73 results on '"Boddaert, Nathalie"'
Search Results
2. CNS erythroblastic sarcoma: a potential emerging pediatric tumor type characterized by NFIA::RUNX1T1/3 fusions
3. A new subtype of diffuse midline glioma, H3 K27 and BRAF/FGFR1 co-altered: a clinico-radiological and histomolecular characterisation
4. Imaging features to distinguish posterior fossa ependymoma subgroups
5. Spectrum of neuroradiological manifestations in primary hemophagocytic lymphohistiocytosis: a comparative study of EBV-induced versus non-EBV-induced forms in 75 genetically confirmed pediatric cases
6. JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study
7. A sellar presentation of a WNT-activated embryonal tumor: further evidence of an ectopic medulloblastoma
8. Reliability of fast-spin echo T2-weighted three-dimensional sequences to predict endoscopic third ventriculocisternostomy patency in children
9. NF2 and ZFTA evaluation in the diagnostic algorithm of pediatric posterior fossa ependymoma with H3K27ME3 retained expression
10. Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients
11. Pediatric spinal pilocytic astrocytomas form a distinct epigenetic subclass from pilocytic astrocytomas of other locations and diffuse leptomeningeal glioneuronal tumours
12. Posterior fossa ependymoma H3 K27-mutant: an integrated radiological and histomolecular tumor analysis
13. The longitudinal evolution of cerebral blood flow in children with tuberous sclerosis assessed by arterial spin labeling magnetic resonance imaging may be related to cognitive performance
14. Natural history of Myhre syndrome
15. The role of irinotecan-bevacizumab as rescue regimen in children with low-grade gliomas: a retrospective nationwide study in 72 patients
16. Myocardial involvement in children with post-COVID multisystem inflammatory syndrome: a cardiovascular magnetic resonance based multicenter international study—the CARDOVID registry
17. Fatal encephalitis caused by Newcastle disease virus in a child
18. Radiogenomics of diffuse intrinsic pontine gliomas (DIPGs): correlation of histological and biological characteristics with multimodal MRI features
19. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
20. MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
21. Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival
22. The EP300:BCOR fusion extends the genetic alteration spectrum defining the new tumoral entity of “CNS tumors with BCOR internal tandem duplication”
23. Histone H3 wild-type DIPG/DMG overexpressing EZHIP extend the spectrum diffuse midline gliomas with PRC2 inhibition beyond H3-K27M mutation
24. The “salt and pepper” pattern on renal ultrasound in a group of children with molecular-proven diagnosis of ciliopathy-related renal diseases
25. First Line Onyx Embolization in Ruptured Pediatric Arteriovenous Malformations
26. Posterior Fossa Arachnoid Cyst in a Pediatric Population is Associated with Social Perception and Rest Cerebral Blood Flow Abnormalities
27. Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
28. Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder
29. Neural and behavioral signature of human social perception
30. Comprehensive Review of 3D Segmentation Software Tools for MRI Usable for Pelvic Surgery Planning
31. “Perimortem” total body CT-scan examination in severely injured children: an informative insight into the causes of death
32. Author Correction: Targeted therapy in patients with PIK3CA-related overgrowth syndrome
33. Idiopathic, heritable and veno-occlusive pulmonary arterial hypertension in childhood: computed tomography angiography features in the initial assessment of the disease
34. Arterial Spin Labeling and Central Precocious Puberty
35. Targeted therapy in patients with PIK3CA-related overgrowth syndrome
36. Type I interferon-mediated autoinflammation due to DNase II deficiency
37. Individual radiation exposure from computed tomography: a survey of paediatric practice in French university hospitals, 2010–2013
38. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
39. Patient radiation doses and reference levels in pediatric interventional radiology
40. Mosaicism in ATP1A3-related disorders: not just a theoretical risk
41. Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
42. Papillary glioneuronal tumors: histological and molecular characteristics and diagnostic value of SLC44A1-PRKCA fusion
43. Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller’s dementia infantilis, a rare subtype of autism spectrum disorder
44. Radiation dose reduction in paediatric coronary computed tomography: assessment of effective dose and image quality
45. Histone H3F3A and HIST1H3B K27M mutations define two subgroups of diffuse intrinsic pontine gliomas with different prognosis and phenotypes
46. Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly
47. A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy
48. Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity
49. Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations
50. Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase
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