نتایج جستجو برای: von recklinghausen

تعداد نتایج: 96693  

Journal: :Journal of medical genetics 1995
S E Mouridsen S A Sørensen

Neurofibromatosis is a devasting autosomal dominant disease which is extremely variable in its symptomatology, intensity, and progression. There have been numerous reports published about the physical aspects of neurofibromatosis, while psychological issues have been given little attention so far. The present article presents a review of the current knowledge concerning psychological aspects of...

1999
Joseph Merrick Frederick Treves

Joseph Carey Merrick, better known as the “Elephant Man,” suffered from an extreme condition initially diagnosed as Neurofibromatosis I. Recent research, however, has challenged that view and has attributed his massive disfigurement to the effects of Proteus syndrome, one of the most debilitating and ravaging diseases known to man. An analysis of the data and pathology from Merrick’s records, c...

Journal: :AJNR. American journal of neuroradiology 1991
D M Yousem J C Oberholtzer

Less than 25 cases of neurofibromas of the larynx associated with von Recklinghausen disease have been reported in the literature [1-1 0]. Most patients present with dyspnea, dysphagia, stridor, or hoarseness. We report a case of an asymptomatic 41-year-old man who had an incidentally discovered aryepiglottic fold neurofibroma. To our knowledge this is the first such case demonstrated by MR ima...

Journal: :Journal of medical genetics 1987
C G Mathew K Thorpe D F Easton C Carter C Wallis Z Wong A J Jeffreys B A Ponder

Linkage analysis has been undertaken in two British and three South African Indian families with Von Recklinghausen neurofibromatosis. Eleven polymorphic DNA probes were studied, including both random DNA sequences and candidate oncogenes. Although no evidence for linkage of these probes to the disease was detected, substantial exclusion regions were established on six of the chromosomes studied.

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