A5001544688- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Protein Tyrosine Phosphatases
- RNA modifications and cancer
- Hedgehog Signaling Pathway Studies
- Craniofacial Disorders and Treatments
- Connective tissue disorders research
- Genetic Syndromes and Imprinting
- Prenatal Screening and Diagnostics
- Congenital heart defects research
- Galectins and Cancer Biology
- Genetic and Kidney Cyst Diseases
- Congenital Ear and Nasal Anomalies
- Cleft Lip and Palate Research
- Fetal and Pediatric Neurological Disorders
- Chromosomal and Genetic Variations
- Congenital limb and hand anomalies
- Microtubule and mitosis dynamics
- Ubiquitin and proteasome pathways
- Neurogenetic and Muscular Disorders Research
- dental development and anomalies
- Tracheal and airway disorders
- Mitochondrial Function and Pathology
- RNA regulation and disease
Hôpital Robert-Debré
2016-2025
Assistance Publique – Hôpitaux de Paris
2015-2025
Inserm
2016-2025
Université Paris Cité
2016-2025
NeuroDiderot
2016-2025
ERN GUARD-Heart
2024
Délégation Paris 7
2014-2023
Université de Bourgogne
2023
Université de Reims Champagne-Ardenne
2023
Centre Hospitalier Universitaire de Reims
2023
“CHARGE association” is a well-known entity of unknown origin. It was originally delineated by Bryan Hall [1979] in 17 children with multiple congenital anomalies (MCA) including choanal atresia and, independently Hittner et al. 10 MCA patients coloboma, hence the eponymic Hall–Hittner syndrome which sometimes used for it Graham, 2001. Pagon [1981] coined “CHARGE,” an acronym summarizing five cardinal clinical features: ocular Coloboma, Heart defects any type, Atresia choanae, Retardation...
Restrictive dermopathy (RD), also called tight skin contracture syndrome (OMIM 275210), is a rare disorder mainly characterized by intrauterine growth retardation, and rigid with erosions, prominent superficial vasculature epidermal hyperkeratosis, facial features (small mouth, small pinched nose micrognathia), sparse/absent eyelashes eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures an early neonatal lethal course....
Neuronal ceroid lipofuscinoses (NCLs) comprise a heterogeneous group of metabolic storage diseases that present with the accumulation autofluorescent lipopigment, neurodegeneration and premature death. Nine genes have been thus far identified as cause different types NCL, ages at onset ranging from around birth to adult, although underlying etiology disease still remains elusive. We family typical NCL pathology in which we performed exome sequencing single homozygous mutation ATP13A2 fully...
Epigenetic dysregulation has emerged as a recurring mechanism in the etiology of neurodevelopmental disorders. Two such disorders, CHARGE and Kabuki syndromes, result from loss function mutations chromodomain helicase DNA-binding protein 7 (CHD7LOF) lysine (K) methyltransferase 2D (KMT2DLOF), respectively. Although these two syndromes are clinically distinct, there is significant phenotypic overlap. We therefore expected that epigenetically driven developmental pathways regulated by CHD7...
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder defined clinically by severe gastrointestinal dysmotility; cachexia; ptosis, ophthalmoparesis, or both; peripheral neuropathy; leukoencephalopathy; and mitochondrial abnormalities. The disease caused mutations in the thymidine phosphorylase (TP) gene. TP protein catalyzes phosphorolysis of to thymine deoxyribose 1-phosphate. We identified 21 probands (35 patients) who fulfilled our clinical...
Abstract Mutations in the PTEN gene are associated with a broad spectrum of disorders, including Cowden syndrome (CS), Bannayan–Riley–Ruvalcaba syndrome, Proteus and Lhermitte–Duclos disease. In addition, mutations have been described few patients autism disorders (ASDs) macrocephaly. this study, we screened for deletions 88 ASDs macrocephaly (defined as ≥2 SD above mean). Mutation analysis was performed by direct sequencing all exons flanking regions, well promoter region. Dosage carried...
Mutations in FOXL2, a forkhead transcription factor gene, have recently been shown to cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) types I and II, rare genetic disorder. In BPES type complex eyelid malformation is associated with premature ovarian failure (POF), whereas II the defect occurs as an isolated entity. this study, we describe identification of novel mutations FOXL2 gene families, sporadic patients, families where could not be established. 67% patients studied,...
Cardio-facio-cutaneous (CFC) syndrome, Noonan syndrome (NS), and Costello (CS) are clinically related developmental disorders that have been recently linked to mutations in the RAS/MEK/ERK signalling pathway. This study was a mutation analysis of KRAS, BRAF, MEK1 MEK2 genes total 130 patients (40 with clinical diagnosis CFC, 20 without HRAS from French family support group, 70 NS PTPN11 or SOS1 mutations). BRAF were found 14/40 (35%) CFC 8/20 (40%) HRAS-negative CS. KRAS 1/40 (2.5%) 2/20...
Generalised lipodystrophy of the Berardinelli-Seip type (BSCL) is a rare autosomal recessive human disorder with severe adverse metabolic consequences. A gene on chromosome 9 (<i>BSCL1</i>) has recently been identified, predominantly in African-American families. More recently, mutations previously undescribed unknown function (<i>BSCL2</i>) 11, termed <i>seipin</i>, have found to be responsible for this number European and Middle Eastern We studied genotype/phenotype relationships 70...
Baller-Gerold syndrome (BGS) is a rare autosomal recessive condition with radial aplasia/hypoplasia and craniosynostosis (OMIM 218600). Of >20 cases reported so far, few appear atypical have been reassigned to other nosologic entities, including Fanconi anaemia, Roberts SC phocomelia, Pfeiffer syndromes after demonstration of corresponding cytogenetic or molecular abnormalities. Clinical overlap between BGS, Rothmund-Thomson (RTS), RAPADILINO noticeable. Because patients subset RTS...