Results 1 to 10 of about 49,367 (248)

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   +6 more sources

Neurofibromatosis [PDF]

Cancers, 2020
Neurofibromatosis, one of the most common genetic disorders, is a group of three conditions—Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis—that share some clinical features, such as the presence of cranial and spinal nerve sheet tumors ...
Temel, Yasin, Koos E. Hovinga, Yasin Temel, Hovinga, Koos E.   +3 more
core   +7 more sources

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

SAGE 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, John F Golding, Rebecca Smith, Victoria Williams, Mary Thomas, Rosalie E Ferner   +5 more
doaj   +2 more sources

Neurofibromatosis [PDF]

European 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 ...
Gerber PA, Bölke E, Matuschek C, Antal AS, Homey B, Peiper M, Budach W, Neumann NJ   +7 more
core   +5 more sources

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

Journal 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, Qais Karimi, Lan Kluwe, Said C. Farschtschi   +3 more
doaj   +2 more sources

SCOLIOSIS AND NEUROFIBROMATOSIS [PDF]

The 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.
J. C. Scott
core   +3 more sources

Neurofibromatosis

Neuropediatrics, 2006
Se describen las características del alumnado afectado por los diferentes tipos de ...
Grau Rubio, Claudia
core   +3 more sources

Neurofibromatosis

Seminars in Oncology Nursing, 1992
The neurofibromatoses have only recently been formally separated into the more common von Recklinghausen or type 1 neurofibromatosis (NF1) and the rarer 'central' or bilateral acoustic type 2 neurofibromatosis (NF2), following the National Institutes of ...
Evans, D. G R; id_orcid
core   +3 more sources

Neurofibromatosis of the esophagus

The 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 ...
SICA, GIUSEPPE, Sica G., Maynard, ND, Sujendran V., Maynard N. D., Warren B., Sica, G, Sujendran, V, Warren, B   +8 more
core   +4 more sources

Neurofibromatosis Type 1: Optimizing Management with a Multidisciplinary Approach

Journal 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   +2 more sources