Results 131 to 140 of about 30,899,280 (234)

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  

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

Updated nomenclature for human and mouse neurofibromatosis type 1 genes [PDF]

Neurology Genetics, 2017
Anastasaki, Corina, Le, Lu Q, Kesterson, Robert A, Gutmann, David H   +3 more
openaire   +3 more sources

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

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

A case of neurofibromatosis type 1 with malignant peripheral nerve sheath tumor and metastatic pheochromocytoma. [PDF]

JCEM Case Rep
Umamoto K, Uchihara M, Tanase-Nakao K, Hyodo A, Kubota M, Tanabe A.   +5 more
europepmc   +1 more source

Whole-genome sequencing in Brazilian patients with neurofibromatosis type 1, including novel variants, incidental findings, and dual diagnoses. [PDF]

Einstein (Sao Paulo)
Angeloni LL, Jorente J, Oliveira Sobrinho RP, Gil-da-Silva-Lopes VL, Vidoti-Nascimento CG, Guaragna MS, Vieira TP, Steiner CE, Brazilian Rare Genomes Project Consortium, Teixeira ACB, Coelho AVC, Quaio CRAC, Moreno CA, Perrone E, Nascimento Junior JBD, Espolaor JGA, Prota JRM, Oliveira Filho JB, Ceroni JRM, Chen K, Ferreira LT, Santana LS, Mofatto LS, Virmond LDA, Silva MFB, Migliavacca MP, Minillo RM, Yamada RY, Sitnik R, Almeida TF, Silva TYT, Cintra VP.   +31 more
europepmc   +1 more source

Precocious puberty in boys: current insights into etiology, genetic advances, and environmental factors. [PDF]

Front Endocrinol (Lausanne)
Amodeo ME, Mirra G, Deodati A, Cianfarani S.   +3 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
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