Results 71 to 80 of about 20,018 (209)
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
Tailgut cyst and perineal hydatid cyst: A case report with multimodality imaging findings [PDF]
, 2016 A tailgut cyst is a rare developmental lesion and usually is located in the retrorectal or presacral space. Extrahepatic hydatid disease has been reported in several locations including the pelvis and it often poses a diagnostic challenge. There are very
Alghofaily, Khalefa Ali +3 more
core +4 more sources
Persistent Facial Nodules in an Elderly Patient
JEADV Clinical Practice, EarlyView.
Qian Ding +2 more
wiley +1 more source
Clinical Genetics, Volume 109, Issue 2, Page 363-367, February 2026.We report a unique case of early‐onset colorectal cancer with both a germline MSH6 variant and constitutional mosaic MLH1 epimutation, revealing a possible digenic mechanism underlying Lynch syndrome. This case highlights the diagnostic complexity of mismatch repair deficiency and the value of integrative tumor–germline molecular profiling.
Aasem Abu Shtaya +7 more
wiley +1 more source
Scalp Neurofibroma Presenting with Hematoma After Trauma
Haseki Tıp Bülteni, 2019 Neurofibromatosis (NF) type 1 is a hereditary, autosomal dominant neurocutaneous syndrome often accompanied by diffuse neurofibromas in the body, increased skin pigmentation (cafe-au-Iait spots) and central nervous system tumors. Neurofibromas are tumors
Şevki Gök +2 more
doaj +1 more source
Preclinical assessments of the MEK inhibitor PD-0325901 in a mouse model of neurofibromatosis type 1. [PDF]
, 2015 Background: Neurofibromatosis type 1 (NF1) is a genetic disorder that predisposes affected individuals to formation of benign neurofibromas, peripheral nerve tumors that can be associated with significant morbidity. Loss of the NF1 Ras-GAP protein causes
Cripe, Timothy P. +10 more
core +1 more source
ALK Expression in Nerve Sheath Myxoma: A Potential Diagnostic Pitfall
Journal of Cutaneous Pathology, EarlyView.
Daniel Cole +6 more
wiley +1 more source
European Journal of Neurology, Volume 33, Issue 2, February 2026.ABSTRACT Background Intraneural perineurioma (INP) is a rare, benign peripheral nerve sheath tumour that typically presents in adolescence or early adulthood as a slowly progressive, motor‐predominant mononeuropathy or plexopathy. Although its clinicoradiological and histopathological features are well characterised, the genetic basis remains ...
Eduardo Boiteux Uchôa Cavalcanti +7 more
wiley +1 more source
Delayed rectifier K currents in NF1 Schwann cells
Neurobiology of Disease, 2003 K+ (K) currents are related to the proliferation of many cell types and have a relationship to second messenger pathways implicated in regulation of the cell cycle in development and certain disease states.
Lynne A Fieber +3 more
doaj +1 more source
Sacroiliac Joint Involvement: An Underreported Complication of NF1
American Journal of Medical Genetics Part A, Volume 200, Issue 1, Page 223-228, January 2026.ABSTRACT NF1‐related bone dysplasia in children and young adults with neurofibromatosis type 1 (NF1) involving the sacroiliac joint has been rarely described. We report four participants who underwent whole‐body magnetic resonance imaging (WB‐MRI) as part of a longitudinal imaging and plexiform neurofibroma (PN) biomarker study (NCT05238909) at Ann ...
Jenny P. Garzon +6 more
wiley +1 more source