Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Walter W. Noll"'
Autor:
Lynn Anne Burbidge, Michael J. Hall, Walter W. Noll, Richard J. Wenstrup, Thomas Scholl, Julia Reid, Dmitry Pruss, Cynthia Frye, Amie M. Deffenbaugh, Brian E. Ward
Publikováno v:
Cancer. 115:2222-2233
Background In women at increased risk for breast and ovarian cancer, the identification of a BRCA1/2 mutation has important implications for screening and prevention counseling. Uncertainty regarding the role of BRCA1/2 testing in high-risk women fro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c55296b6cf935740f99c8fd992d8b106
https://doi.org/10.1002/cncr.24200
https://doi.org/10.1002/cncr.24200
Autor:
Milhan Telatar, Wayne W. Grody, Ramaswamy K. Iyer, Kirk R. Thomas, Michael Jarvis, Walter W. Noll, Laurina O. Williams
Publikováno v:
The Journal of Molecular Diagnostics. 7:247-251
The lack of readily available, patient-derived materials for molecular genetic testing of many heterozygous or rare disorders creates a major impediment for laboratory proficiency and quality control procedures. The paucity of clinically derived muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ca22e4222bc4f7726ff2e94a384415d
https://doi.org/10.1016/s1525-1578(10)60551-x
https://doi.org/10.1016/s1525-1578(10)60551-x
Publikováno v:
The Annals of Family Medicine. 1:221-227
Maximizing the accuracy of human papillomavirus (HPV) detection from a single sample is important for clinical and research purposes. The purpose of this study was to determine whether cyclic hormonal variation, recent sexual intercourse, interval be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::190623fea2d210a6ac01766f4ea283b9
https://doi.org/10.1370/afm.90
https://doi.org/10.1370/afm.90
Autor:
Jonathan P Park, Arnold B. Hawk, Sarah L Ladd, Pamela Ely, Walter W. Noll, Sarah A Wojiski, Neil J Weiner, T.K. Mohandas
Publikováno v:
Cancer Genetics and Cytogenetics. 121:198-205
We report amplification of the MLL gene region (11q23→11qter) in a 72-year-old woman with myelodysplastic syndrome progressing to acute myelomonocytic leukemia and in a 51-year-old man with a history of hairy cell leukemia and secondary myelodyspla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b76125bf93dc5fcba8a19248afd3151
https://doi.org/10.1016/s0165-4608(00)00256-9
https://doi.org/10.1016/s0165-4608(00)00256-9
Autor:
Ta-Yuan Chang, Xialu Li, Lawrence Chan, Jonathan P. Park, Zhang-Mei Ma, Xin-Ying Yang, Catherine C.Y. Chang, Bo-Liang Li, Song Lin, Zhijun Duan, Walter W. Noll, T.K. Mohandas, Oneil Lee
Publikováno v:
Journal of Biological Chemistry. 274:11060-11071
Acyl-CoA:cholesterol acyltransferase (ACAT) plays important roles in cellular cholesterol homeostasis. Four human ACAT-1 mRNAs (7.0, 4.3, 3.6, and 2.8 kilobases (kb)) share the same short 5'-untranslated region (exon 1) and coding sequence (exons 2-1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e1af3762d62a749e9df23ec8800f82d
https://doi.org/10.1074/jbc.274.16.11060
https://doi.org/10.1074/jbc.274.16.11060
Autor:
Kay Woodruff, William E. Grizzle, Victor Weedn, Wayne W. Grody, Sanford A. Stass, Thomas D. Trainer, Walter W. Noll, Mark E. Sobel, Henry Travers
Publikováno v:
Archives of Pathology & Laboratory Medicine. 123:296-300
As recipients of tissue and medical specimens, pathologists and other medical specialists regard themselves as stewards of patient tissues and consider it their duty to protect the best interests of both the individual patient and the public. The ste
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8141dde3358ab8d392c0a6afaaec80bb
https://doi.org/10.5858/1999-123-0296-rpfuoh
https://doi.org/10.5858/1999-123-0296-rpfuoh
Autor:
James J. Filiano, Walter W. Noll, Alexander C. Mamourian, Arnold B. Hawk, Dorothy R. Belloni, T.K. Mohandas, John B. Moeschler, Richard A. Spellman, Jonathan P. Park
Publikováno v:
American Journal of Medical Genetics. 82:294-300
Interstitial duplications of proximal 15q containing the Prader-Willi syndrome/Angelman syndrome (PWS/AS) region have been found in patients with autism or atypical autism. In these cases with an abnormal phenotype, the duplications were maternally d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b488ca095f646cfa7ec741508d0358af
https://doi.org/10.1002/(sici)1096-8628(19990212)82:4<294::aid-ajmg4>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19990212)82:4<294::aid-ajmg4>3.0.co
Autor:
Valerie H. Hani, Arnold B. Hawk, Dorothy R. Belloni, T.K. Mohandas, Walter W. Noll, Jonathan P. Park, John B. Moeschler
Publikováno v:
American Journal of Medical Genetics. 78:134-139
Maternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a patern
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::49a86959487bcad348dc5551e8f23696
https://doi.org/10.1002/(sici)1096-8628(19980630)78:2<134::aid-ajmg7>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19980630)78:2<134::aid-ajmg7>3.0.co
Autor:
Lois M. Mulligan, Shin ichiro Takai, Magnus Nordenskjöld, Cristina Romei, Karin Frank-Raue, Furio Pacini, Isamu Nishisho, Bruno Niederle, Walter W. Noll, Hossein Gharib, Geoffrey N. Hendy, Hans Kristian Ploos van Amstel, Andrea Frilling, Monika Fink, Stephen N. Thibodeau, Charis Eng, André Lacroix, Gilbert J. Cote, Robert F. Gagel, Bruce A.J. Ponder, Jan Zedenius, Gilbert M. Lenoir, Friedhelm Raue, Feiyu Xue, I Schuffenecker, Deborah J. Marsh, Cornelis J.M. Lips, David Clayton, Bruce G. Robinson, Paul Komminoth
Publikováno v:
JAMA: The Journal of the American Medical Association. 276:1575-1579
Objective. —Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant disorder. The 3 recognized subtypes include MEN 2A, characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (pheo), and hyperparathyroidism (HPT); MEN 2B,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb4a3c46fb9294d6659b59348c5e4071
https://doi.org/10.1001/jama.276.19.1575
https://doi.org/10.1001/jama.276.19.1575
Autor:
Jane Widmer, Kate S. Wheeler, Samira Daniel, Ki-Han Kim, Joohun Ha, Nicole King, Susannah C. Schlichter, Nancy Nutile-McMenemy, Katherine S. Fassihi, Walter W. Noll, Lee A. Witters, Barbara E. Crute
Publikováno v:
Biochemical Journal. 316:915-922
Acetyl-CoA carboxylase (ACC), an important enzyme in fatty acid biosynthesis and a regulator of fatty acid oxidation, is present in at least two isoenzymic forms in rat and human tissues. Previous work has established the existence of a 265000 Da enz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::159066e84c56e78c712dd6ff03bb39a7
https://doi.org/10.1042/bj3160915
https://doi.org/10.1042/bj3160915