Results 41 to 50 of about 5,037 (177)
Atypical clinical manifestations and genotype-phenotype correlations of neurofibromatosis type 1
Сибирский онкологический журнал, 2022 Purpose of the study: Analysis of available data on geno-phenotypic correlations and atypical forms of neurofibromatosis type 1. Material and methods. We searched for relevant sources in the Scopus, Web of Science, PubMed systems, including publications ...
R. N. Mustafin
doaj +1 more source
The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics
Clinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree +18 more
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Dyspnoea and restrictive lung disease due to mediastinal and pleural lipomatosis in morbid obesity
Respirology Case Reports, 2019 Dyspnoea in obese patients can be multifactorial and complex. Mediastinal and pleural lipomatosis can be associated with obesity and is usually considered asymptomatic and benign. We report an obese 39‐year‐old man who presented with progressive dyspnoea,
Jen Yuh Lim +2 more
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Advanced Science, Volume 13, Issue 32, 9 June 2026.This study demonstrates significantly reduced Lkb1 expression in CD11c+ cells in chronic pancreatitis (CP) patients and animal models. Lkb1 deletion enhances CD11c+CD206+ macrophage infiltration and reprograms pancreatic stellate cells (PSCs) via OSM signaling.
Wenqing Zhang +10 more
wiley +1 more source
Pelvic lipomatosis associated with portal vein thrombosis and hydronephrosis: a case report
Journal of International Medical Research, 2019 Pelvic lipomatosis is an uncommon disease with no clear etiology and it occurs secondary to deposition of a large amount of fatty tissue in the pelvis. This deposition causes compression to the rectum, bladder, and venous structures.
Özkacmaz Sercan
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Congenital infiltrating lipomatosis of the face
Journal of Marine Medical Society, 2021 Congenital infiltrating lipomatosis of the face (CLIF) is a rare condition that is included in the subgroup of lipomatous tumor-like lesions. We present a rare case of CLIF in a 19-year-old male with clinical, imaging, and histopathological findings ...
Dhiraj Kumar Jaiswal +3 more
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Metachronous Primary Pancreatic Neuroendocrine Tumor and Adenocarcinoma: A Case Report
Cancer Reports, Volume 9, Issue 6, June 2026.ABSTRACT Background Pancreatic ductal adenocarcinoma (PDAC) has a dismal prognosis, with most patients presenting with advanced disease. Surgical resection remains the only potentially curative option, yet recurrence rates are high. Case We present a rare case of metachronous primary pancreatic neuroendocrine tumor (PanNET) and PDAC in a 71‐year‐old ...
Anastasia S. Fatyanova +7 more
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Current Issues in Molecular Biology, 2023 Congenital infiltrating lipomatosis of the face (CILF) is a rare, congenital, nonhereditary facial overgrowth due to post-zygomatic activating mutations in PIK3CA gene. It is unilateral and involves hypertrophy of both the soft and hard tissue structures
Kei Shing Oh +4 more
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Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.We report a neonatal SDS patient with earliest onset of symptoms. The c.2935C>T and c.3149_3151delCAC compound heterozygous variants reported in this study expand the mutational spectrum of this disease. ABSTRACT Objective This investigation reports on a Shwachman‐Diamond syndrome (SDS) case arising from compound heterozygous genetic variations ...
Xiaoying Zhou +4 more
wiley +1 more source
Unusual Lesions in a Long‐Term Dialysis Patient
Oral Diseases, EarlyView.
Domenico De Falco +2 more
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