Results 71 to 80 of about 2,776 (190)
Clinical Genetics, Volume 109, Issue 5, Page 859-868, May 2026.The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson +22 more
wiley +1 more source
Ancient Schwannoma in the Nasal Cavity—A Rare Case Report With Brief Literature Review
Eye &ENT Research, Volume 3, Issue 3, Page 179-185, September 2026.
Shikhar Chohan +2 more
wiley +1 more source
Evaluating the Genetic Overlap Between Congenital Heart Disease and Neuroblastoma Risk
Pediatric Blood &Cancer, Volume 73, Issue 2, February 2026.ABSTRACT Children with congenital heart disease (CHD) have elevated neuroblastoma (NB) risk, potentially due to shared neural crest origins. We analyzed rare exonic de novo single‐nucleotide variants in 702 CHD and 454 NB trios from the Neuroblastoma Epidemiology in North America Study, Gabriella Miller Kids First Program, and a published cohort. Seven
Ji Yun Tark +7 more
wiley +1 more source
TANC1::HTRA1 fusion in schwannomas
Brain Pathology, Volume 36, Issue 5, September 2026.
Ilay Caliskan +3 more
wiley +1 more source
Recombinant Human Neuregulin1‐β1 Significantly Reduces Schwannoma Growth in Mice
Annals of Neurology, Volume 99, Issue 2, Page 369-381, February 2026.[Color figure can be viewed at www.annalsofneurology.org] rhNRGβ1‐Replacement‐Therapy: Under physiological conditions, NRGβ1 is expressed on axons (in orange), where it activates ERBB2 receptors, facilitating successful nerve regeneration following injury.
Julia P. Bischoff +7 more
wiley +1 more source
SMARCA4-Associated Schwannomatosis
, 2022 Abstract Background Schwannomatosis is a disorder characterized by a predisposition to multiple benign spinal, peripheral and intracranial nerve sheath tumors (schwannomas (SWNs)). The molecular mechanism of schwannomatosis involves several genes located on chromosome 22q, SMARCB1, LZTR1, NF2 and more recently, DGCR8. Case Presentation: here,
Fiona Chan-Pak-Choon +11 more
openaire +1 more source
Schwannomatosis Cell line and Parent Tumor characteristics.
, 2015 Schwannomatosis cell line Hp-SWN-14F and its parent tumor s express Schwann cell markers, p75/NGFR, S100B, and NGF as determined by RT-PCR.
Allan Belzberg (837128) +4 more
core +1 more source
LZTR1 loss-of-function variants associated with café au lait macules with or without freckling
Frontiers in NeurologyPathogenic variants in the leucine zipper-like transcriptional regulator 1 gene (LZTR1) have been identified in schwannomatosis and Noonan syndrome. Here, we expand the phenotype spectrum of LZTR1 variants.
Svea Horn +17 more
doaj +1 more source
Trametinib in Adults with Neurofibromatosis Type 1‐Related Symptomatic Plexiform Neurofibromas
Annals of Neurology, Volume 99, Issue 1, Page 73-83, January 2026.Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
D. Christine Noordhoek +7 more
wiley +1 more source
Simple schwannomatosis or an incomplete Coffin-Siris? Report of a particular case
eNeurologicalSci, 2019 Background: Schwannomatosis is a genetic disorder that belongs to NF family. The mutation of SMARCB1 gene has been related to this entity and Coffin-Siris syndrome, as well. We reported a case of a female patient with SMARCB1 mutation who has developed a
G. Bellantoni +4 more
doaj +1 more source