Results 121 to 130 of about 38,242 (241)

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

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, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Corpus callosum tumor as the presenting symptom of neurofibromatosis type 1 in a patient and literature review [PDF]

, 2012
Introducción. La neurofibromatosis tipo 1 (NF1) es uno de los síndromes neurocutáneos más frecuentes y puede asociarse a tumores intracraneales en cualquier localización, pero excepcionalmente en el cuerpo calloso. Objetivos.
Pascual-Castroviejo, Ignacio, Pascual-Pascual, S. I., Velázquez-Fragua, Ramón, Viaño, Juan   +3 more
core   +1 more source

A Biochemically “Silent” Aortocaval Paraganglioma in a 19‐Year‐Old Female Causing Intraoperative Hypertensive Crisis: A Rare Case Report

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, Tooba Yaqoob, Eyman Farrukh, Abdullah Iftikhar, Muhammad Usman Ali Khan, Majeed Haq   +5 more
wiley   +1 more source

RECKLINGHAUSEN'S DISEASE IN А PREGNANT WOMAN: A CLINICAL CASE

Мать и дитя в Кузбассе
Recklinghausen's disease (neurofibromatosis) was first described in 1882. Neurofibromatosis (non-malignant) is classified as a phacomatosis according to the International Classification of Diseases X revision (Q85.0) and is included in the list of orphan
Владимир Кириллович Чайка, Ирина Тихоновна Говоруха, Виталина Васильевна Вустенко, Арина Александровна Земелько   +3 more
doaj  

Multiple Oral and Eyelid Nodules in a Pediatric Patient

Oral Diseases, EarlyView.
Caique Mariano Pedroso, Paulo Victor Mendes Penafort, Patrícia Vitor de Souza, Fernanda M. Pascon, Regina Maria Punppin‐Rontani, Beatriz Frolini Paulo Cherve, Rachel Marinho Robim, Regina Maria Holanda de Mendonça, Marcio Ajudarte Lopes, Pablo Agustin Vargas, Alan Roger Santos‐Silva   +10 more
wiley   +1 more source

Co‐Occurrence of Agminated Lentigines, Café‐Au‐Lait Macules, and Vitiligo: A Case Report and Literature Review

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

Minimal intervention for neurofibromatosis type I manifestations: A case report. [PDF]

Int J Surg Case Rep, 2023
Saad RH, Medra AM, Saadallah OA, El Mallah MM.   +3 more
europepmc   +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

Efficacy of denosumab therapy for neurofibromatosis type I with osteoporosis and history of fractures: a case report

Therapeutics and Clinical Risk Management, 2018
Masashi Uehara,1 Yukio Nakamura,1 Jun Takahashi,1 Mikio Kamimura,2 Fumihiro Isobe,1 Tomomi Yamaguchi,3,4 Tomoki Kosho,3,4 Shigeharu Uchiyama,1,5 Takako Suzuki,1 Hiroyuki Kato1 1Department of Orthopedic Surgery, Shinshu University School of Medicine ...
Uehara M, Nakamura Y, Takahashi J, Kamimura M, Isobe F, Yamaguchi T, Kosho T, Uchiyama S, Suzuki T, Kato H   +9 more
doaj  

Survival impact of second primary cutaneous and non‐cutaneous melanoma in melanoma survivors

Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 5, Page 823-834, May 2026.
In this US population‐based cohort study, melanoma survivors diagnosed with regional/distant‐stage SPCM or SPNCM had worse survival compared to those with a single melanoma. Abstract Background Melanoma survivors have a high risk of developing second primary neoplasms, both cutaneous melanoma (SPCM) and non‐cutaneous melanoma (SPNCM), but little is ...
Jingjing Xie, Maija Kiuru, Brad H. Pollock, Theresa H. M. Keegan   +3 more
wiley   +1 more source