Results 121 to 130 of about 24,558 (240)
HERVs, transposons and human diseases : part II [PDF]
, 2013 Part 1 and part 3 of the article can be found through this link : https://www.um.edu.mt/library/oar//handle/123456789/12961 https://www.um.edu.mt/library/oar//handle/123456789/13132Part 2 of the article.
Baldacchino, Sandra, Grech, Alfred
core
Advanced Science, Volume 13, Issue 26, 8 May 2026.We established patient‐derived SWN cell lines and orthotopic PDX models that recapitulate patient pain phenotypes, alongside a novel intravital DRG imaging platform to track macrophage infiltration and neuronal pain responses. Using these models, we define HMGB1–CCL2–IL‐6 signaling crosstalk driving pain and identify EGF signaling as a key regulator of
Zhenzhen Yin +17 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
Indian Pediatrics Case ReportsBackground: Juvenile myelomonocytic leukemia (JMML) is known to be associated with certain genetic variants involved in the RAS pathway. We describe a child with JMML associated with Neurofibromatosis Type 1 (NF1) variant.
Reshma Thomas, Abhilasha Sampagar
doaj +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
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
Schwannomatosis of the Spinal Accessory Nerve: A Case Report. [PDF]
, 2019 Schwannomatosis is a distinct syndrome characterized by multiple peripheral nerve schwannomas that can be sporadic or familial in nature. Cases affecting the lower cranial nerves are infrequent.
Chin, Cynthia T +4 more
core
Lijecnicki vjesnik, 2006 Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with a prevalence of about 1/3000. The clinical diagnosis of NF1 is based on the presence of two or more of the following criteria: six or more café au lait spots, >2 neurofibromas of any type or 1 plexiform neurofibroma, freckling in the axillary or inguinal region, optic glioma, a ...
Zlatko, Sabol, Ljiljana, Kipke-Sabol
openaire +1 more source
Clinicopathological Characteristics and Outcomes of Genitourinary Rhabdomyosarcoma in Two Girls
Clinical Case Reports, Volume 14, Issue 5, May 2026.ABSTRACT Rhabdomyosarcoma (RMS) is a soft tissue neoplasm accounting for about 8% of solid tumors in children. There are mainly four histologic subtypes of RMS: embryonal, alveolar, spindle cell/sclerosing, and pleomorphic. The genitourinary tract is the second most affected primary site of RMS. Genitourinary RMS is more common in young boys than girls.
George Evele +3 more
wiley +1 more source
Clinical Epidemiology, 2018 Maral Adel Fahmideh,1 Giorgio Tettamanti,1 Catharina Lavebratt,2 Mats Talbäck,1 Tiit Mathiesen,3,4 Birgitta Lannering,5 Kimberly J Johnson,6,7 Maria Feychting1 1Unit of Epidemiology, Institute of Environmental Medicine, Karolinska Institutet ...
Adel Fahmideh M +7 more
doaj