Results 11 to 20 of about 54,369 (243)
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
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 (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
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
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SCOLIOSIS AND NEUROFIBROMATOSIS [PDF]
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
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Reliability of functional outcome measures in adults with neurofibromatosis 1 [PDF]
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
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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
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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
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Neurofibromatosis of the Esophagus
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
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Neurofibromatosis Type 1: Optimizing Management with a Multidisciplinary Approach [PDF]
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
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