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Neurofibromatosis

open access: yesPediatric 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   +6 more sources

Neurofibromatosis [PDF]

open access: yesCancers, 2020
In this Special Issue of Cancer, a series of 10 papers (seven papers, three reviews) on Neurofibromatosis is presented by international leaders in this field of research [...]
Hovinga, Koos E., Temel, Yasin
core   +7 more sources

Neurofibromatosis [PDF]

open access: yesEuropean 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 peripheral and central nervous system.
Gerber PA   +7 more
core   +5 more sources

Neurofibromatosis [PDF]

open access: yesNeuropediatrics, 2006
The "neurofibromatoses" are a set of distinct genetic disorders that have in common the occurrence of tumors of the nerve sheath. They include NF1, NF2, and schwannomatosis. All are dominantly inherited with a high rate of new mutation and variable expression. NF1 includes effects on multiple systems of the body.
Grau Rubio, Claudia
openaire   +3 more sources

SCOLIOSIS AND NEUROFIBROMATOSIS [PDF]

open access: yesThe Journal of Bone and Joint Surgery. British volume, 1965
1. Analysis of eighty-one patients with neurofibromatosis showed that sixty-two (76 per cent) had café-au-lait markings; 12 per cent had significant spinal deformity. 2. Thirty-three examples of spinal deformity in neurofibromatosis showed a wide variety of patterns and severity of the adult curve.
J. C. Scott
openaire   +3 more sources

Reliability of functional outcome measures in adults with neurofibromatosis 1 [PDF]

open access: yesSAGE Open Medicine, 2018
Objectives: To determine intra-rater and inter-rater reliability of functional outcome measures in adults with neurofibromatosis 1 and to ascertain how closely objective and subjective measures align.
Rebecca L Mullin   +5 more
doaj   +2 more sources

A case of neurofibromatosis type 1 with neurofibromatosis type 1-related and neurofibromatosis type 1-unrelated tumors: a case report

open access: yesJournal of Medical Case Reports
Background Neurofibromatosis type 1 is an autosomal dominantly inherited disorder caused by pathogenic variants in the neurofibromatosis type 1 gene, resulting in a predisposition to multiple tumors.
Tabea I. Hartung   +3 more
doaj   +2 more sources

Neurofibromatosis

open access: yesSeminars in Oncology Nursing, 1992
The two types of neurofibromatosis are NF-1 and NF-2. Both cause abnormal cell growth in the central and peripheral nervous system. Each disease is inherited as an autosomal dominant trait, thus each child of an affected parent has a 50% chance of inheriting the disorder.
Evans, D. G R; id_orcid
openaire   +3 more sources

Neurofibromatosis of the Esophagus

open access: yesThe Annals of Thoracic Surgery, 2006
There have been previous reports suggesting an association between von Recklinghausen's neurofibromatosis and esophageal dysmotility. We report the first case of true Recklinghausen's neurofibromatosis of the esophagus leading to end-stage pseudoachalasia.
SICA, GIUSEPPE   +3 more
openaire   +4 more sources

Neurofibromatosis Type 1: Optimizing Management with a Multidisciplinary Approach [PDF]

open access: yesJournal of Multidisciplinary Healthcare
Shaan Lalvani, Rebecca M Brown Department of Neurology, The Mount Sinai Hospital, New York, NY, USACorrespondence: Rebecca M Brown, MD, PhD, The Mount Sinai Hospital, Department of Neurology, 1216 5th Avenue, New York, NY, 10029, USA, Tel +1 2128248579 ...
Lalvani S, Brown RM
doaj   +1 more source

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