Results 121 to 130 of about 30,899,307 (191)

Proposal of an Algorithm for the Clinical and Molecular Diagnosis of RASopathies Based on HPO Nomenclature. [PDF]

Int J Mol Sci
Meneses F, Quintero C, Lores J, Gómez-Pineda E, Ramírez-Montaño D, Candelo E, Pachajoa H.   +6 more
europepmc   +1 more source

Lymphangiopathy in neurofibromatosis 1 manifesting with chylothorax, pericardial effusion, and leg edema

, 2013
Josef Finsterer,1 Claudia Stollberger,2 Elisabeth Stubenberger,3 Sasan Tschakoschian4 1Krankenanstalt Rudolfstiftung, Vienna, Austria; 2Medical Department, Krankenanstalt Rudolfstiftung, Vienna, Austria; 3Thoracic Surgery Department, Vienna, Austria ...
Stubenberger E, Tschakoschian S, Finsterer J, Stollberger C   +3 more
core  

Case Report: Clinical and molecular genetic analysis of a patient with coexisting complete androgen insensitivity syndrome and neurofibromatosis type 1 and 15pstk + polymorphism. [PDF]

Front Pediatr
Wang W, Jiao Y, Xiu Y, Wang J, Hu Y.
europepmc   +1 more source

RBPMS::NTRK3-rearranged sacral malignant spindle cell tumor in neurofibromatosis diagnosed by RNA sequencing: a case report and literature review. [PDF]

Front Med (Lausanne)
Chen C, Qi B, Miao Y, Zhuang Z, Wang C, Dai W.   +5 more
europepmc   +1 more source

Sporadic sarcoma arising from a previously resected benign vestibular schwannoma without neurofibromatosis or radiosurgery: illustrative case. [PDF]

J Neurosurg Case Lessons
Menaker SA, Michel M, Garcia CM, Robinson E, Fan X, Lekovic GP, Yu JS.   +6 more
europepmc   +1 more source

Advancing neurofibromatosis research: a comparative review of animal models and their utility in dissecting the tumor microenvironment. [PDF]

Lab Anim Res
Li AL, Chen YM.
europepmc   +1 more source

Clinical and Molecular Characterization of a RASopathy Cohort From Türkiye and an AMMECR1-Related Noonan Syndrome-Mimicking Phenotype. [PDF]

Clin Genet
Akbaş ENK, Toksoy G, Avcı Ş, Altunoğlu U, Kalaycı T, Sayın GY, Kayserili H, Uyguner ZO, Aslanger AD.   +8 more
europepmc   +1 more source

Toward More Accurate Diagnosis in Neurofibromatosis Type 1: A Dual-Level Analysis of Clinical and Molecular Data with Exploratory Genotype-Phenotype Correlations in a Romanian Cohort. [PDF]

Genes (Basel)
Butnariu LI, Grigore E, Schreiner TG, Darie L, Popa S, Grigore I.   +5 more
europepmc   +1 more source

Neurofibromatosis type 1 and attention deficit hyperactivity disorder: a case study and literature review

, 2015
Carmen Sílvia Miguel, Tiffany M Chaim-Avancini, Maria Aparecida Silva, Mario Rodrigues LouzãAdult Attention Deficit Hyperactivity Disorder Program (PRODATH), Institute of Psychiatry, University of São Paulo, São Paulo ...
Louzã MR, Miguel CS, Silva MA, Chaim-Avancini TM   +3 more
core  

Prevalence of neuropsychiatric and seizure disorders in neurofibromatosis type 1: a systematic review and meta-analysis. [PDF]

J Neurol
Moreno-Charco E, Pascual-Morena C, Álvarez-Bueno C, Zuheros-Lara B, Martínez-García I, Martínez-Sánchez P, Contreras-Molina M, Patiño-Cardona S.   +7 more
europepmc   +1 more source