Výsledky vyhledávání - "R N, Schimke"

Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene

Autor: John F. Bradley, Debra L. Collins, H N Parrott, Paul G. Rothberg, R N Schimke

Publikováno v: American Journal of Medical Genetics. 87:163-167

We have identified a family segregating von Hippel-Lindau (VHL) disease with a previously unreported T547A mutation in exon 1 of the VHL gene that causes a Tyr112 to Asn missense alteration in the protein. The mutation was identified by nucleotide se

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0f6b2aed07ef786d164a28280566fb9a
https://doi.org/10.1002/(sici)1096-8628(19991119)87:2<163::aid-ajmg7>3.0.co

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Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: Evidence for failure of dystrophin production in dystrophin-competent myonuclei

Autor: H. G. Marks, L. Weiss, E P Hoffman, Corrado Angelini, H. Toriello, J. W. Taber, M. Cadaldini, J. Donnelly, S. M. Bernes, H. Stern, H. E. Neville, E. Barbosa, R. N. Schimke, S. Appleton, W. A. Marks, Elena Pegoraro, H. B. Wessel, C. Garcia, J. Carroll

Publikováno v: Scopus-Elsevier

We studied 19 symptomatic female carriers of the Duchenne muscular dystrophy (DMD) gene. Most of these dystrophinopathy patients had had an erroneous or ambiguous diagnosis prior to dystrophin immunofluorescence testing. We assessed clinical severity

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4260c79c0ec874ea6246ba821e9d50a1
https://doi.org/10.1212/wnl.45.4.677

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Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene

Autor: J F, Bradley, D L, Collins, R N, Schimke, H N, Parrott, P G, Rothberg

Publikováno v: American journal of medical genetics. 87(2)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3691c7977880fd4b4da8ff93fa79a822
https://pubmed.ncbi.nlm.nih.gov/10533030

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Congenital nonprogressive myopathy with Möbius and Robin sequence--the Carey-Fineman-Ziter syndrome: a confirmatory report

Autor: Debra L. Collins, J M Hiebert, R N Schimke

Publikováno v: American journal of medical genetics. 46(6)

Recently, we evaluated a 27-month-old boy with congenital generalized nonspecific myopathy, Mobius sequence, Robin sequence, and failure to thrive. We think the child has the same entity described by Carey, Fineman, and Ziter in 1982 [J Pediatr 101:3

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d04deb11048abfacb81ca88aa8a85588
https://pubmed.ncbi.nlm.nih.gov/8362917

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Case report: breast cancer in males--a genetic consideration

Autor: R L, Stephens, R N, Schimke

Publikováno v: The American journal of the medical sciences. 304(2)

For many years, it has been recognized that a portion of female breast cancer is inherited. More recently, the probable contribution of heredity to at least a subset of male breast cancer also has surfaced. This report, which describes affected broth

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::676304bc33ec0d4b346e4ab927038a9e
https://pubmed.ncbi.nlm.nih.gov/1323932

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