Results 81 to 90 of about 24,057 (201)

Osteofibroma in type I neurofibromatosis.

Background: Neurofibromatosis type 1 is an autosomal dominant genetic disorder caused by a mutation in the NF1 gene on chromosome 17q11.2. There is insufficient evidence in the literature regarding the prevalence and incidence of neurofibromatosis type 1 in Hispanic populations, including Mexico. However, globally, the prevalence is estimated at 1 in 3,
Daniela Isabel Ramírez Jiménez M.D., Daniela Michell Santillán Mérida M.D., Armando Apellaniz Campo M.D., Sebastián Trigueiros Guzmán M.D., Karla Ines Martínez Armendariz M.D.   +4 more
openaire   +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

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 type-I involving the upper maxilla

Revista de Ciencias Médicas de Pinar del Río, 2016
OK Introduction: Von Recklinghausen disease or neurofibromatosis type I (NF1) is an autosomal dominant disease with a wide clinical expression, with manifestations ranging from multiple café-au-lait spots to severe functional and aesthetic complications
Ernesto Carmona Fernández
doaj  

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

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

Personalized Selumetinib Dosing in Pediatric Neurofibromatosis Type 1: Insights From a Pilot Therapeutic Drug Monitoring Study

Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
ABSTRACT Objective To evaluate selumetinib exposure using therapeutic drug monitoring (TDM) in pediatric patients with neurofibromatosis type 1 (NF1) and plexiform neurofibromas (PN), assess interpatient pharmacokinetic variability, and explore the relationship between drug exposure, clinical response, and adverse effects.
Janka Kovács, Zoltán Köllő, Balázs Gellért Karvaly, Mahmoud Obeidat, Rita Nagy, Péter Hegyi, Brigitta Teutsch, Eszter Tuboly, Miklós Garami   +8 more
wiley   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1608-1618, July 2026.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Quantitative Control of Transposable Elements: From Genome Plasticity to Immune Regulatory Circuits

Cell Biochemistry and Function, Volume 44, Issue 7, July 2026.
ABSTRACT Transposable elements (TEs) constitute nearly half of the human genome and are increasingly recognized as context‐dependent regulators of genome function rather than passive repetitive DNA. This Review synthesizes classical and recent evidence on TE biology, including TE classification, mechanisms of mobilization, host restriction pathways ...
Irving Jesús Reyes‐Barragán
wiley   +1 more source