Results 31 to 40 of about 743 (164)

Coordinated medical care for children with neurofibromatosis type 1 and related RASopathies in Poland

Archives of Medical Science, 2019
Coordinated medical care offered in Poland for patients suffering from neurofibromatosis type 1 and related RASopathies combines complex multispecialty consultation with permanent supervision and the patient’s oriented longitudinal care ...
Marek W. Karwacki, Mariusz Wysocki, Marta Perek-Polnik, Agnieszka Jatczak-Gaca   +3 more
doaj   +1 more source

Pharmacology of inhibitors of Janus kinases – Part 2: Pharmacodynamics

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 20, Issue 12, Page 1621-1631, December 2022., 2022
Summary As small molecules, the Janus kinase inhibitors have different, dose‐dependent pharmacological binding selectivities, which, however, do not allow reliable statements about the clinical specificity of desired or side effects. It is therefore of particular importance to recognize that the pharmacodynamics of the individual Janus kinase ...
Adina Eichner, Johannes Wohlrab
wiley   +1 more source

Dermoscopy of the iris: identification of Lisch nodules and contribution to the diagnosis of neurofibromatosis type 1

Anais Brasileiros de Dermatologia, 2021
Neurofibromatosis is a common genodermatosis, whose diagnosis often involves the participation of a dermatologist. A case of a 38-year-old female patient with four café-au-lait macules and eleven neurofibromas on clinical examination is presented ...
Luciana Pavan Antoniolli, Laura de Mattos Milman, Renan Rangel Bonamigo   +2 more
doaj   +1 more source

A unique case of hereditary bilateral segmental neurofibromatosis on the face Neurofibromatose segmentar bilateral hereditária da face: caso único

Anais Brasileiros de Dermatologia, 2012
Segmental neurofibromatosis is a rare clinical finding generally with no family history and facial involvement. There are four subtypes of segmental neurofibromatosis: true segmental, localized cases with deep involvement, hereditary segmental and ...
Irena Jankovic, Predrag Kovacevic, Milan Visnjic, Dimitrije Jankovic, Milena Velickovic   +4 more
doaj   +1 more source

Neurofibromatose tipo 1: relato de um caso clínico

Revista Portuguesa de Medicina Geral e Familiar, 2013
Introdução: A neurofibromatose tipo 1 (NF1) é uma doença neurocutânea de hereditariedade autossómica dominante, ocorrendo mutações de novo em cerca de metade dos casos.
Ana Catarina Marques, Fátima Dinis
doaj   +1 more source

Mouse Models of Neurofibromatosis 1 and 2

Neoplasia: An International Journal for Oncology Research, 2002
The neurofibromatoses represent two of the most common inherited tumor predisposition syndromes affecting the nervous system. Individuals with neurofibromatosis 1 (NF1) are prone to the development of astrocytomas and peripheral nerve sheath tumors ...
David H. Gutmann, Marco Giovannini
doaj   +1 more source

Abordagem cirúrgica de neurofibroma gigante Surgical correction of a giant neurofibroma

Revista Brasileira de Cirurgia Plástica, 2012
Neurofibromatose é uma doença de origem genética autossômica dominante composta por três tipos: neurofibromatose tipo 1 (NF1), neurofibromatose tipo 2 (NF2) e schwannomatose.
Iana Silva Dias, Salustiano Gomes de Pinho Pessoa, José Everardo Macedo, Débora Juaçaba Cavalcante, Júlio César Garcia de Alencar   +4 more
doaj   +1 more source

Socially oriented attention in young children with neurofibromatosis type 1: An eye‐tracking study

Developmental Medicine &Child Neurology, Volume 68, Issue 4, Page 541-548, April 2026.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70050 Abstract Aim To examine visual engagement to social stimuli and response to joint attention in young children with neurofibromatosis type 1 (NF1) and typically developing peers (controls). Method Forty‐five preschool children were studied cross‐sectionally (mean age [SD] = 4 
Kristina M. Haebich, Darren R. Hocking, Hayley Darke, Rachel Mackenzie, Kathryn N. North, Giacomo Vivanti, Jonathan M. Payne   +6 more
wiley   +1 more source

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

Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

Movement Disorders, Volume 41, Issue 3, Page 779-784, March 2026.
Abstract Background Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower‐limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP. Objective The objective of this study was to assess whether CPT1C loss‐of‐function (LOF) variants are causally associated with HSP.
Rui Zhu, Lang Liu, Mehrdad A. Estiar, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Grace Yoon, Mark Tarnopolsky, Kym M. Boycott, Nicolas Dupre, Patrick A. Dion, Oksana Suchowersky, Albena Jordanova, Yi‐Chung Lee, Giovanni Stevanin, Stephan Zuchner, Guy A. Rouleau, Ziv Gan‐Or   +17 more
wiley   +1 more source