A5065160136- Neurofibromatosis and Schwannoma Cases
- Sarcoma Diagnosis and Treatment
- Chromatin Remodeling and Cancer
- Genomics and Rare Diseases
- Soft tissue tumor case studies
- Neuroblastoma Research and Treatments
- RNA modifications and cancer
- Bone and Dental Protein Studies
- dental development and anomalies
- Oral microbiology and periodontitis research
- Genomic variations and chromosomal abnormalities
- RNA Research and Splicing
- Genetic Syndromes and Imprinting
- Magnesium in Health and Disease
- Cancer-related Molecular Pathways
- Genetics and Neurodevelopmental Disorders
- Genetic factors in colorectal cancer
- Bone health and osteoporosis research
- Immunodeficiency and Autoimmune Disorders
- Health Systems, Economic Evaluations, Quality of Life
- Metabolism, Diabetes, and Cancer
- Clinical Laboratory Practices and Quality Control
- Protein Tyrosine Phosphatases
- Hippo pathway signaling and YAP/TAZ
- Meningioma and schwannoma management
Hôpital Cochin
2019-2025
Assistance Publique – Hôpitaux de Paris
2017-2025
Institut Cochin
2019-2025
Université Paris Cité
2019-2025
Inserm
2019-2025
Centre National de la Recherche Scientifique
2021-2025
Laboratoire d’immunologie intégrative du cancer
2021
Sorbonne Paris Cité
2021
Hôpital Européen Georges-Pompidou
2020
Hôpital Européen
2020
Modeling splicing is essential for tackling the challenge of variant interpretation as each nucleotide variation can be pathogenic by affecting pre-mRNA via disruption/creation motifs such 5′/3′ splice sites, branch or regulatory elements. Unfortunately, most in silico tools focus on a specific type motif, which why we developed Splicing Prediction Pipeline (SPiP) to perform, one single bioinformatic analysis based machine learning approach, comprehensive assessment effect different motifs....
Complete deletion of the
Enthesopathies are the determinant of a poor quality life in adults with X-linked hypophosphatemia (XLH).To describe prevalence patients enthesopathies and to identify risk factors having enthesopathies.Retrospective study French Reference Center for Rare Diseases Calcium Phosphate Metabolism between June 2011 December 2020. Adult XLH full body X-rays performed using EOS® low-dose radiation system clinical data collected from medical records. The main outcome measures were demographics, PHEX...
In this issue of the European Journal Endocrinology, Lin et al. report a de novo heterozygous nonsense variant in PHEX gene an X-linked hypophosphatemic rickets patient. The authors described germline mosaicism sperm unaffected father proband, providing opportunity to discuss concept isolated mosaicism. addition genetic information passed on from generation generation, each us is born with small number novel changes -de mutations- that occurred either prezygotically or postzygotically. When...
Two patients presented simultaneously to our hospital with distinct clinical features associated the presence of anti-MDA5 antibodies: first one was admitted for a skin rash resembling toxic epidermal necrosis (Lyell syndrome) and second pulmonary manifestations attributed diffuse fibrosing interstitial pneumonitis on chest CT-scan. In addition lesions involving 40% body surface area, patient developed rapid respiratory distress justifying initiation systemic immunosuppressive treatment....
Neurofibromatosis type 1 (NF1) is characterized by the highly variable and unpredictable development of benign peripheral nerve sheath tumours: cutaneous (cNFs), subcutaneous (scNFs) plexiform (pNFs) neurofibromas.
Abstract Individuals with the three base pair deletion NM_000267.3(NF1):c.2970_2972del p.(Met992del) have been recognised to present a milder neurofibromatosis type 1 (NF1) phenotype characterised by café-au-lait macules (CALs) and intertriginous freckling, as well lack of cutaneous, subcutaneous plexiform neurofibromas other NF1-associated complications. Examining large cohorts patients over time this specific genotype is important confirm presentation associated risks variant across...
Modeling splicing is essential for tackling the challenge of variant interpretation as each nucleotide variation can be pathogenic by affecting pre-mRNA via disruption/creation motifs such 5’/3’ splice sites, branch sites or regulatory elements. Unfortunately, most in silico tools focus on a specific type motif, which why we developed Splicing Prediction Pipeline (SPiP) to perform, one single bioinformatic analysis based machine learning approach, comprehensive assessment effect different...
Neurofibromatosis type 1 (NF1) is a genetic disorder caused by loss-of-function variants in the tumor-suppressor NF1. About 4-11% of NF1 patients have locus complete deletion resulting from non-allelic homologous recombination between low copy repeats. Co-deleted genes probably account for more severe phenotype observed NF1-deleted patients. This genotype-phenotype correlation highlights need detailed molecular description. We designed digital droplet PCR (ddPCR) set along to delimitate...
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with complete penetrance but high variable expressivity. NF1 caused by loss-of-function mutations in the gene, a negative regulator of RAS-MAPK pathway. The gene has one highest mutation rates human disorders, which may explain outbreak independent de novo variants same family. Here, we report co-occurrence pathogenic and SPRED1 genes six families Legius syndrome, using next-generation sequencing. In five these families,...
Abstract About 5–10% of neurofibromatosis type 1 (NF1) patients exhibit large genomic germline deletions that remove the NF1 gene and its flanking regions. The most frequent deletion is 1.4 Mb, resulting from homologous recombination between two low copy repeats. This “type-1” associated with a severe clinical phenotype in patients, several phenotypic manifestations including learning disability, much earlier development cutaneous neurofibromas, an increased tumour risk, cardiovascular...
Abstract Context Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the tumor suppressor gene MEN1. The uncertainty of pathogenicity MEN1 variants complexifies selection patients likely to benefit from specific care. Objective MEN1-mutated should be offered tailored screening and genetic counseling. We present a patient with hyperparathyroidism for whom analysis identified variant uncertain significance (NM_130799.2): c.654G > T...
Abstract Amelogenesis imperfecta (AI) is a group of rare genetic conditions characterized by quantitative and/or qualitative tooth enamel alterations. AI can manifest as an isolated trait or part syndrome. Recently, five biallelic disease-causing variants in the RELT gene were identified 7 families with autosomal recessive amelogenesis (ARAI). encodes orphan receptor tumor necrosis factor (TNFR) superfamily expressed during development, unknown function. Here, we report one Brazilian and two...
Type 1 diabetes accounts for 5 to 10% of all cases. It appears most often during childhood or adolescence. We report the case a hypertensive overweight patient 79 years who consulted asthenia in context polyuria-polydipsia syndrome which blood glucose assay revealed mellitus associated with ketosis. Despite age, body mass index and history patient, type diagnosis should be considered this clinical presentation brutal symptomatic early. The imagery excluding pancreatic tumor positive research...
Two procedures for checking agreement between twin analyzers (Abbott Architect ci 8200) were tested in 23 blood and 7 urine parameters (10,160 paired results from 7,882 2,278 tests). protocols compared. In protocol 1, acceptance criterion is based on standard-deviation originated either French recommendations (Société française de biologie clinique) or within subject biological variation. 2, values of expanded uncertainty measurements calculated according to SH GTA 04. Percentages...