Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Kent E. Kruckeberg"'
Autor:
Linnea M. Baudhuin, Laura K. Courteau, Ming Mai, Russell L. Swanson, Stephen N. Thibodeau, Amy J. French, Kent E. Kruckeberg, Jennifer L. Winters
Publikováno v:
The Journal of Molecular Diagnostics. 7:226-235
A significant fraction of hereditary nonpolyposis colorectal cancer cases with defective mismatch repair (ie, Lynch syndrome) have large genomic deletions or duplications in the mismatch repair genes, hMLH1 and hMSH2, which can be challenging to dete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a01c2377aa063c4f7062d650ad56e5d
https://doi.org/10.1016/s1525-1578(10)60549-1
https://doi.org/10.1016/s1525-1578(10)60549-1
Publikováno v:
Clinical Chemistry. 50:522-529
Background: Multiple endocrine neoplasia type 2 (MEN2) is a cancer syndrome with well-characterized causative mutations. Missense mutations in ∼15 codons of the RET gene have been linked to disease phenotypes in the vast majority of cases. These mi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bc2bb74c6c5b1e2a58074dd35697311
https://doi.org/10.1373/clinchem.2003.027128
https://doi.org/10.1373/clinchem.2003.027128
Autor:
Zhong-Sheng Ji, Tu T. Nguyen, Robert W. Mahley, Thomas B. Crotty, Kent E. Kruckeberg, Timothy O'Brien, Ian D. Hay, John F. O'Brien, Pamela S. Karnes
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 85:4354-4358
Splenomegaly with sea-blue histiocytes is not associated with dyslipidemia, except in severe cases of hypertriglyceridemia, Tangier disease, or lecithin cholesterol acyltransferase deficiency. We describe two kindreds in which the sea-blue histiocyte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90ab4f3119a06d9e02223fa0c3b0c92b
https://doi.org/10.1210/jcem.85.11.6981
https://doi.org/10.1210/jcem.85.11.6981
Autor:
Kent E. Kruckeberg, Dietrich Matern, Karen Snow Bailey, Piero Rinaldo, Angela L. Tauscher, Narasimhan Nagan
Publikováno v:
Molecular genetics and metabolism. 78(4)
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a clinically heterogeneous disorder. The clinical phenotype varies from fatal metabolic decompensation in early life to subtle adult onset, some patients remain asymptomatic. Two mutations (511C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2755ee8f8eceb28ee56a014b7039527
https://pubmed.ncbi.nlm.nih.gov/12706374
https://pubmed.ncbi.nlm.nih.gov/12706374
Publikováno v:
Human molecular genetics. 3(9)
This study addresses mechanism of instability of the FMR-1 (CGG)n-repeat, and investigates features which may distinguish between normal stable and fragile X unstable repeats. To achieve this, we have sequenced 178 alleles to analyze patterns of AGG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aba2d1096724541cb6e85876a8011ad8
https://pubmed.ncbi.nlm.nih.gov/7833909
https://pubmed.ncbi.nlm.nih.gov/7833909
Autor:
David J. Brandhagen, Kent E. Kruckeberg, William P. Baldus, Virgil F. Fairbanks, C I Smith, Stephen N. Thibodeau
Publikováno v:
Gastroenterology. 114:A1214
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d4aeecd34624cb4a986f39350b872a8c
https://doi.org/10.1016/s0016-5085(98)84928-7
https://doi.org/10.1016/s0016-5085(98)84928-7