Results 111 to 120 of about 23,942 (228)

[Neurofibromatosis type 2 (central neurofibromatosis or bilateral acoustic neuromas, vestibular schwannomas): from phenotype to gene].

Lijecnicki vjesnik, 2007
Neurofibromatosis type 2 (NF2) is an autosomal dominant disease that predisposes to bilateral vestibular schwannomas (neurinomas), other central and peripheral nervous system tumours (multiple meningeomas and neurofibromas) and ocular abnormalities (cataract).
Zlatko, Sabol, Ljiljana, Kipke-Sabol, Pavle, Miklić, Sanja, Hajnsek-Propadalo, Filip, Sabol   +4 more
openaire   +1 more source

Neurofibromatosis type 1: Modeling CNS dysfunction [PDF]

, 2012
Neurofibromatosis type 1 (NF1) is the most common monogenic disorder in which individuals manifest central nervous system (CNS) abnormalities. Affected individuals develop glial neoplasms (optic gliomas, malignant astrocytomas) and neuronal dysfunction ...
Gutmann, David H, Parada, Luis F, Ratner, Nancy, Silva, Alcino J   +3 more
core   +2 more sources

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Knockdown of HMGA2 regulates the level of autophagy via interactions between MSI2 and Beclin1 to inhibit NF1-associated malignant peripheral nerve sheath tumour growth

Journal of Experimental & Clinical Cancer Research, 2019
Background Malignant peripheral nerve sheath tumours (MPNSTs) are sarcomas of Schwann cell lineage origin that occur sporadically or in association with the inherited syndrome, neurofibromatosis type 1 (NF1).
Kang Yang, Wei Guo, Tingting Ren, Yi Huang, Yu Han, Hongliang Zhang, Jie Zhang   +6 more
doaj   +1 more source

How Far Can we Go? Managing Moyamoya Syndrome in a 3‐Year‐Old With Thalassemia Major: A Rare Pediatric Case From Nepal

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Moyamoya syndrome (MMS) is a rare progressive cerebrovascular disorder causing stenosis of intracranial arteries and collateral vessel formation. Pediatric presentations often include ischemic strokes, and coexisting Thalassemia Major may worsen vascular outcomes.
Kshitiz Parajuli, Abhisek Jha, Aron Neupane, Shristi Gupta, Nischal Timsina, Sagar Bhagat, Raja Babu Gupta, Anand Sah, Anup Katwal   +8 more
wiley   +1 more source

An anti-Ras function of neurofibromatosis type 2 gene product (NF2/Merlin).

Journal of Biological Chemistry, 1994
Previously, we have cloned a candidate for the 595-amino acid neurofibromatosis type 2 tumor suppressor called NF2 or Merlin, with striking sequence similarity in its N-terminal half to an F-actin-binding protein family called TERM, which includes talin, ezrin, radixin, and moesin (Trofatter, J. A., MacCollin, M. M., Rutter, J. L., Murrell, J.
A, Tikoo, M, Varga, V, Ramesh, J, Gusella, H, Maruta   +4 more
openaire   +2 more sources

Breathless and Beyond: Anterior Mediastinal Malignant Peripheral Nerve Sheath Tumor as a Rare Neurofibromatosis Type 1 Manifestation

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Malignant peripheral nerve sheath tumors (MPNSTs) can rarely present as anterior mediastinal masses in patients with neurofibromatosis type 1 (NF1), causing respiratory symptoms and diagnostic challenges. Multidisciplinary evaluation, including biopsy and imaging, is essential for diagnosis, with surgical resection as the primary treatment ...
Muhammad Hassan Raza, Hamza Asif, Sadia Anjum, Zaira Shahid, Moosa Mubarika, Abdulsattar Anjum, Hassan Abdullah Shakeel, Rejina Chhetri, Muneeb Khawar   +8 more
wiley   +1 more source

CHARACTERISTICS OF INDIVIDUALS UNDERGOING PANEL GENETIC TESTING FOR PRIMARY BRAIN TUMORS [PDF]

, 2018
Background. Currently, there are no genetic testing guidelines for patients with a primary brain tumor (PBT). This population is largely understudied in terms of the family history, tumor grade, pathology, and their relation to genetic contribution.
Azam, Sarah
core   +1 more source

Rare Association Between Neurofibromatosis Type 1 and Adrenocortical Carcinoma

Clinical Case Reports, Volume 14, Issue 3, March 2026.
Axial slice CT abdomen pelvis with portal venous contrast, revealing a well circumscribed 22 × 20 × 22 mm left adrenocortical adenocarcinoma (ACC) in a patient with neurofibromatosis type 1 (NF1). ABSTRACT Although rare, adrenocortical carcinoma (ACC) should be considered in individuals with neurofibromatosis type 1 (NF1) presenting with adrenal ...
Zachary Pluim, Joseph Do Woong Choi, Benedict Kakala, Jessica Wong, Roderick Clifton‐Bligh, Mark Sywak, Julie Howle   +6 more
wiley   +1 more source

Unraveling a Hidden Mass: A 10‐Year Mystery of Groin Swelling Reveals an Unexpected Diagnosis of Neurofibroma

Clinical Case Reports, Volume 14, Issue 3, March 2026.
Unravelling a Hidden Mass: Case of 70‐year‐old female presenting with 10‐year history of painless groin swelling. Intraoperative discovery revealed an unexpected neurofibroma. ABSTRACT This case presents the perplexing journey of a 70‐year‐old woman with a decade‐long history of painless, gradually enlarging left‐side groin swelling.
Alaa Tajeldeen Habeeb Abdallah, Zainab Hassan Nooreldayem, Rami Elsiddig Abdelkhalig, Elwasila Hamid, Nouh Saad Mohamed, Ayman Ahmed, Emmanuel Edwar Siddig   +6 more
wiley   +1 more source