Results 131 to 140 of about 97,471 (278)
Medicentro, 2011 La neurofibromatosis (NF) es un trastorno hereditario caracterizado por la formación de neurofibromas (tumores que involucran al tejido nervioso) en la piel, tejido subcutáneo, nervios craneales y los nervios de la base de la columna vertebral1,2 ...
Teresa de los A. Casanova Rodríguez +2 more
doaj
Ewing sarcoma in a child with neurofibromatosis type 1. [PDF]
, 2019 We report here on a case of Ewing sarcoma (ES) occurring in a child with neurofibromatosis type 1. The sarcoma had an EWSR1-ERG translocation as well as loss of the remaining wild-type allele of NF1. Loss of the NF1 wild-type allele in the tumor suggests
Bastian, Boris C +6 more
core
Human Brain Mapping, Volume 47, Issue 2, February 1, 2026.Dynamic causal modelling of working memory fMRI in individuals with Neurofibromatosis Type 1 (NF1) revealed altered frontoparietal connectivity. NF1 participants showed increased endogenous self‐connectivity in left dlPFC and IPG. During working memory, NF1 participants showed increased self‐connectivity in left vlPFC but decreased self‐connectivity in
Marta C. Litwińczuk +3 more
wiley +1 more source
Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations
The Journal of Dermatology, Volume 53, Issue 2, Page 169-179, February 2026.ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley +1 more source
Genetic Landscape of Robin Sequence: A Systematic Review
Clinical Genetics, Volume 109, Issue 2, Page 218-232, February 2026.This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde +8 more
wiley +1 more source
Updated nomenclature for human and mouse neurofibromatosis type 1 genes [PDF]
, 2017 Anastasaki, Corina +3 more
core +2 more sources
Dermatology Online Journal, 2003 Segmental neurofibromatosis is a rare variant of neurofibromatosis in which skin lesions are confined to a circumscribed body segment. A case of a 72-year-old woman with this condition is presented. Clinical features and genetic evidence are reviewed.
openaire +4 more sources
Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 251-262, February 2026.In children potentially fulfilling the criteria for developmental coordination disorder (DCD), phenotypical assessment does not sufficiently predict the diagnostic outcome (i.e. DCD or an alternative diagnosis). Due to the lack of distinguishing clinical and diagnostic features and the high prevalence of genetic diagnoses in these patients, additional ...
Martinica Garofalo +5 more
wiley +1 more source
Multiple glomus tumors and segmental neurofibromatosis: there are no coincidences [PDF]
, 2011 Segmental neurofibromatosis is a rare subtype of neurofibromatosis type 1 (NF1). Glomus tumors are uncommon benign tumors.
Cabral, R, Santiago, F, Tellechea, O
core +1 more source
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