.

scientific article

Performing a preliminary hazard analysis applied to administration of injectable drugs to infants

scientific article

Chlorhexidine-induced IgE-mediated allergy in a 6-year-old child

scientific article published on 29 December 2016

Do All Children Who Present With a Complex Febrile Seizure Need a Lumbar Puncture?

scientific article

Immunization of the preterm infant

scientific article published on 01 March 2012

Aregenerative anemia and erythrocytes hemighosts: a case report

scientific article published on July 1, 2011

Reply to Stoesser et al

scientific article published on 26 February 2013

List of works by Loic de Pontual

Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability

Clostridium difficile carriage in healthy infants in the community: a potential reservoir for pathogenic strains

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

miRNA, development and disease

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

Use of Procalcitonin Assays to Predict Serious Bacterial Infection in Young Febrile Infants

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation

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

Germline gain-of-function mutations of ALK disrupt central nervous system development

Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction Syndrome

A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant

Effectiveness of chest physiotherapy in infants hospitalized with acute bronchiolitis: a multicenter, randomized, controlled trial.

Prevalence of anti-varicella-zoster virus antibodies in French infants under 15 months of age.

Cholinergic switch associated with morphological differentiation in neuroblastoma

Autism spectrum disorders in babies born to mothers with antiphospholipid syndrome.

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma

Tuberculosis in adolescents: A French retrospective study of 52 cases.

Anti-TNF-α therapy may cause neonatal neutropenia.

Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).

Epidemiology of idiopathic nephrotic syndrome in children: endemic or epidemic?

Polyalanine expansions might not result from unequal crossing-over

Distribution of serum measles-neutralizing antibodies according to age in women of childbearing age in France in 2005-2006: impact of routine immunization

Effect of Nebulized Hypertonic Saline Treatment in Emergency Departments on the Hospitalization Rate for Acute Bronchiolitis: A Randomized Clinical Trial.

Mosaic Tetrasomy 9p: A Mendelian Condition Associated With Pediatric-Onset Overlap Myositis.

Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion

Sudden death caused by Staphylococcus aureus carrying Panton-Valentine leukocidin gene in a young girl

Emergency department diagnosis and management of skin diseases with real-time teledermatologic expertise

Exclusion ofRNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse)

Management of acute diarrhea in children

The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function

New recommendations about vaccination against meningocci C

Clinical quiz. Loin pain haematuria syndrome

Children with chronic health disorders travelling to the tropics: a prospective observational study.

Performing a preliminary hazard analysis applied to administration of injectable drugs to infants

Chlorhexidine-induced IgE-mediated allergy in a 6-year-old child

Do All Children Who Present With a Complex Febrile Seizure Need a Lumbar Puncture?

Immunization of the preterm infant

Aregenerative anemia and erythrocytes hemighosts: a case report

Reply to Stoesser et al