Results 11 to 20 of about 24,619,681 (234)

Presymptomatic Diagnosis of Neurofibromatosis 2

Pediatric Neurology Briefs, 1996
The clinical spectrum of neurofibromatosis 2 (NF2) at the time of presymptomatic DNA diagnosis in at-risk first-degree relatives in five families were studied at the Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, and the ...
J Gordon Millichap
doaj   +2 more sources

Neurofibromatosis

Pediatric Neurology Briefs, 1987
LINK (Let’s Increase Neurofibromatosis Knowledge), the British Neurofibromatosis Association, organised a major European Symposium at Egham, Surrey, Feb 5-7, 1987, and clarified the distinguishing features of two syndromes with separate genetic markers ...
J Gordon Millichap
doaj   +2 more sources

Neurofibromatosis tipo 2: La historia de Lidia [PDF]

, 2020
La Neurofibromatosis tipo 2 (NF2) es una enfermedad minoritaria hereditaria caracterizada por la presentación progresiva de múltiples tumores, especialmente Schwanomas Vestibulares Bilaterales, a partir de la segunda década de vida.
Castellanos, Elisabeth, Serra Arenas, Eduard, Blanco Guillermo, Ignacio, Lázaro García, Conxi, Solanes, Ares   +4 more
core   +6 more sources

A Bilateral Vestibular Schwannoma is Not Always Related to Neurofibromatosis Type 2 [PDF]

, 2023
: Bilateral vestibular schwannomas are commonly diagnosed in patients affected by neurofibromatosis type 2, a genetic disease caused by a heterozygous mutation in the gene region encoding neurofibromin-2.
Andi Abeshi, Ferri, Gian Gaetano, Abeshi, Andi, Gian Gaetano Ferri   +3 more
core   +1 more source

Neurofibromatosis segmentaria, a propósito de un caso

, 2022
Introduction: neurofibromatosis is a genetic disorder that affects the growth of neural tissues, with an incidence of 1 in 4 000, with impact on life expectancy due its association with neoplasms and vascular disease.
Dufflart Ocampo, Juan David, Sáenz Corral, Claudia Ileana, Ruiz Gómez, Daniela, Vega Memija, María Elisa, Armendariz Barragán, Yonatan, Toussaint Caire, Sonia   +5 more
core   +1 more source

Molecular Insights into Neurofibromatosis 2

Neurobiology of Disease, 1997
David H. Gutmann
doaj   +3 more sources

Neurofibromatosis type 2 [PDF]

Neurology, 2007
A 45-year-old woman developed a gradual onset of sensorineural hearing loss in the left ear in 1984. Head CT scan with contrast demonstrated bilateral cerebellopontine angle (CPA) enhancing masses. She underwent a resection of the left CPA tumor with pathology confirming schwannoma. …
S, Sathornsumetee, A, DesJardins, D A, Reardon, J N, Rich, J J, Vredenburgh   +4 more
openaire   +2 more sources

Neurofibromatosis type 2 [PDF]

Journal of Medical Genetics, 2000
Neurofibromatosis type 2 is an often devastating autosomal dominant disorder which, until relatively recently, was confused with its more common namesake neurofibromatosis type 1. Subjects who inherit a mutated allele of the NF2 gene inevitably develop schwannomas, affecting particularly the superior vestibular branch of the 8th cranial nerve, usually ...
D G, Evans, M, Sainio, M E, Baser
openaire   +2 more sources

Neurofibromatosis type 2 [PDF]

The Lancet, 2009
Neurofibromatosis type 2 is an autosomal-dominant multiple neoplasia syndrome that results from mutations in the NF2 tumour suppressor gene located on chromosome 22q. It has a frequency of one in 25,000 livebirths and nearly 100% penetrance by 60 years of age.
Ashok R, Asthagiri, Dilys M, Parry, John A, Butman, H Jeffrey, Kim, Ekaterini T, Tsilou, Zhengping, Zhuang, Russell R, Lonser   +6 more
openaire   +2 more sources

Neurofibromatosis type 2 (NF2) [PDF]

, 2001
Review on Neurofibromatosis type 2 (NF2), with data on clinics, and the genes ...
Gusella, JF
core   +1 more source