Results 91 to 100 of about 548 (179)

Cécité irréversible induite par une carence en vitamine A chez un enfant atteint d’un trouble de restriction ou d’évitement de l’ingestion d’aliments secondaire à un syndrome de Noonan. [PDF]

CMAJ
Tran E, Gostimir M, Wood S, Taheri S, Makar I.   +4 more
europepmc   +1 more source

Similar Allele Frequencies of Two Pathogenic <i>NF2</i> variants in Each of Nine Sporadic Vestibular Schwannomas. [PDF]

Cancer Genomics Proteomics
Breun M, Schulz T, Monoranu CM, Ernestus RI, Matthies C, Hartung T, Kluwe L, Farschtschi S.   +7 more
europepmc   +1 more source

Whole-body MRI-based long-term evaluation of pediatric NF1 patients without initial tumor burden with evidence of newly developed peripheral nerve sheath tumors. [PDF]

Orphanet J Rare Dis
Schmalhofer ML, Farschtschi S, Kluwe L, Mautner VF, Adam G, Well L, Ristow I.   +6 more
europepmc   +1 more source

Ovarian cell tumor in a child with neurofibromatosis type 1. [PDF]

Ann Afr Med, 2022
Qutub LM, Al-Agha AE.
europepmc   +1 more source

Malignant peripheral nerve sheath tumors in neurofibromatosis type 1 arise from distinct nodular lesions: A retrospective imaging analysis. [PDF]

Neurooncol Adv
Salamon J, Widemann BC, Gross AM, Baldwin A, Farschtschi SC, Mautner VF, Dombi E.   +6 more
europepmc   +1 more source

[Sarcomatous transformation of Recklinghausen´s disease]. [PDF]

Pan Afr Med J, 2021
Barbach Y, Mernissi FZ.
europepmc   +1 more source

[Pulmonary involvement in rare systemic diseases-part 2 : Pulmonary manifestations in the context of lysosomal and metabolic storage diseases, phacomatosis, and neuromuscular disorders]. [PDF]

Radiologie (Heidelb)
Happe J, Frauenfelder T.
europepmc   +1 more source

Alterations in brain morphology by MRI in adults with neurofibromatosis 1. [PDF]

Orphanet J Rare Dis, 2021
Wang S, Mautner VF, Buchert R, Flibotte S, Suppa P, Friedman JM, Heran MKS.   +6 more
europepmc   +1 more source

vGanglioneurome médiastianal au cours de la neurofibromatose de Von Recklinghausen [Mediastinal ganglioneuroma in the neurofibromatosis of Von Recklinghausen]

Journal de la Faculté de Médecine d'Oran
Résumé Introduction - La neurofibromatose de Von Recklinghausen (NF1) est une maladie à transmission autosomique dominante, son incidence est estimée à 1/3000 naissances.
Malika Metahri, Abdelmadjid Snouber, Samir Bensaifi, Souad Maaroufi   +3 more
doaj  

Proof-of-principle of NF1 gene therapy in plexiform neurofibroma xenograft mouse models. [PDF]

Commun Biol
Hewa Bostanthirige D, Plante C, Caron M, Gascon S, Lévesque M, Poirier C, Deschenes M, Sabo Vatasescu JP, Chabot B, Geha S, Laurent B, Brosseau JP.   +11 more
europepmc   +1 more source