Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Marvin Pietruszka"'
Autor:
Marvin Pietruszka, Zeshan Khokher, Mark A. Tarnopolsky, Daniel Darvish, Yadira Valles-Ayoub, Babak Darvish, Beth Stein, Tahseen Mozaffar, Rosangela Carbajo, Daniel No, Lucia Sandoval
Publikováno v:
Genetic Testing and Molecular Biomarkers. 17:376-382
Hereditary Inclusion Body Myopathy (HIBM, IBM2, MIM:600737) is an autosomal recessive adult onset progressive muscle wasting disorder. It is associated with the degeneration of distal and proximal muscles, while often sparing the quadriceps. The bifu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e599d663b35a9d04419d2df02895d2a3
https://doi.org/10.1089/gtmb.2012.0408
https://doi.org/10.1089/gtmb.2012.0408
Autor:
Zeshan Khokher, Emil D. Kakkis, Babak Darvish, Marvin Pietruszka, Rosangela Carbajo, Pedram Sinai, Saghi Esfandiarifard, Daniel Darvish, Daniel No, Yadira Valles-Ayoub
Publikováno v:
Genetic Testing and Molecular Biomarkers. 16:313-317
Hereditary inclusion body myopathy (HIBM) is a young-adult onset autosomal recessive disorder caused by a hypomorphic rate limiting enzyme of sialic acid biosynthesis. The enzyme is UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e16f5e54d7719f4c9d919aff8acb76e7
https://doi.org/10.1089/gtmb.2011.0146
https://doi.org/10.1089/gtmb.2011.0146
Autor:
Sarah L. Martinez, Saghi Esfandiarifard, Chai Saechao, Yadira Valles-Ayoub, Daniel Darvish, Marvin Pietruszka, Arman Haghighatgoo
Publikováno v:
Genetic testing and molecular biomarkers. 13(4)
The 5,10-methylenetetrahydrofolate reductase gene (MTHFR) 677CT polymorphism produces an elevation in plasma homocysteine concentrations when present in the homozygous state. Increased homocysteine levels have been associated with a greater risk for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f99945c2d0f798ce2c81f1cf55e82b6b
https://pubmed.ncbi.nlm.nih.gov/19594372
https://pubmed.ncbi.nlm.nih.gov/19594372
Autor:
Saghi Esfandiarifard, Chai Saechao, Yadira Valles-Ayoub, Marvin Pietruszka, Daniel Darvish, Mehran S. Neshat, Arman Haghighatgoo
Publikováno v:
Genetic testing. 12(1)
Hereditary inclusion body myopathy/distal myopathy with rimmed vacuoles is an adult onset autosomal recessive muscle-wasting disease common in people of Iranian-Jewish descent, due to the founder allelic variant GNE:p.M712T. High correlation of disea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c9e1f85d713a740e27848ac161d74e9
https://pubmed.ncbi.nlm.nih.gov/18373408
https://pubmed.ncbi.nlm.nih.gov/18373408
Autor:
Yadira Valles-Ayoub, Chai Saechao, Arman Haghighatgoo, Mehran S. Neshat, Saghi Esfandiarifard, Marvin Pietruszka, Daniel Darvish
Publikováno v:
Genetic Testing; Mar2008, Vol. 12 Issue 1, p101-109, 9p
Autor:
Marvin Pietruszka, Leon Barnes
Publikováno v:
Cancer. 40:1577-1585
The clinical and pathologic features of ten mammary sarcomas are discussed. Tumor size, contour, degree of cellular atypia, and mitotic activity were specifically evaluated to determine if they are important indices of clinical behavior. Results indi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d8dab113d0b94ed203114fa02bad682
https://doi.org/10.1002/1097-0142(197710)40:4<1577::aid-cncr2820400430>3.0.co
https://doi.org/10.1002/1097-0142(197710)40:4<1577::aid-cncr2820400430>3.0.co
Autor:
Marvin Pietruszka, Leon Barnes
Publikováno v:
Cancer. 41:1974-1983
A retrospective clinicopathologic evaluation of 42 patients with cystosarcoma phyllodes was undertaken to determine if tumor size, contour, degree of stromal atypia and mitotic activity were reliable indicators of clinical behavior. Excluding size, t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68cb936b7cc85ce966e5151610d78fe8
https://doi.org/10.1002/1097-0142(197805)41:5<1974::aid-cncr2820410543>3.0.co
https://doi.org/10.1002/1097-0142(197805)41:5<1974::aid-cncr2820410543>3.0.co
Autor:
Bruce S. Rabin, Marvin Pietruszka
Publikováno v:
Immunological communications. 8(2)
Forty-seven patients with various connective tissue disorders were studied to evaluate the spontaneous release of lymphocyte factors affecting the in vitro migration of guinea pig macrophages. In the assay used the lymphocytes from 8 patients produce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe33da1cf7464928a2b9f36b94b0b225
https://pubmed.ncbi.nlm.nih.gov/437824
https://pubmed.ncbi.nlm.nih.gov/437824
Autor:
Marvin Pietruszka, Leon Barnes
Publikováno v:
The American journal of surgical pathology. 2(4)
Rhabdomyosarcoma of the breast is a rare tumor that is characterized by its rapid growth, large size, and poor prognosis. It most often presents as a pure neoplasm and infrequently as the stromal component of a cystosarcoma phyllodes. The clinical an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d31d071d7a58e33b26bb56406b27857
https://pubmed.ncbi.nlm.nih.gov/216277
https://pubmed.ncbi.nlm.nih.gov/216277
Publikováno v:
JAMA: The Journal of the American Medical Association. 240:737
In Reply.— We agree with Dr Smoron that there was noobjectiveevidence of tumor response to chemotherapy in the case reported. We simply meant to indicate that the duration of survival of this patient for more than twice the mean survival reported i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1612981aaafa16d2d409de5f0e7ef74d
https://doi.org/10.1001/jama.1978.03290080027009
https://doi.org/10.1001/jama.1978.03290080027009