Results 101 to 110 of about 24,619,681 (234)

Diagnostic and therapeutic process of neurofibromatosis type 1 and type 2

Journal of Education, Health and Sport
Neurofibromatosis is one of the most common genetic diseases. It is inherited in an autosomal dominant manner. It is divided into two genetically distinct subtypes, characterised by multiple skin lesions and tumours of the peripheral and central nervous 
Michał Leśniewski, Iwona Welian-Polus, Izabela Oleksak, Karolina Maliszewska   +3 more
doaj   +1 more source

Prospective phase II trial of the dual mTORC1/2 inhibitor vistusertib for progressive or symptomatic meningiomas in persons with neurofibromatosis 2. [PDF]

Neurooncol Adv, 2023
Jordan JT, Orr CC, Thalheimer RD, Cambillo JV, Beauchamp RL, Shaikh G, Muzikansky A, Stemmer-Rachamimov A, Giovannini M, Kalamarides M, Barker FG, Ramesh V, Plotkin SR.   +12 more
europepmc   +1 more source

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

Neurofibromatosis

, 2011
Neurofibromatosis 1 and 2 have historically been grouped together. However they represent two distinct diseases separated both genetically and clinically.
George Tharakan
core   +1 more source

Pneumosinus dilatans and orbital meningioma in neurofibromatosis type 2

B-ENT, 2005
Pneumosinus dilatans and orbital meningioma in neurofibromatosis type 2. We report on a 9-year-old boy with neurofibromatosis type 2 and a progressive proptosis of the left eye.
T. Vauterin, I. Mombaerts, M. Jorissen, R. Sciot, E. Legius   +4 more
doaj   +2 more sources

Erratum to "Neurofibromatosis 2: Rare constellation of findings with extensive cranial nerve involvement" [Radiology Case Reports 16 (2021) 157-165]. [PDF]

Radiol Case Rep, 2022
Hiremath R, Dakshin V, Agrawal S.
europepmc   +1 more source

Tongue schwannomas associated with neurofibromatosis type 2

Oral and Maxillofacial Surgery Cases, 2018
Schwannomas are typically solitary benign neural tumors; however, multiple lesions associated with the rare genetic disorder neurofibromatosis type 2 (NF2) have been reported in some cases.
Harusachi Kanazawa, Hirotaka Sawai, Akihiro Kita, Nao Koide, Masanobu Yamatoji, Atsusi Kasamatsu, Katsuhiro Uzawa   +6 more
doaj   +1 more source

Building a precision therapeutics program at a tertiary care children's hospital

Pediatric Investigation, EarlyView.
Luke Hamilton, Heidi Trinkman, Diana Carrasco, Kaitlin Smith, Kelly Vallance, Alejandra Dominguez, Danielle Miller, Megan Gibbs, Anish Ray   +8 more
wiley   +1 more source

Neurofibromatosis

, 2009
Neurofibromatosis (NF) is one of the most common genetic disorders. Inherited in an autosomal dominant fashion, this phacomatosis is classified into two genetically distinct subtypes characterized by multiple cutaneous lesions and tumors of the ...
Gerber PA, Bölke E, Matuschek C, Antal AS, Homey B, Peiper M, Budach W, Neumann NJ   +7 more
core   +1 more source

Periodontal Disease and Salivary Gland Dysfunction in Neurofibromatosis Type 1: A Case–Control Study

Oral Diseases, EarlyView.
ABSTRACT Objectives Neurofibromatosis type 1 (NF1) presents with diverse systemic and oral manifestations. The aim of this study was to investigate the periodontal status and salivary alterations in NF1 individuals. Methods A total of 38 individuals with NF1 diagnostic criteria were compared with a control group paired by age and sex.
Eloá Borges Luna, Gustavo de Souza Vieira, Flávia Lima Kleinsorgen Motta, Ana Beatriz Oliveira Gambôa, Analúcia Rampazzo Xavier, Rafaela Elvira Rozza‐de‐Menezes, Karin Soares Cunha   +6 more
wiley   +1 more source