Results 141 to 150 of about 67,683 (260)
Advanced Photonics Research, Volume 7, Issue 5, May 2026.This review critically examines clinical studies on both conventional and machine learning (ML)‐integrated diffuse optical spectroscopy and imaging methods for dermatological applications, with a primary focus on the past decade and inclusion of earlier foundational work where appropriate.
Iftak Hussain +7 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1091-1097, May 2026.ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou +6 more
wiley +1 more source
Eye disorders in neurofibromatosis (NF1).
Collegium antropologicum, 2005 Neurofibromatosis type 1 (NF 1) is an autosomal dominant disorder with high index of spontaneous mutations and extremely varied and impredictible clinical manifestations. The aim of this work was to give an account of eye disorders in NF1. 132 patients of age 0-16 years with NF1 were followed up for 15 years.
Kordić, Rajko +4 more
openaire +3 more sources
GATA2 Mutations Predict Poor Prognosis in Transplanted Myeloid Neoplasms
Cancer Medicine, Volume 15, Issue 5, May 2026.ABSTRACT Background GATA binding protein 2 (GATA2) plays a crucial role in the differentiation, proliferation, and maintenance of hematopoietic stem cells (HSCs). GATA2 mutations have been identified in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS), but the impact of somatic GATA2 mutations on prognosis remains controversial ...
Xian Zhang +8 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 5, May 2026.ABSTRACT Paragangliomas may appear biochemically silent, yet still behave as functional tumors with severe intraoperative consequences. Normal preoperative catecholamine screening does not exclude the risk of hypertensive crisis during surgery.
Abdul Basit +5 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
Clinical Case Reports, Volume 14, Issue 5, May 2026.ABSTRACT Lentigines, café‐au‐lait macules (CALMs), and vitiligo are pigmentary disorders that seldom occur together in a single individual. Their co‐occurrence may indicate underlying genetic syndromes requiring differential diagnosis. We report an 18‐year‐old male who developed CALMs at age 11, agminated lentigines at age 13, and vitiligo on the right
Xinxin Lei, Bo Xie
wiley +1 more source
Molecular Carcinogenesis, Volume 65, Issue 5, Page 556-564, May 2026.ABSTRACT Early diagnosis of acute promyelocytic leukemia (APL), driven by PML‐RARA oncoprotein, is vital for survival, as delays can cause fatal coagulopathy without prompt therapeutic intervention of all‐trans retinoic acid and arsenic trioxide. Although APL is diagnosed using microscopy, immunophenotyping, and FISH/PCR for PML‐RARA, morphological ...
Akash Maity +17 more
wiley +1 more source
Clinical and Genetic Landscape of Glioblastoma, IDH‐Wildtype With FGFR Gene Family Alterations
Cancer Science, Volume 117, Issue 5, Page 1455-1468, May 2026.We analyzed 1076 cases of glioblastoma, IDH‐wildtype (GBM, IDH‐wt) using the C‐CAT genomic database to clarify the clinical and genetic features of FGFR alterations. FGFR::TACC fusions and FGFR1 mutations were identified in distinct subsets and were associated with unique co‐mutation patterns.
Yasuhito Kegoya +9 more
wiley +1 more source