Results 131 to 140 of about 55,376 (256)

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

Journal of Intellectual Disability Research, Volume 70, Issue 6, Page 608-652, June 2026.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld, Louise Cox, Petri J. C. M. Embregts, Alistair R. Niemeijer, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen   +6 more
wiley   +1 more source

A Comprehensive Review of Traditional and Machine Learning‐Assisted Diffuse Optical Spectroscopy and Imaging Techniques for Dermatological Applications

Advanced Photonics Research, Volume 7, Issue 5, May 2026.
This review critically examines clinical studies on both conventional and machine learning (ML)‐integrated diffuse optical spectroscopy and imaging methods for dermatological applications, with a primary focus on the past decade and inclusion of earlier foundational work where appropriate.
Iftak Hussain, Li Xiuting, Randall Ang Jie, Keertana Vinod Ram, Mark Teo Ju Teng, Valerie Xinhui Teo, Malini Olivo, U. S. Dinish   +7 more
wiley   +1 more source

Robotic resection for splenic artery aneurysm associated with neurofibromatosis type 1: a case report

Journal of Medical Case Reports
Background Neurofibromatosis type 1 is an autosomal-dominant disease characterized by café-au-lait spots and neurofibromas, as well as various other symptoms in the bones, eyes, and nervous system.
Akihiko Ueda, Kenta Saito, Hiromichi Murase, Tomokatsu Kato, Hiroyuki Imafuji, Mamoru Morimoto, Ryo Ogawa, Hiroki Takahashi, Yoichi Matsuo, Shuji Takiguchi   +9 more
doaj   +1 more source

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

, 2017
Anastasaki, Corina, Gutmann, David H, Kesterson, Robert A, Le, Lu Q   +3 more
core   +2 more sources

Merlin Phosphorylation by p21-activated Kinase 2 and Effects of Phosphorylation on Merlin Localization [PDF]

, 2002
The Nf2 tumor suppressor gene product merlin is related to the membrane-cytoskeleton linker proteins of the band 4.1 superfamily, including ezrin, radixin, and moesin (ERMs). Merlin is regulated by phosphorylation in a Rac/cdc42-dependent fashion.
Eckman, Matthew S., Jacks, Tyler, Johnson, Kristen C., Kissil, Joseph L.   +3 more
core   +1 more source

Deciphering and Targeting the Schwannoma‐Neuron‐Macrophage Crosstalk for the Treatment of Schwannomatosis and Associated Pain

Advanced Science, Volume 13, Issue 26, 8 May 2026.
We established patient‐derived SWN cell lines and orthotopic PDX models that recapitulate patient pain phenotypes, alongside a novel intravital DRG imaging platform to track macrophage infiltration and neuronal pain responses. Using these models, we define HMGB1–CCL2–IL‐6 signaling crosstalk driving pain and identify EGF signaling as a key regulator of
Zhenzhen Yin, Limeng Wu, Yanling Zhang, Yao Sun, Grace Y. Lee, Simeng Lu, Xing Gao, John W. Chen, Sonu Subudhi, William Ho, Chao Zhu, Jun Ren, Gino B. Ferraro, Alona Muzikansky, Anat Stemmer‐Rachamimov, Jianren Mao, Scott R. Plotkin, Lei Xu   +17 more
wiley   +1 more source

CHARACTERISTICS OF INDIVIDUALS UNDERGOING PANEL GENETIC TESTING FOR PRIMARY BRAIN TUMORS [PDF]

, 2018
Background. Currently, there are no genetic testing guidelines for patients with a primary brain tumor (PBT). This population is largely understudied in terms of the family history, tumor grade, pathology, and their relation to genetic contribution.
Azam, Sarah
core   +1 more source

Multiple Oral and Eyelid Nodules in a Pediatric Patient

Oral Diseases, EarlyView.
Caique Mariano Pedroso, Paulo Victor Mendes Penafort, Patrícia Vitor de Souza, Fernanda M. Pascon, Regina Maria Punppin‐Rontani, Beatriz Frolini Paulo Cherve, Rachel Marinho Robim, Regina Maria Holanda de Mendonça, Marcio Ajudarte Lopes, Pablo Agustin Vargas, Alan Roger Santos‐Silva   +10 more
wiley   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1091-1097, May 2026.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Neurofibromatosis type 1

Muller Journal of Medical Sciences and Research, 2013
P Chaitra, M Ramesh Bhat
doaj   +1 more source