Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Jeanne Amiel, Béatrice Laudier, Tania Attié‐Bitach, +11

Nature Genetics

Genetic DisorderGeneticsInherited Metabolic DiseaseHypoxia (Medicine)Pediatrics +6

Germline Mutations of the Paired–Like Homeobox 2B (PHOX2B) Gene in Neuroblastoma

Delphine Trochet, Franck Bourdeaut, Isabelle Janoueix‐Lerosey, +10

The American Journal of Human Genetics

Neuro-oncologySomatic VariantGliomaMedicinePathology +6

A human mutation in Phox2b causes lack of CO ₂ chemosensitivity, fatal central apnea, and specific loss of parafacial neurons

Véronique Dubreuil, Nélina Ramanantsoa, Delphine Trochet, +5

Proceedings of the National Academy of Sciences

Brain DevelopmentGlutamatergic NeuronsCongenital Heart AnomalyFatal Central ApneaRedox Biology +21

PHOX2B Genotype Allows for Prediction of Tumor Risk in Congenital Central Hypoventilation Syndrome

Delphine Trochet, Louise M. O’Brien, David Gozal, +10

The American Journal of Human Genetics

Phox2b Genotype AllowsGenetic DisorderGeneticsInherited Metabolic DiseaseHematology +9

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction

Delphine Trochet, Seok Jong Hong, Jinkyu Lim, +6

Human Molecular Genetics

Molecular BiologyAlanine Expansion MutationsDisease Gene IdentificationOxidative StressMolecular Pharmacology +14

Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression

Mayumi Nagashimada, Hiroshi Ohta, Chong Li, +7

Journal of Clinical Investigation

Brain DevelopmentGeneticsCongenital LossDisease Gene IdentificationSympathetic Ganglia +22

<i>PHOX2B</i> Germline and Somatic Mutations in Late-Onset Central Hypoventilation Syndrome

Delphine Trochet, Loïc de Pontual, Christian Straus, +7

American Journal of Respiratory and Critical Care Medicine

Epistatic interactions with a common hypomorphicRET allele in syndromic Hirschsprung disease

Loïc de Pontual, Anna Pelet, Mathieu Clément‐Ziza, +14

Human Mutation

Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction Syndrome

Loïc de Pontual, Delphine Trochet, Sophie Caillat‐Zucman, +16

Pediatric Research

Clinical DisordersSleepAutonomic SystemPhysiologyHypoxia (Medicine) +6

Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis

Aurore Carré, Mireille Castanet, Sylvia Sura‐Trueba, +8

Human Genetics

Developmental BiologyFoxe1 Alanine StretchGenetic DisorderGeneticsGenetic Susceptibility +6