La recherche au sein du réseau SPRATON
Évaluation génétique, clinique et phénotypique fine des malades
(étude des caractéristiques, problématiques et devenir des malades)
Crédit : Filière de Santé Maladies Rares TETECOU
Terminé
-
Protocole CHARGE : Description moléculaire, phénotypique et neuropsychologique d'une cohorte nationale de sujets atteints du syndrome CHARGE
Terminé
-
ADOROBIN : Impact des troubles phonatoires et morphologiques faciaux sur la qualité de vie des adolescents atteints de séquence de Pierre Robin
Terminé
-
VISIOCHARGE : Analyse de la vision fonctionnelle des personnes avec un syndrome CHARGE
En cours
-
ORALQUEST : Investigation des difficultés alimentaires du jeune enfant : validation d'un questionnaire original
En cours
-
DYSROBIN : Implication de la dysfonction du tronc cérébral dans la physiopathogénie de la séquence de Pierre Robin
En cours
-
FACE.S-4-KIDS : Base de données de phénotypage profond par intelligence artificielle dans les anomalies craniofaciales au cours du développement
En cours
-
Identification moléculaire du syndrome CHARGE non muté dans CHD7
En cours
- Identification moléculaire des séquences de Pierre Robin associées
2024
Hennocq et coll.
- Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.
2024
Gyapay et coll.
- Gas exchange parameters for the prediction of obstructive sleep apnea in infants.
2024
Chen et coll.
- Hypoventilation in patients with Prader-Willi syndrome across the pediatric age.
2023
Fleurance et coll.
-
Developmental outcome of children with Robin sequence treated with the current Paris protocol.
2023
Ranza et coll.
-
Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia
2023
Drilleaud et coll.
- Surgical Repositioning of the Premaxilla: Incidence, Indications and Growth Study About a 189 Bilateral Cleft Lip ± Palate Population.
2023
Oeschsle et coll.
- Study protocol for a multicenter, multinational, observational registry of epidemiology, treatment and outcome of patients with Robin sequence.
2023
Lefèvre et coll.
- Peri- and neonatal factors influencing mortality and morbidity 2 years after esophageal atresia primary repair: a single center retrospective study.
2022
Savoldelli et coll.
- Impact of a new combined preoperative cleft assessment on dental implant success in patients with cleft and palate: a retrospective study.
2022
Clouzeau et coll.
- Weaning children from prolonged enteral nutrition: A position paper
2021
Thouvenin et coll.
-
Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients.
2021
Logjes et coll.
-
Objective measurements for upper airway obstruction in infants with Robin sequence: what are we measuring? A systematic review.
2021
Fauroux et coll.
- Paediatric long term continuous positive airway pressure and noninvasive ventilation in France: A cross-sectional study.
Sarogni et al. 2020
Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach
Kaur et al. 2023
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms
Panarotto et al. 2022
Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion
Olley et al. 2021
Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect
So et al. 2021
Prenatal phenotype of Kabuki syndrome: A case series and literature review
Jefri et al. 2022
Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase 2D (KMT2D/MLL4)
Bianchi et al. 2024
Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients
Margot et al. 2020
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
Jung et al. 2023
Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki syndrome
Kukkola et al. 2021
Pierre Robin sequence causes position-dependent obstructive sleep apnoea in infants
Santoro et al. 2021
Epidemiology of Pierre-Robin sequence in Europe: A population-based EUROCAT study
Swanson et al. 2024
The Incidence of Velopharyngeal Insufficiency in Stickler Syndrome
Santoro al. 2023
Survival, hospitalisation and surgery in children born with Pierre Robin sequence: a European population-based cohort study
Wiechers et al. 2023
Fetal Profile Markers for the Detection of Robin Sequence in Fetuses with Retrognathia
Ulhaq et al. 2023
A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity
Jefri et al. 2022
Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase 2D (KMT2D/MLL4)
Jefri et al. 2022
Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase 2D (KMT2D/MLL4)
Jefri et al. 2022
Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase 2D (KMT2D/MLL4)
