Results 51 to 60 of about 55,411 (257)

Anesthetic consideration in a preeclamptic parturient with Von Recklinghausen′s neurofibromatosis

Journal of Obstetric Anaesthesia and Critical Care, 2014
Neurofibromatosis is a multisystem genetic disorder that is associated with cutaneous, neurologic and orthopedic manifestations. Type 1 neurofibromatosis is characterized by dermatological lesions, such as benign neurofibromas of the skin and cafι-au ...
Tarandeep Singh, Sarla Hooda, Asha Anand, Kiranpreet Kaur, Renu Bala   +4 more
doaj   +1 more source

A novel NF2 splicing mutant causes neurofibromatosis type 2 via liquid-liquid phase separation with large tumor suppressor and Hippo pathway

iScience, 2022
Summary: Neurofibromatosis type 2 is an autosomal dominant multiple neoplasia syndrome and is usually caused by mutations in the neurofibromin 2 (NF2) gene, which encodes a tumor suppressor and initiates the Hippo pathway. However, the mechanism by which
Zexiao Jia, Shuxu Yang, Mengyao Li, Zhaoying Lei, Xue Ding, Mingjie Fan, Dixian Wang, Dajiang Xie, Hui Zhou, Yue Qiu, Qianqian Zhuang, Dan Li, Wei Yang, Xuchen Qi, Xiaohui Cang, Jing-Wei Zhao, Wenqi Wang, Aifu Lin, Qingfeng Yan   +18 more
doaj   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
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

Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis

Orphanet Journal of Rare Diseases, 2023
Objective To obtain updated estimates of the incidence and prevalence of neurofibromatosis type 1 (NF1) and type 2 (NF2). Study design We conducted a systematic search of NF1 and NF2 incidence or prevalence studies, in OVID Medline, OVID Embase, Web of ...
Tin-Suet Joan Lee, Meera Chopra, Raymond H Kim, Patricia C. Parkin, Carolina Barnett-Tapia   +4 more
doaj   +1 more source

The paradox of cancer genes in non-malignant conditions: implications for precision medicine. [PDF]

, 2020
Next-generation sequencing has enabled patient selection for targeted drugs, some of which have shown remarkable efficacy in cancers that have the cognate molecular signatures.
Adashek, Jacob J, Kato, Shumei, Kurzrock, Razelle, Lippman, Scott M   +3 more
core  

Bilateral diffuse choroidal hemangioma in Sturge Weber syndrome: a case report highlighting the role of multimodal imaging and a brief review of the literature [PDF]

, 2019
Purpose: The purpose of this paper is to present a patient with bilateral choroidal hemangioma in Sturge-Weber syndrome (SWS) and highlight multimodal imaging techniques for early detection and management of ocular alterations.
Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Amirikia, Anand, Arora, Avery, Barbazetto, Boltshauser, Comi, Comi, Cruciani, Cunha e Sá, Curcio, Fenicia, Ferry, Gass, Giovannini, Gottlieb, Griffiths, Gunduz, Harris, Iwach, Kardon, Kashani, Kaushik, Kissel, Kivela, Kjeka, Kranemann, Lambiase, Lindsey, Linsenmeier, Luke, Madreperla, Mannino, Mantelli, Marana Perez, Maruyama, Muci Mendoza, Nema, Parsa, Patrianakos, Paulus, Pearce, Phelps, Recupero, Riley, Rodriguez Bujaldon, Schirmer, Scott, Scott, Sharan, Shields, Shields, Shin, Shirley, Singh, Sturge, Sujansky, Sullivan, Tanwar, Thomas-Sohl, Waelchli, Walter, Witschel, Wong, Worster Drought, Zallmann, Ziemssen, Zografos, Zografos   +76 more
core   +1 more source

Management of Neurofibromatosis Type 2 [PDF]

Ear, Nose & Throat Journal, 1999
Neurofibromatosis type 2 (NF2), an as-yet incurable disease that predisposes patients to multiple intracranial and spinal tumors, requires a team approach to treatment, because of its multisystem nature. Included on the team should be neuro-otologists, neurosurgeons, ophthalmologists, geneticists, audiologists, speech therapists and other ...
M, Bance, R T, Ramsden
openaire   +2 more sources

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, EarlyView.
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

Oculomotor nerve palsy in neurofibromatosis type 2

Radiology Case Reports, 2022
Neurofibromatosis (NF) type 2 is a rare neurological, autosomal dominant and genetic disorder. It is caused by a mutation in the tumor suppressor gene, called NF2 gene. The disorder results in several benign tumors of the nervous system.
Aymen Shahab, MBBS, Hafsa Sardar, MBBS, Samaa Akhtar, MD, MSc, Anam Safdar, MBBS,FCPS, Muhammad Ismail Safi, MD, Izaz Ahmad, Faheemullah Khan, MBBS,MD   +6 more
doaj   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source