Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Thomas, Scholl"'
Autor:
Jeremy P. Cheadle, Thomas Scholl, Richard Wenstrup, Julian R. Sampson, Cynthia Frye, Valentina Moskvina, James Colley, Edward Rawstorne, Natalie Jones, Brant C. Hendrickson, Kristilyn Eliason, Anthony R. Dallosso, Duncan Azzopardi
Supplementary Tables S1 & S2 from Multiple Rare Nonsynonymous Variants in the Adenomatous Polyposis Coli Gene Predispose to Colorectal Adenomas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2faa7989d9549c33ee98d6950d46357
https://doi.org/10.1158/0008-5472.22374266
https://doi.org/10.1158/0008-5472.22374266
Autor:
Jeremy P. Cheadle, Thomas Scholl, Richard Wenstrup, Julian R. Sampson, Cynthia Frye, Valentina Moskvina, James Colley, Edward Rawstorne, Natalie Jones, Brant C. Hendrickson, Kristilyn Eliason, Anthony R. Dallosso, Duncan Azzopardi
It has been proposed that multiple rare variants in numerous genes collectively account for a substantial proportion of multifactorial inherited predisposition to a variety of diseases, including colorectal adenomas (CRA). We have studied this hypoth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a6ea15f7a9b874c8170615e5fc6b2bbd
https://doi.org/10.1158/0008-5472.c.6497375
https://doi.org/10.1158/0008-5472.c.6497375
Autor:
Michael Jekir, Claudio Lamartina, Marco Damilano, Thomas Scholl, Pedro Berjano, Fabio Galbusera, Ming Xu
Publikováno v:
European Spine Journal. 28:2198-2207
Purpose:The biomechanical performance of conventional multi-rod configurations (satellite rods and accessory rods) in pedicle subtraction osteotomies has been previously studied in vitro and using finite element models (FEM). Delta and delta-cross ro
Publikováno v:
Volume 1B: 38th Computers and Information in Engineering Conference.
Rod fracture and nonunion are common complications associated with pedicle subtraction osteotomies (PSO). Supplementary rods and interbody cage (IB) are added to reduce the primary rod stress. As supplementary rods, delta rods and cross rods have bee
Autor:
Kristen Zukosky, Manfred Boehm, Andrew B. Singleton, Guibin Chen, Fatoumata N'Go Yaro, Sungyoung Auh, Jonathan H. Nofziger, Mahamadou Traoré, Ke-lian Chen, Rick M. Fairhurst, Alice B. Schindler, Ali Saad, Guida Landouré, Modibo Sangare, Kenneth H. Fischbeck, Barrington G. Burnett, Katherine G. Meilleur, Brant C. Hendrickson, Hee‐Suk Lee, Katherine V. Bricceno, Evgenia Pak, Thomas Scholl, Nouhoum Bocoum, Koumba Bagayogo, Michael P. Fay, Mahamadou Diakite, Abdelbasset Amara, George G. Harmison, Youssoufa Maiga, Hammadoun Ali Sango, Fatoumata Daou, Amalia Dutra, Aldiouma Guindo, Christopher Grunseich, Yaya Ibrahim Coulibaly, Moez Gribaa
Publikováno v:
Annals of Neurology
Objective Spinal muscular atrophy (SMA) is one of the most common severe hereditary diseases of infancy and early childhood in North America, Europe, and Asia. SMA is usually caused by deletions of the survival motor neuron 1 (SMN1) gene. A closely r
Autor:
Matthias A. Neusser, Frank Eitner, Thomas Scholl, Claudia R.C. van Roeyen, Uta Kunter, Peter Boor, Tammo Ostendorf, Jürgen Floege, Lin Gan, Clemens D. Cohen, Luigi Villa, Bernd Denecke, Andrzej Konieczny
Publikováno v:
The Journal of Pathology. 229:672-684
Mesangioproliferative glomerulonephritis is the most common nephritis worldwide. We examined the effects of low- and high-dose telmisartan, an angiotensin II receptor blocker, in rats with progressive anti-Thy1.1 mesangioproliferative glomerulonephri
Autor:
Angela Leo, Viatcheslav R. Akmaev, Matthew S. Lebo, Brant C. Hendrickson, Thomas Scholl, Andrew M. Walker
Publikováno v:
The Journal of Molecular Diagnostics. 14:550-559
Array-based comparative genome hybridization (aCGH) is a powerful, data-intensive technique used to identify genomic copy number variation throughout the human genome. The use of aCGH clinically to identify pathogenic copy number aberrations is becom
Autor:
Robert J. Pomponio, Joan Keutzer, Paul Labrousse, Wuh-Liang Hwu, Ni-Chung Lee, Thomas Scholl, Yin-Hsiu Chien, Viatcheslav R. Akmaev
Publikováno v:
Molecular Genetics and Metabolism. 99:379-383
Pompe disease is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of lysosomal acid alpha-glucosidase (GAA) activity. This is the first LSD in which newborn screening has been shown to improve clinical outcomes. Newborn sc
Autor:
Markus Thomas Scholl, Thomas Lenarz, Patrick Saulnier, Timo Stöver, Melanie Wolf, Harm-Anton Klok, Verena Scheper, Thomas Perrier, Zuzana Kadlecova
Publikováno v:
Nanomedicine (London, England)
Nanomedicine (London, England), 2009, 4 (6), pp.623-35
Nanomedicine (London, England), 2009, 4 (6), pp.623-35
International audience; AIM: Treatment of sensorineural hearing loss could be advanced using novel drug carriers such as hyperbranched polylysine (HBPL) or lipid nanocapsules (LNCs). This study examined HBPL and LNCs for their cellular uptake and pos
Autor:
Kerry Flynn, Paul Labrousse, Andrew M. Walker, Christopher Sears, Bernice A Allitto, Colin Donohoe, Elizabeth M. Rohlfs, Elaine A Sugarman, Leonid Boguslavskiy, Brant C. Hendrickson, Thomas Scholl, Viatcheslav R. Akmaev
Publikováno v:
Journal of Medical Genetics
Background: Spinal muscular atrophy (SMA) is the most common inherited lethal disease of children. Various genetic deletions involving the bi-allelic loss of SMN1 exon 7 are reported to account for 94% of affected individuals. Published literature pl