Results 111 to 120 of about 49,367 (248)

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

The Efficacy of Pharmacotherapy Intervention on Anthropometric Outcomes in Survivors of Childhood Brain Tumors: An Updated Systematic Review and Meta‐Analysis

Obesity Reviews, EarlyView.
ABSTRACT Introduction Many survivors of childhood brain tumors face long‐term adverse health outcomes like obesity. Uncertainties surround the effect of interventions to manage obesity‐related outcomes in survivors of childhood brain tumors. The goal of this updated systematic review and meta‐analysis was to provide the best estimate of the treatment ...
David Hart, Lawrence Mbuagbaw, Joseph Beyene, Marwa Akola, Sarah Burrow, M. Constantine Samaan, Lehana Thabane, Adam Fleming, Donna L. Johnston, Shahrad R. Rassekh, Laura Banfield, Russell J. de Souza   +11 more
wiley   +1 more source

Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography

, 2016
Barmak Abdolrahimzadeh,1 Domenica Carmen Piraino,2 Giorgio Albanese,2 Filippo Cruciani,2 Siavash Rahimi3 1Polimed Beltramelli Medical Center, Rome, Italy; 2Section of Ophthalmology, Department of Sense Organs, University of Rome “Sapienza&rdquo ...
Rahimi S, Albanese G, Piraino DC, Abdolrahimzadeh B, Cruciani F   +4 more
core  

Familial segmental neurofibromatosis

, 2004
Segmental neurofibromatosis is considered to be the result of postzygotic NF1 gene mutations. We present a family in which the proband has generalized neurofibromatosis 1, whereas members of previous generations manifest segmental skin lesions.
Oguzkan, S, Ayter, S, Aysun, S, Cinbis, M, Anlar, B   +4 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

Segmental neurofibromatosis

Dermatology Online Journal, 2005
A 74-year-old man presented with skin-colored nodules in his left antecubital fossa. The lesions had been present for 35 years and were asymptomatic. Nodules elsewhere on the body, cafe-au-lait spots, axillary freckling, and Lisch nodules were absent. No family members had similar nodules.
openaire   +4 more sources

Incidence of Ophthalmological Complications in NF-1 Patients Treated with MEK Inhibitors

Current Oncology
MEK inhibitors (MEKi) represent innovative and promising treatments for managing manifestations of neurofibromatosis type 1 (NF1). To mitigate potential ophthalmic side effects, such as MEKi-associated retinopathy (MEKAR), patients undergoing MEKi ...
Lena Hummel, May Ameri, Shaikha Alqahtani, Zsila Sadighi, Nagham Al-Zubidi   +4 more
doaj   +1 more source

Urokinase Plasminogen Activator Receptor‐Associated Protein (uPARAP) as a Potential Next Generation Molecular Target for Treatment of Gastrointestinal Stromal Tumors (GIST)

International Journal of Cancer, Volume 159, Issue 3, Page 797-808, 1 August 2026.
A key component of the collagen internalization and lysosomal degradation cellular machinery, uPARAP may contribute to cancer progression. Here, the authors explored the expression of uPARAP in gastrointestinal stromal tumors using well‐annotated clinical patient samples and specimens from cell line‐ and patient‐derived xenografts.
Chao‐Chi Wang, Flavia Paternostro, Agnieszka Wozniak, Lore De Cock, Luna De Sutter, Kimberly Verbeeck, Ulla Vanleeuw, Daniël Gorgels, Che‐Jui Lee, Raf Sciot, Patrick Schöffski   +10 more
wiley   +1 more source

ESTUDIO IMAGENOLÓGICO DE NEUROFIBROMATOSIS. [PDF]

, 2018
LA NEUROFIBROMATOSIS ES UNA CONDICIÓN CARACTERIZADA POR MÚLTIPLES TUMORES DERIVADOS DE LAS CÉLULAS PRIMITIVAS. ESTOS TUMORES SE PRODUCEN A LO LARGO DE LAS VÍAS NERVIOSAS Y EN CUALQUIER PARTE DEL CUERPO, ENCONTRAMOS DOS TIPOS DE NEUROFIBROMATOSIS TIPO I Y
BAQUE ALCÍVAR, CRISTOPHER DAVID
core  

Familial Spinal Neurofibromatosis

, 1992
The clinical features and genetic linkage analysis of two pedigrees with familial spinal neurofibromatosis (NF) are described from the Divisions of Neurology and Medical Genetics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA; the
J Gordon Millichap
core   +1 more source