Results 131 to 140 of about 24,558 (240)

Paragangliomas/Pheochromocytomas: Clinically Oriented Genetic Testing

International Journal of Endocrinology, 2014
Paragangliomas are rare neuroendocrine tumors that arise in the sympathetic or parasympathetic nervous system. Sympathetic paragangliomas are mainly found in the adrenal medulla (designated pheochromocytomas) but may also have a thoracic, abdominal, or ...
Rute Martins, Maria João Bugalho
doaj   +1 more source

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

British Journal of Pharmacology, Volume 183, Issue 9, Page 1779-1813, May 2026.
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

Functional regulation of the Neurofibromatosis 2 tumor suppressor merlin [PDF]

, 2011
Neurofibromatosis 2 (NF2) is an autosomal dominant disorder manifested by the formation of multiple benign tumors of the nervous system. Affected individuals typically develop bilateral vestibular schwannomas which lead to deafness and balance disorders.
Pehrsson, Minja
core  

Global consensus on the management of melanin hyperpigmentation disorders

Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 5, Page 760-772, May 2026.
A global Delphi consensus of 10 dermatology experts established evidence‐based recommendations for melanin hyperpigmentation disorders, providing unified classification, photoprotection guidance and treatment algorithms. This framework harmonizes terminology and supports individualized management across diverse skin types and health systems.
Thierry Passeron, Seemal R. Desai, Marwa Abdallah, Firas Al‐Niaimi, Ncoza Dlova, Pearl E. Grimes, Jorge Ocampo‐Candiani, Rashmi Sarkar, Leihong Flora Xiang, Helio Amante Miot   +9 more
wiley   +1 more source

Unraveling Gene Interactions in Patients with Neurofibromatosis Type 1 [PDF]

The Journal of Pediatrics, 2015
Beth A, Pletcher, Caroline, Hayes-Rosen
openaire   +2 more sources

Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review

BMC Medical Genomics
About 5–10% of neurofibromatosis type 1 (NF1) patients exhibit large genomic germline deletions that remove the NF1 gene and its flanking regions. The most frequent NF1 large deletion is 1.4 Mb, resulting from homologous recombination between two low ...
Laurence Pacot, Milind Girish, Samantha Knight, Gill Spurlock, Vinod Varghese, Manuela Ye, Nick Thomas, Eric Pasmant, Meena Upadhyaya   +8 more
doaj   +1 more source

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System. [PDF]

Mol Genet Genomic Med
Carstens N, Mudau M, Essop F, Krause A.
europepmc   +1 more source

Ccl5 establishes an autocrine high-grade glioma growth regulatory circuit critical for mesenchymal glioblastoma survival [PDF]

, 2017
Gutmann, David H, Hambardzumyan, Dolores, Ma, Yu, Pan, Yuan, Smithson, Laura J   +4 more
core   +2 more sources

Ossification of Mandibular Central Giant Cell Granuloma (CGCG) in Neurofibromatosis Type 1 Patients. [PDF]

Cancer Diagn Progn
Friedrich RE, Kohlrusch FK, Hagel C, Gosau M.   +3 more
europepmc   +1 more source

Diagnoses of double heterozygous NF1 variants and dual RASopathy. [PDF]

Mol Cell Pediatr
Angelova-Toshkina D, Schanze D, Vaassen P, Frühwald MC, Rosenbaum T, Zenker M, Kuhlen M.   +6 more
europepmc   +1 more source