Results 101 to 110 of about 33,512 (212)

Sutural cataract in neurofibromatosis type 1

Indian Journal of Ophthalmology. Case Reports, 2023
Athul S Puthalath, Prashant K Verma, Sreeram Jayaraj   +2 more
doaj   +1 more source

Histopathological Evidence of Neurodegenerative Pathology in Epilepsy: A Systematic Review

Annals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1530-1542, August 2026.
ABSTRACT Epilepsy affects > 50 million people worldwide and is associated with a disproportionate burden of cognitive impairment. Emerging evidence suggests that neurodegenerative proteinopathies, particularly hyperphosphorylated tau (p‐tau) and amyloid‐β (Aβ), may contribute to cognitive dysfunction in people with epilepsy (PWE), even in the absence ...
Syeda Amrah Hashmi, Aleksander Luniewski, Vanessa Smith, Matthew McCord, Jaideep Kapur, Mark Quigg, Catherine Joshua, Ifrah Zawar   +7 more
wiley   +1 more source

Robotic resection for splenic artery aneurysm associated with neurofibromatosis type 1: a case report

Journal of Medical Case Reports
Background Neurofibromatosis type 1 is an autosomal-dominant disease characterized by café-au-lait spots and neurofibromas, as well as various other symptoms in the bones, eyes, and nervous system.
Akihiko Ueda, Kenta Saito, Hiromichi Murase, Tomokatsu Kato, Hiroyuki Imafuji, Mamoru Morimoto, Ryo Ogawa, Hiroki Takahashi, Yoichi Matsuo, Shuji Takiguchi   +9 more
doaj   +1 more source

A Diagnostic Challenge: Unilateral Gingival Enlargement With Altered Tooth Eruption in a Paediatric Patient

Oral Diseases, EarlyView.
Luca Cricenti, Rossella Ninivaggi, Federico Liguori, Nicola Scotti, Allegra Comba, Patrizia Defabianis, Federica Romano   +6 more
wiley   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1934-1941, August 2026.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Neurofibromatosis type 1

Muller Journal of Medical Sciences and Research, 2013
P Chaitra, M Ramesh Bhat
doaj   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1879-1883, August 2026.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Interferon‐induced transmembrane (IFITM) proteins at the tumour–immune interface: A four‐axis framework for their context‐dependent roles

Clinical and Translational Medicine, Volume 16, Issue 8, August 2026.
Interferon‐induced transmembrane (IFITM) function in cancer is set by four contextual coordinates, not by family membership. Acute interferon input drives major histocompatibility complex class I (MHC‐I)‐linked immunogenicity; chronic input drives programmed death‐ligand 1 (PD‐L1)‐coupled resistance.
Zhe Liu, Jie Meng, Zengyan Lai, Fuqiu Li, Sha Lv   +4 more
wiley   +1 more source

Fast sleep spindles as a potential prognostic marker of developmental outcome in infantile epileptic spasms syndrome

Epilepsia Open, Volume 11, Issue 4, Page 1227-1236, August 2026.
Abstract Objective The presence or absence of sleep spindles in patients with infantile epileptic spasms syndrome (IESS) has been proposed as a potential predictor of cognitive outcome; however, the validity of this predictor remains uncertain.
Kento Ohta, Thomas Reuben, Tohru Okanishi, Go Yoshino, Tatsuo Hosoda, Kentaro Okada, Yoshihiro Maegaki   +6 more
wiley   +1 more source

DNA Hypomethylation Is Not Cell Intrinsically Toxic to Polycomb Repressive Complex 2 Deficient Malignant Peripheral Nerve Sheath Tumors

Genes, Chromosomes and Cancer, Volume 65, Issue 8, August 2026.
ABSTRACT Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas and the most common cause of disease‐associated death for neurofibromatosis type 1 (NF1) patients. In the context of NF1, MPNSTs develop from benign premalignant precursors and the transition to malignancy is typically accompanied by loss of the polycomb ...
Madilyn R. Stahl, Christopher M. Stehn, Zachary J. Seeman, Christopher Faulk, David A. Largaespada   +4 more
wiley   +1 more source