Results 131 to 140 of about 25,083,649 (268)

Interventions supporting the empowerment of parent carers of children with neurodisability and other long‐term health conditions: A scoping review

Developmental Medicine &Child Neurology, Volume 68, Issue 4, Page 489-500, April 2026.
This scoping review identified 145 different interventions designed to support parent carer empowerment. These interventions have been catalogued and are presented in an interactive, online database. Abstract Aim To compile information about interventions that have been developed to support the empowerment of parent carers of children and young people ...
Jim Reeder, Morwenna Rogers, Phillip Harniess, Fatema Shamsaddin, Caomhán McGlinchey, Jane R Smith, Sally Kendall, Christopher Morris   +7 more
wiley   +1 more source

A collision of vestibular schwannoma and meningioma in the cerebellopontine angle: one case report

Chinese Journal of Contemporary Neurology and Neurosurgery, 2022
SHI Wei , WANG Shan, YAO Jing⁃jing, GUO Yi , YANG Xue⁃jun   +4 more
doaj   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

ENFERMEDAD DE VON RECKLINGHAUSEN Y EMBARAZO

Revista Chilena de Obstetricia y Ginecología, 2002
La enfermedad de Von Recklinghausen (neurofibromatosis) es una condición autosómica dominante la cual ha tenido variables expresiones clínicas, con manifestaciones que van de lesiones cutáneas moderadas a complicaciones ortopédicas severas y alteraciones
Gregorio Evans M., Ronald Poulsen R., Cristián Mardones S.   +2 more
doaj  

Rare uro-genital manifestations of von Recklinghausen disease: Scrotal, penile, and intrapelvic involvement with bladder and spermatic cord extension: A case report

Radiology Case Reports
Neurofibromatosis is a group of genetic disorders comprising 2 main types: type 1 neurofibromatosis (NF-1) and type 2 neurofibromatosis. The most common form is NF-1, also known as Von Recklinghausen disease.
Nadia El Mahi, Amal Mojahid, Hajar Siouri, Hamid Ziani, Siham Nasri, Imane Kamaoui, Imane Skiker   +6 more
doaj   +1 more source

Neurofibromatosis 2: rare constellation of findings with extensive cranial nerve involvement. [PDF]

Radiol Case Rep, 2021
Hiremath R, Dakshin V, Agrawal S.
europepmc   +1 more source

How Far Can we Go? Managing Moyamoya Syndrome in a 3‐Year‐Old With Thalassemia Major: A Rare Pediatric Case From Nepal

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Moyamoya syndrome (MMS) is a rare progressive cerebrovascular disorder causing stenosis of intracranial arteries and collateral vessel formation. Pediatric presentations often include ischemic strokes, and coexisting Thalassemia Major may worsen vascular outcomes.
Kshitiz Parajuli, Abhisek Jha, Aron Neupane, Shristi Gupta, Nischal Timsina, Sagar Bhagat, Raja Babu Gupta, Anand Sah, Anup Katwal   +8 more
wiley   +1 more source

Optical coherence tomography significance in managing complex neurofibromatosis 2-related papilledema: Report of a case. [PDF]

JRSM Open, 2021
Maria Bacci G, Giordano F, Sardi I, Evans G, Pathmanaban O, Fonte C, Trabalzini F, Nappini S, Mura R, Caputo R.   +9 more
europepmc   +1 more source

Macroglossia Due to Symmetrical Lipomatosis of the Tongue: A Rare Presentation of Madelung's Disease—Case Report

Clinical Case Reports, Volume 14, Issue 3, March 2026.
Symmetrical lipomatosis of the tongue is a rare manifestation of Madelung´s disease, characterized by diffuse, non‐encapsulated adipose tissue growth. We present the first reported Latin American case of a 58 year old patient treated with symmetrical bilateral glossectomy which preserved tongue functionality and significantly improved quality of life ...
Daniela Salamanca‐Ramirez, Daniel Felipe Villa‐Zuluaga, Diego Alejandro Ardila‐Torres   +2 more
wiley   +1 more source

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