Results 101 to 110 of about 38,064 (238)

Optic nerve sheath meningioma exhibits neural niche‐associated transcriptomic features and rare copy number variation‐linked evolution

Brain Pathology, EarlyView.
Optic nerve sheath meningiomas are typically NF2‐intact with few copy number alterations and are generally clinically indolent. Rare aggressive recurrences are associated with progressive accumulation of copy number variations, including CDKN2A/B homozygous deletion, 1q gain, and 14q loss.
Daisuke Sato, Satoru Miyawaki, Yu Sakai, Kenta Ohara, Yu Teranishi, Yudai Hirano, Motoyuki Umekawa, Takahiro Tsuchiya, Shotaro Ogawa, So Hirata, Hiroki Hongo, Hideaki Ono, Daisuke Komura, Tetsuo Ushiku, Shumpei Ishikawa, Nobuhito Saito   +15 more
wiley   +1 more source

The coexistence of neurofibromatosis type I and celiac disease in a child

The Turkish Journal of Gastroenterology, 2018
Cite this article as: Işık İA, Akbulut UE. The coexistence of neurofibromatosis type I and celiac disease in a child. Turk J Gastroenterol 2018; 29: 522-3.
İshak Abdurrahman Işık, Ulaş Emre Akbulut   +1 more
doaj   +1 more source

Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease. [PDF]

, 1996
Inherited pheochromocytomas are often part of familial syndromes, especially multiple endocrine neoplasia type 2 (MEN 2), retinal cerebellar hemangioblastomatosis [von Hippel-Lindau (vHL) disease] or neurofibromatosis type 1.
Crossey, P.A., Engelhardt, D., Frilling, A., Höppner, W., Maher, E.R., Mulligan, L., Ponder, B.A.J., Ritter, M.M.   +7 more
core   +1 more source

Novel drugs approved by the EMA, the FDA and the MHRA in 2025: A year in review

British Journal of Pharmacology, EarlyView.
Abstract In the 2025 novel drug mini‐review, one can take a full measure of the ingenuity that underlies current drug design and development, despite the year's smaller harvest (46 novel drugs) compared to 2024 (53) and 2023 (70). 54% of the novel drugs are first‐in‐class (FIC).
Andreas Papapetropoulos, Stavros Topouzis, Steve P. H. Alexander, Miriam M. Cortese‐Krott, Zsuzsanna Helyes, Kirill Martemyanov, Claudio Mauro, Nithyanandan Nagercoil, Reynold A. Panettieri Jr, Hemal H. Patel, Rainer Schulz, Barbara Stefanska, Gary J. Stephens, Nathalie Vergnolle, Xin Wang, Stephen Ward, Péter Ferdinandy   +16 more
wiley   +1 more source

Neurocognitive outcomes in neurofibromatosis clinical trials [PDF]

, 2016
Neurofibromatosis type 1 (NF1) is associated with neurocognitive deficits that can impact everyday functioning of children, adolescents, and adults with this disease.
de Blank, P, Gray, LS, Hanemann, CO, Hardy, KK, Janusz, J, Klein-Tasman, BP, Martin, S, Payne, JM, Semerjian, C, Solomon, SE, Thompson, HL, Toledo-Tamula, MA, Ullrich, N, Walsh, KS, Wolters, PL   +14 more
core   +2 more sources

Deep‐Intronic Variant in RUNX2 Causing Pseudo‐Exon Inclusion in a Family With Cleidocranial Dysplasia

Clinical Genetics, EarlyView.
A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic, Dorota Garczarczyk‐Asim, Julia Vodopiutz, Andreas R. Janecke   +3 more
wiley   +1 more source

Neurofibromatosis type I and multiple myeloma coexistence: A possible link?

Hematology Reports, 2018
The association between Neurofibromatosis type I (NF1) and multiple myeloma (MM), a plasma cell, dyscrasia is very rare. Here we put to the attention of the scientific community two new cases.
Fabrizio Accardi, Valentina Marchica, Cristina Mancini, Elena Maredi, Costantina Racano, Laura Notarfranchi, Davide Martorana, Paola Storti, Eugenia Martella, Benedetta Dalla Palma, Luisa Craviotto, Massimo De Filippo, Antonio Percesepe, Franco Aversa, Nicola Giuliani   +14 more
doaj   +1 more source

Validation of the German version of Infants and Toddlers Dermatology Quality of Life (InToDermQoL) Questionnaire

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Background and Objectives Skin diseases can greatly impair quality of life (QoL) of pediatric patients and their families. The Infants and Toddlers Dermatology Quality of Life questionnaire (InToDermQoL) is the first skin‐generic instrument assessing QoL in children ≤ 4 years, as reported by their caregiver. This study aimed to psychometrically
Juliane Traxler, Neuza da Silva Burger, Matthias Augustin, Hagen Ott, Sanna Hoffmann, Regina Fölster‐Holst, Maria Baumeister, Petra Staubach, Rachel Sommer   +8 more
wiley   +1 more source

Neonates born at term with periventricular haemorrhagic infarction: Risk factors and clinical presentation

Developmental Medicine &Child Neurology, EarlyView.
This case series describes infants born near term with periventricular hemorrhagic infarction (PVHI), highlighting seizures as a common early symptom. Neonatal complications during delivery and pro‐thrombotic genetic mutations were slightly more common. MRI‐classified involvement was predominantly in the caudate vein territory.
Aleksandra Zaykova, Jeroen Dudink, Floris Groenendaal, Maarten H. Lequin, Manon J.N.L. Benders, Maria Luisa Tataranno, Elise Roze   +6 more
wiley   +1 more source

Merlin Phosphorylation by p21-activated Kinase 2 and Effects of Phosphorylation on Merlin Localization [PDF]

, 2002
The Nf2 tumor suppressor gene product merlin is related to the membrane-cytoskeleton linker proteins of the band 4.1 superfamily, including ezrin, radixin, and moesin (ERMs). Merlin is regulated by phosphorylation in a Rac/cdc42-dependent fashion.
Eckman, Matthew S., Jacks, Tyler, Johnson, Kristen C., Kissil, Joseph L.   +3 more
core   +1 more source