Results 121 to 130 of about 39,301 (221)

Audiological Characteristics in Vestibular Schwannoma Patients

World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 12, Issue 4, Page 401-409, August 2026.
ABSTRACT Objective Vestibular schwannoma (VS) is a benign tumor that originates from the Schwann cells of the vestibular nerve sheath in the internal auditory canal. This retrospective study collected data from patients with VS who underwent surgical treatment to identify their demographic characteristics and audiometric features.
Shan Zeng, Yi‐Yun Lou, Hui‐Qian Yu, Wei‐Dong Zhao, Wen‐Yan Li   +4 more
wiley   +1 more source

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

Clinical Genetics, Volume 110, Issue 2, Page 268-269, August 2026.
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

Nörofibromatozis tip 1: Kraniyal MRG Bulguları

Genel Tıp Dergisi, 2014
Amaç: Nörofibromatozis tip 1 NF1, von Recklinghausen hastalığı, periferal nörofibromatozis öncelikle nöral dokular olmak üzere birçok sistemi tutan nörokutanöz bir hastalıktır.
Mustafa Koplay, Alaaddin Nayman, Hasan Erdoğan, Mesut Sivri, Suat Keskin, Kazım Serhan Keleşoğlu   +5 more
doaj  

Selumetinib as a Target Therapy in Progressive Paediatric Low‐Grade Gliomas—Case Series (pLGG)

Journal of Paediatrics and Child Health, Volume 62, Issue 8, Page 1499-1508, August 2026.
ABSTRACT Background Optic pathway gliomas (OPGs) occur in 15%–20% of children with neurofibromatosis type 1 (NF1). While smaller gliomas may be only monitored, the current standard of care for symptomatic ones relies on chemotherapy, most commonly carboplatin and vincristine.
Laura Trapani, Giulia Gortani, Andrea Magnolato, Flora Maria Murru, Elisabetta Cattaruzzi, Laura Diplotti, Paola Michieletto, Silvia Giganti, Davide Zanon, Alessandra Maestro, Valentina Kiren, Egidio Barbi, Irene Bruno   +12 more
wiley   +1 more source

Mesenteric neurofibromatosis complicated by acute appendicitis: case report and review of the literature. [PDF]

Front Oncol
Fu J, Liu J, Sui X.
europepmc   +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  

Costotransverse screws for the treatment of dystrophic thoracic rotatory dislocation: illustrative case. [PDF]

J Neurosurg Case Lessons
Alassaf N.
europepmc   +1 more source

Abstracts

Molecular Oncology, Volume 20, Issue S1, Page 1-692, August 2026.
Abstracts submitted to the ‘EACR 2026 Congress: Innovative Cancer Science’, from 08–11 June 2026 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
wiley   +1 more source

Isolated Rectal Neurofibroma in the Absence of Neurofibromatosis: Report and Review of Molecular Implications. [PDF]

Eur J Case Rep Intern Med
Karam K, Charro K, Alirkilicarslan A, Morini A, Rakotobe J, Brousset E, Locher C.   +6 more
europepmc   +1 more source

An Isolated Colonic Neurofibroma Without Systemic Neurofibromatosis: A Rare Case Report and Literature Review. [PDF]

Am J Case Rep
Alessa HA, Yacoubi T, Almutawa A, Alshayeb A, Althunayyan A, Alqarfan A, Alsubaie SM, Alomar S, Aljalal F, Aledreesi A, Abdelgawad W.   +10 more
europepmc   +1 more source