Results 91 to 100 of about 5,694 (184)

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, Volume 110, Issue 3, Page 315-324, September 2026.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

Protein Biomarkers in Risk and Prognosis of Amyotrophic Lateral Sclerosis

European Journal of Neurology, Volume 33, Issue 9, September 2026.
ABSTRACT Background Plasma and cerebrospinal fluid (CSF) protein biomarkers in amyotrophic lateral sclerosis (ALS) may provide insight into disease mechanisms and yield clinically useful biomarkers. Methods Overall, 363 proteins in plasma and CSF from 198 patients with ALS and 125 matched controls were profiled using Olink assays.
Lu Pan, Can Hou, Christina Seitz, Caroline Ingre, Åsa K. Hedman, Jose Laffita, Trung Nghia Vu, Yudi Pawitan, Abbe Ullgren, Solmaz Yazdani, John Andersson, Emily E. Joyce, Charilaos Chourpiliadis, Anikó Lovik, Yan Chen, Sebastian A. Lewandowski, Oscar Fernandez‐Capetillo, Myriam Barz, Kristin Samuelsson, Rayomand Press, Fredrik Piehl, Caroline Graff, Anders Mälarstig, Fang Fang   +23 more
wiley   +1 more source

Lymphoproliferative Syndrome in Pediatrist and Infectiologist Practice

Медицинский вестник Юга России, 2010
Chronic Epstein-Barr virus infection (CEBVI) is the frequent infectious cause of lymphoproliferative syndrome (LPS) in children. Purpose: To characterize the most informative CEBVI diagnostic criteria in children according to age and disease form ...
E. N. Simovanyan, A. M. Sarychev, V. B. Denisenko, A. V. Grigoryan   +3 more
doaj  

Hamartomatous polyp of the palatine tonsil: histological considerations and review of the literature. [PDF]

BMJ Case Rep, 2023
Goulioumis A, Gkorpa M, Kekempanou K, Kourelis K.   +3 more
europepmc   +1 more source

Differences in the metabolomic profile of the human palatine tonsil between pediatrics and adults. [PDF]

PLoS One, 2023
Lee S, Kim S, Kim SD, Oh SJ, Kong SK, Lee HM, Kim S, Choi SW.   +7 more
europepmc   +1 more source

Hamartomatous Polyp of the Palatine Tonsil: A Case Report and Critical Literature Review. [PDF]

Head Neck Pathol, 2023
do Amaral-Silva GK, Ribeiro-Brizola J, Santos ÁA, Cieslak-Sanches SR, Chicrala GM, Gaetti-Jardim EC, Antunes DM.   +6 more
europepmc   +1 more source

Fibroepithelial polyp of palatine tonsil: a case report. [PDF]

Pan Afr Med J, 2021
Marini K, Garefis K, Skliris JP, Peltekis G, Astreinidou A, Florou V.   +5 more
europepmc   +1 more source

Palatine tonsil metastatic colon adenocarcinoma. Case report. [PDF]

Braz J Otorhinolaryngol, 2022
Morales Medina G, Vallés Rodríguez C, Rettig Infante I, Bayona Romero M, Oyarzún Bahamonde E, Enterría González Á.   +5 more
europepmc   +1 more source

Ultrasound features of primary non-Hodgkin's lymphoma of the palatine tonsil: A case report. [PDF]

World J Clin Cases, 2021
Jiang R, Zhang HM, Wang LY, Pian LP, Cui XW.   +4 more
europepmc   +1 more source

Fibroangiolipoma of palatine tonsil: A case report and literature review

Ear, Nose & Throat Journal
Lipomas of the palatine tonsil are rare benign neoplasms in clinical practice. We present a case of palatine tonsillar fibroangiolipoma in a 50-year-old Chinese male with a history of multiple lipomas on the back and extremities.
Rui Lu MD, Xiong Chen MD, PhD, Shucheng Yin MD, PhD, Zhiyong Li MD, PhD   +3 more
doaj   +1 more source