Zobrazeno 1 - 6
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pro vyhledávání: '"J H, Tonsgard"'
Autor:
D A, Stevenson, P H, Birch, J M, Friedman, D H, Viskochil, P, Balestrazzi, S, Boni, A, Buske, B R, Korf, M, Niimura, E K, Pivnick, E K, Schorry, M P, Short, R, Tenconi, J H, Tonsgard, J C, Carey
Publikováno v:
American journal of medical genetics. 84(5)
Five percent of individuals with neurofibromatosis type 1 (NF1) present with congenital long bone pseudarthrosis (PA). In large series, 50-80% of patients with congenital long bone PA also have NF1. Very little information exists on the natural histo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3bd50bbdab402cdc26864c0302147e5f
https://pubmed.ncbi.nlm.nih.gov/10360395
https://pubmed.ncbi.nlm.nih.gov/10360395
Publikováno v:
American journal of medical genetics. 73(1)
Neurofibromatosis-1 (NF1) is an autosomal dominant disorder with marked variability of expression. Analysis of the NF1 gene (NF1) has detected a variety of mutations without any clear correlation with phenotype. However, deletions which remove all of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::23e5ab7f59924f498d6ec9c3c79702d2
https://pubmed.ncbi.nlm.nih.gov/9375928
https://pubmed.ncbi.nlm.nih.gov/9375928
Publikováno v:
Neurology. 52:1517-1517
To the Editor: Tonsgard et al.1 performed CT imaging in 91 adult (≥16 years) NF1 patients; paraspinal neurofibromas occurred in 18.7% of patients in the chest region and in 25.3% of patients in the abdominal or pelvic region. The majority of patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::410f2a5267f45f76e99138893157737b
https://doi.org/10.1212/wnl.52.7.1517-d
https://doi.org/10.1212/wnl.52.7.1517-d
Autor:
J H, Tonsgard, P R, Huttenlocher
Publikováno v:
Pediatrics. 68(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::37fdf409afab751287629d9c8113e2bf
https://pubmed.ncbi.nlm.nih.gov/7312481
https://pubmed.ncbi.nlm.nih.gov/7312481
Autor:
J H, Tonsgard
Publikováno v:
Laboratory investigation; a journal of technical methods and pathology. 60(4)
Reye's syndrome (RS) is characterized by alterations in the ultrastructure of liver mitochondria and a generalized impairment of mitochondrial enzyme activity. Serum from RS patients impairs ATP formation and oxidative phosphorylation of isolated liv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a4eeae50e2e7fdc11f9e08d5decabce2
https://pubmed.ncbi.nlm.nih.gov/2496274
https://pubmed.ncbi.nlm.nih.gov/2496274
Publikováno v:
Pediatrics. 69(1)
Plasma lactate level was measured in 21 patients with Reye's syndrome and was compared with neurologic state as rated on a simple coma scale. Significant elevations in plasma lactate, ranging from 2 to 15 mEq/liter, were noted in all patients. There
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::35c255aa6a1d18a5c1930324f3e590e0
https://pubmed.ncbi.nlm.nih.gov/7054762
https://pubmed.ncbi.nlm.nih.gov/7054762