A5023284950- Cancer Genomics and Diagnostics
- Renal cell carcinoma treatment
- Lung Cancer Treatments and Mutations
- Sexual Differentiation and Disorders
- Chemical Reactions and Isotopes
- Cancer and Skin Lesions
- Neuroblastoma Research and Treatments
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Genetic and Kidney Cyst Diseases
- Hepatocellular Carcinoma Treatment and Prognosis
- Neuroendocrine Tumor Research Advances
- Genomic variations and chromosomal abnormalities
- Tuberous Sclerosis Complex Research
- Renal and related cancers
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- Hedgehog Signaling Pathway Studies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Reproductive Biology and Fertility
- Pancreatic function and diabetes
Assistance Publique – Hôpitaux de Paris
2019-2025
Université Paris Cité
2024-2025
Inserm
2019-2025
Centre de Recherche sur l'Inflammation
2025
Centre Hospitalier Universitaire de Nice
2023
Hôpital Pasteur
2023
Université Côte d'Azur
2023
Hôpital d'Enfants
2019
Maladies génétiques d’expression pédiatrique
2019
Sorbonne Université
2019
This short letter shows the limited diagnostic utility of PRDM10 screening in patients with a clinical suspicion BHD syndrome. In cohort 313 syndrome and no FLCN mutations, none carry pathogenic variation.
Tetragametic chimeras are due to the fusion of 2 different zygotes after fertilization. When occurring between embryos chromosomal sex, phenotype ranges from fertile individuals infertile patients and even with variations in sex development. Here, we report 3 new cases XX/XY chimeras, one a young boy carrying an abnormal gonad which turned out be ovary phenotypically normal men, whom had been diagnosed previously as XX-<i>SRY</i> negative male. These highlight importance...
Abstract Context Von Hippel-Lindau disease (VHL) is a rare, autosomal-dominant hereditary cancer-predisposition syndrome caused by germline pathogenic variants (PVs) in the VHL gene. It associated with high penetrance of benign and malignant vascular tumors multiple organs, including pancreatic neuroendocrine (PanNETs), whose long-term natural history ill-known. Objective The aim this study was to identify prognostic factors VHL-related PanNETs, notably role genotype-phenotype correlations....
Abstract Background Gorlin syndrome (GS) is an autosomal dominant disorder characterized by a predisposition to basal cell carcinoma and developmental defects. It caused pathogenic variants in the PTCH1 or SUFU genes. Objectives To ascertain effectiveness of molecular screening cohort patients with suspicion GS describe patients’ clinical genetic characteristics. Methods In total, 110 were studied. The seen at department Bichat University Hospital for screening. paraclinical data collected...
Introduction Gene copy number variations have theranostic impact and require reliable methods for their identification. We aimed to evaluate the reliability of combined next-generation sequencing (NGS) digital droplet PCR (ddPCR) method gene amplification evaluation. Methods conducted a retrospective multicentric observational study. MET/ERBB2 amplifications were assessed in patients with lung or colorectal carcinoma (cohort A), from 2016 2020, by fluorescence situ hybridization...