Results 61 to 70 of about 12,566 (189)

Neurofibromatosis Type‐1 Lung Disease Complicated by Pleuroparenchymal Fibroelastosis

Respirology Case Reports
Neurofibromatosis type‐1 is a rare autosomal dominant disease, due to the loss of the NF1 tumour suppressor gene. Here we present a case of a 28‐year‐old man with neurofibromatosis type‐1 lung disease and pleuroparenchymal fibroelastosis leading to ...
Abhir Nainani, Hugh Buzacott, Nicole Goh
doaj   +1 more source

Case Report: Somatic NF2 mutation in a vestibular schwannoma arising in a patient with neurofibromatosis type 1

Frontiers in Oncology
BackgroundNeurofibromatosis type 1 (NF1) and vestibular schwannoma are genetically and clinically distinct entities, with vestibular schwannomas classically associated with neurofibromatosis type 2.
Misa Shogaku, Hiroshi Yamada, Seiji Yamada, Ryota Fujinami, Shigeki Yamada, Motoki Tanikawa, Yusuke Okuno, Mitsuhito Mase   +7 more
doaj   +1 more source

Fatal Tension Hemothorax Combined With Exanguination: A Rare Complication of Neurofibromatosis

Clinical Practice and Cases in Emergency Medicine, 2019
Neurofibromatosis (NF) is a common autosomal dominant disorder that can be subdivided into type 1, type 2, and schwannomatosis. Patients with NF1 typically develop café-au-lait spots, scoliosis, and benign neurofibromas.
Roz Bidad, Caroline Hall, Eike Blohm
doaj   +1 more source

Neurofibromatosis type 1, sarcoidosis, and anterior uveitis: A simple coincidence or coexistence?—An interesting case report

Kerala Journal of Ophthalmology
Type 1 neurofibromatosis (NF1) is an autosomal dominant multisystem disease caused by a mutation in the neurofibromin 1 gene, which affects tissues derived from the neural crest.
Sujit Das
doaj   +1 more source

Neurofibromatosis

European Journal of Medical Research, 2009
Neurofibromatosis (NF) is one of the most common genetic disorders. Inherited in an autosomal dominant fashion, this phacomatosis is classified into two genetically distinct subtypes characterized by multiple cutaneous lesions and tumors of the ...
Gerber PA, Antal AS, Neumann NJ, Homey B, Matuschek C, Peiper M, Budach W, Bölke E   +7 more
doaj   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1934-1941, August 2026.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

NF1 Gene Novel Splicing Mutations in a Chinese Family with Neurofibromatosis Type 1: Case Series

Clinical, Cosmetic and Investigational Dermatology, 2022
Ting Wu,1,* Hao Yang,1,* Liuli Xu,1 Qing Huang,1 Qi He,1 Rong Wu,2 Yun-Zhu Mu1 1Department of Dermatology, the Affiliated Hospital of North Sichuan Medical College, Nanchong, People’s Republic of China; 2Pediatric department, Women’s and Children’
Wu T, Yang H, Xu L, Huang Q, He Q, Wu R, Mu YZ   +6 more
doaj  

Pulmonary arterial hypertension: A rare yet fatal complication of Neurofibromatosis Type 1

Respiratory Medicine Case Reports, 2019
Neurofibromatosis Type 1 (NF1) is an autosomal dominant genetic disorder with an incidence of approximately 1 in 4,000 live births [1]. Pulmonary arterial hypertension (PAH) is a rare but extremely life-threatening complication associated with NF1 ...
Melanie Rojas, Ateeq Mubarik, Elizabeth Ann Henderson, Fatima Agha, Lakshpaul Chauhan, Arshad Muhammad Iqbal, Ali Vaziri, Salman Muddassir   +7 more
doaj   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1879-1883, August 2026.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Interferon‐induced transmembrane (IFITM) proteins at the tumour–immune interface: A four‐axis framework for their context‐dependent roles

Clinical and Translational Medicine, Volume 16, Issue 8, August 2026.
Interferon‐induced transmembrane (IFITM) function in cancer is set by four contextual coordinates, not by family membership. Acute interferon input drives major histocompatibility complex class I (MHC‐I)‐linked immunogenicity; chronic input drives programmed death‐ligand 1 (PD‐L1)‐coupled resistance.
Zhe Liu, Jie Meng, Zengyan Lai, Fuqiu Li, Sha Lv   +4 more
wiley   +1 more source