Results 31 to 40 of about 54,369 (243)

A case of solitary digital glomus tumor associated with neurofibromatosis type 1

SAGE Open Medical Case Reports, 2023
An association between glomus tumor and neurofibromatosis type 1 has been reported. It is characterized by multiple tumors and young age at onset. The early diagnosis of neurofibromatosis type 1 is important because it is associated with a high rate of ...
Koichiro Yanai, Tsuyoshi Tajika, Takuro Kuboi, Yuhei Hatori, Takahiro Umeyama, Shinsuke Arisawa, Ayaka Katayama, Takaaki Sano, Hirotaka Chikuda   +8 more
doaj   +1 more source

Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966

Orphanet Journal of Rare Diseases, 2020
Neurofibromatosis type 1 is a relatively common genetic disease, with a prevalence ranging between 1/3000 and 1/6000 people worldwide. The disease affects multiple systems with cutaneous, neurologic, and orthopedic as major manifestations which lead to ...
Christina Bergqvist, Amandine Servy, Laurence Valeyrie-Allanore, Salah Ferkal, Patrick Combemale, Pierre Wolkenstein, NF France Network   +6 more
doaj   +1 more source

Legius syndrome in fourteen families [PDF]

, 2010
Legius syndrome presents as an autosomal dominant condition characterized by café-au-lait macules with or without freckling and sometimes a Noonan-like appearance and/or learning difficulties.
Denayer, E, Oostenbrink, R., Legius, E, Eric Legius, Van Minkelen, R, Lakeman, P, Rick Van Minkelen, Beert, E, Van Spaendonck-Zwarts, KY, Goede-Bolder, A. de, Peltonen, S., Van den Ouweland, AM, Spaendonck-Zwarts, KY, Brice, Glen, Ellen Denayer, Van den Ouweland, Ans Mw, Chmara, Magdalena, Bolder, A, Peltonen, Sirkku, Mori, T., Rankin, J., van den Ouweland, Ans, Peltonen, S, Brice, G., Brice, G, Brems, H, Ouweland, A.M.W. van den, Van den Ouweland, Ans M. W., Rankin, Julia, Bever, Yolande, Brems, Hilde, Spaendonck-Zwarts, K.Y. van, Julia Rankin, Kievit, Anneke Maat, Oostenbrink, Rianne, Eline Beert, Karin Y Van Spaendonck-Zwarts, van Bever, Yolande, Keymolen, K., Anneke Maat Kievit, Kievit, A.M., Mangold, Elisabeth, Yolande van Bever, Lakeman, Phillis, Mori, T, Arja de Goede-Bolder, Ans MW Van den Ouweland, Ende, J. van der, Phillis Lakeman, Beert, E., Legius, E., Sirkku Peltonen, Keymolen, Kathelijn, Magdalena Chmara, van Bever, Y., van der Ende, J., Ishizaki, Takuma, Mangold, E, Yoshimura, Akihiko, Van Minkelen, Rick, Beert, Eline, Keymolen, K, Legius, Eric, van Minkelen, R., Ishizaki, T., Kievit, AM, Glen Brice, Rianne Oostenbrink, van Spaendonck-Zwarts, K.Y., de Goede-Bolder, A, Denayer, Ellen, Akihiko Yoshimura, Chmara, M., Yoshimura, A, Jenneke Van den Ende, van den Ouweland, A.M.W., Denayer, E., Van Spaendonck-Zwarts, Karin Y., Van den Ende, Jenneke, Lakeman, P., Mangold, E., de Goede-Bolder, A., van Bever, Y, Van den Ende, J, Yoshimura, A., de Goede-Bolder, Arja, Elisabeth Mangold, Takuma Ishizaki, Maat-Kievit, Anneke, Bever, Y. van, Oostenbrink, R, Hilde Brems, Maat Kievit, A, Mori, Tomoaki, Tomoaki Mori, Chmara, M, Kathelijn Keymolen, Minkelen, R. van, Rankin, J, Ishizaki, T, De Goede, Arja, Van Spaendonck, Karin Y., Van Minckelen, Rick, et al., Van Den Ouweland, Ans M.W.   +104 more
core   +1 more source

Clinical Masks of Neurofibromatosis Type 1

Архивъ внутренней медицины, 2022
Neurofibromatosis type 1 is the most common autosomal dominant tumor syndrome. The prevalence of the disease is 1 in 3000 people. Neurofibromatosis type 1 is characterized by the gradual appearance of signs of the disease and pronounced clinical ...
R. N. Mustafin
doaj   +1 more source

Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II] [PDF]

Genetics in Medicine, 2009
Neurofibromatosis 2 is a dominantly inherited tumor predisposition syndrome caused by mutations in the NF2 gene on chromosome 22. Affected individuals inevitably develop schwannomas typically affecting both vestibular nerves leading to deafness. Rehabilitation with brainstem implants is improving this outcome.
openaire   +3 more sources

The Molecular Pathogenesis, Diagnostic Criteria, Symptoms, Clinical Manifestations, and Gene-Based Therapeutic Approaches in Neurofibromatosis [PDF]

مجله دانشگاه علوم پزشکی گرگان, 2023
Neurofibromatosis (NF) is a heterogeneous group of tumor predisposition syndromes that lead to malignancy in the central and peripheral nervous systems.
Fatemeh Shahraki, Morteza Oladnabi
doaj  

Active Middle Ear Implant in a Patient with Neurofibromatosis Type 1 and Multiple Calvarial Defects: A Case Report

, 2022
Bony abnormalities, including sphenoid dysplasia and calvarial defects, are well recognized in patients with neurofibromatosis type 1. However, having multiple calvarial defects is rare.
Nakamura, Takeshi, Takeshi Nakamura, Kajihara, Kei, Ganaha, Akira, Keiji Matsuda, Tetsuya Tono, Matsuda, Keiji, Tono, Tetsuya, Akira Ganaha, Kei Kajihara   +9 more
core   +1 more source

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

Central Nervous System Tumors Among Infants in Canada: A Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) tumors in infants are rare, pose unique clinical challenges, and lack large‐scale evidence‐based data to guide management. This study seeks to describe CNS tumors in Canadian infants and to compare their outcomes with those of older children.
Samuel Sassine, Hallie Coltin, Sylvia Cheng, Lucie Lafay‐Cousin, Vanan Issai Magimairajan, Craig Erker, Stéphanie Vairy, Lynette Bowes, Adam Fleming, Donna Johnston, Sarah McKillop, Roona Sinha, Julie Bennett, Christina Coleman, Laura Wheaton, Shayna Zelcer, Samuele Renzi, Thai Hoa Tran   +17 more
wiley   +1 more source

Neurofibromatosis [PDF]

The Journal of Nervous and Mental Disease, 1921
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openaire   +1 more source