Results 121 to 130 of about 49,367 (248)
Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.ABSTRACT Objective To evaluate selumetinib exposure using therapeutic drug monitoring (TDM) in pediatric patients with neurofibromatosis type 1 (NF1) and plexiform neurofibromas (PN), assess interpatient pharmacokinetic variability, and explore the relationship between drug exposure, clinical response, and adverse effects.
Janka Kovács +8 more
wiley +1 more source
Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies
American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1608-1618, July 2026.ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio +16 more
wiley +1 more source
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
Quantitative Control of Transposable Elements: From Genome Plasticity to Immune Regulatory Circuits
Cell Biochemistry and Function, Volume 44, Issue 7, July 2026.ABSTRACT Transposable elements (TEs) constitute nearly half of the human genome and are increasingly recognized as context‐dependent regulators of genome function rather than passive repetitive DNA. This Review synthesizes classical and recent evidence on TE biology, including TE classification, mechanisms of mobilization, host restriction pathways ...
Irving Jesús Reyes‐Barragán
wiley +1 more source
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
, 2001 Extensive retinal microvascular malformation involving both small and large retinal vessels. (Ref: BJO 2002:86, p282-284). Anatomy: Retina. Pathology: Retinal microvascular malformations. Disease/Diagnosis: Neurofibromatosis type 1.
William F. Hoyt, MD
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Metastatic Unfunctional Pancreatic Neuroendocrine Tumor in Lynch Syndrome
Clinical Case Reports, Volume 14, Issue 7, July 2026.ABSTRACT Lynch syndrome (LS), a well‐known cancer risk syndrome, is caused by deleterious germline mutations in the mismatch repair genes. LS predispose patients to various types of cancers including colon adenocarcinoma. We discuss the case of a woman with LS who also developed a non‐functioning pancreatic neuroendocrine tumor (P‐NET) following ...
Fateme Salemi +5 more
wiley +1 more source
Sclerosing segmental neurofibromatosis.
, 2005 Segmental neurofibromatosis is a rare disorder characterized by cafe-au-lait macules and/or neurofibromas limited to a single body segment. The neurofibromas in segmental neurofibromatosis are usually soft, non-tender nodules as in other types of ...
Kim, YC, Lee, JS
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