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Items: 1 to 20 of 32

1.
Health economic evaluation of the Lund Integrated Medicines Management Model (LIMM) in elderly patients admitted to hospital
Ola Ghatnekar, Åsa Bondesson, Ulf Persson, Tommy Eriksson
BMJ Open. 2013; 3(1): e001563. Published online 2013 Jan 10. doi: 10.1136/bmjopen-2012-001563
PMCID:
PMC3553390
AbstractArticlePDF–309K
2.
Functions of LIM proteins in cell polarity and chemotactic motility
Bharat Khurana, Taruna Khurana, Nandkumar Khaire, Angelika A. Noegel
EMBO J. 2002 Oct 15; 21(20): 5331–5342. doi: 10.1093/emboj/cdf550
PMCID:
PMC129082
AbstractArticlePDF–605K
3.
Nucleotide sequence analysis of a cloned DNA fragment from human cells reveals homology to retrotransposons.
R M Flügel, B Maurer, H Bannert, A Rethwilm, P Schnitzler, G Darai
Mol Cell Biol. 1987 Jan; 7(1): 231–236. doi: 10.1128/mcb.7.1.231
PMCID:
PMC365061
SummaryPage BrowsePDF–1.0M
4.
Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant
Tonya Moss, Melanie May, Heather Flanagan-Steet, Raymond Caylor, Yong-Hui Jiang, Marie McDonald, Michael Friez, Allyn McConkie-Rosell, Richard Steet
Cold Spring Harb Mol Case Stud. 2021 Jun; 7(3): a006081. doi: 10.1101/mcs.a006081
PMCID:
PMC8208043
AbstractArticlePDF–4.9M
5.
The Transcriptional Consequences of Somatic Amplifications, Deletions, and Rearrangements in a Human Lung Squamous Cell Carcinoma
Lucy F Stead, Stefano Berri, Henry M Wood, Philip Egan, Caroline Conway, Catherine Daly, Kostas Papagiannopoulos, Pamela Rabbitts
Neoplasia. 2012 Nov; 14(11): 1075–1086. doi: 10.1593/neo.121380
PMCID:
PMC3514744
AbstractArticlePDF–3.8M
6.
The Diversity of the Limnohabitans Genus, an Important Group of Freshwater Bacterioplankton, by Characterization of 35 Isolated Strains
Vojtěch Kasalický, Jan Jezbera, Martin W. Hahn, Karel Šimek
PLoS One. 2013; 8(3): e58209. Published online 2013 Mar 7. doi: 10.1371/journal.pone.0058209
Correction in:
PLoS One. 2013; 8(9): 10.1371/annotation/4fe772bd-a77f-4142-92c2-256be161f263.
PMCID:
PMC3591437
AbstractArticlePDF–1.1M
7.
A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder
Eileen G. Daniels, Marielle Alders, Marco Lezzerini, Andrew McDonald, Marjolein Peters, Taco W. Kuijpers, Phillis Lakeman, Riekelt H. Houtkooper, Alyson W. MacInnes
Cold Spring Harb Mol Case Stud. 2019 Dec; 5(6): a004457. doi: 10.1101/mcs.a004457
PMCID:
PMC6913148
AbstractArticlePDF–5.6M
8.
AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant
Sarah U. Morton, Sanjay P. Prabhu, Hart G.W. Lidov, Jiahai Shi, Irina Anselm, Catherine A. Brownstein, Matthew N. Bainbridge, Alan H. Beggs, Sara O. Vargas, Pankaj B. Agrawal
Cold Spring Harb Mol Case Stud. 2017 Mar; 3(2): a001560. doi: 10.1101/mcs.a001560
PMCID:
PMC5334471
AbstractArticlePDF–2.7M
9.
Plasma Metabolome Analysis Suggests That L-Arginine Supplementation Affects Microbial Activity Resulting in a Decrease in Trimethylamine N-oxide—A Randomized Controlled Trial in Healthy Overweight Adults with Cardiometabolic Risk Factors
Laurianne Dimina, Marie Tremblay-Franco, Ambre Deveaux, Catherine Tardivel, Hélène Fouillet, Sergio Polakof, Jean-Charles Martin, François Mariotti
Curr Dev Nutr. 2023 Dec; 7(12): 102038. Published online 2023 Nov 20. doi: 10.1016/j.cdnut.2023.102038
PMCID:
PMC10754708
AbstractArticlePDF–1.9M
10.
Errors in medication history at hospital admission: prevalence and predicting factors
Lina M Hellström, Åsa Bondesson, Peter Höglund, Tommy Eriksson
BMC Clin Pharmacol. 2012; 12: 9. Published online 2012 Apr 3. doi: 10.1186/1472-6904-12-9
PMCID:
PMC3353244
AbstractArticlePDF–260K
11.
The phase transition of matrix recovery from Gaussian measurements matches the minimax MSE of matrix denoising
David L. Donoho, Matan Gavish, Andrea Montanari
Proc Natl Acad Sci U S A. 2013 May 21; 110(21): 8405–8410. Published online 2013 May 6. doi: 10.1073/pnas.1306110110
PMCID:
PMC3666686
AbstractArticlePDF–765K
12.
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy
Andrea Gangfuß, Philipp Rating, Tomas Ferreira, Andreas Hentschel, Adela Della Marina, Heike Kölbel, Albert Sickmann, Angela Abicht, Florian Kraft, Tobias Ruck, Johann Böhm, Anne Schänzer, Ulrike Schara-Schmidt, Teresa M. Neuhann, Rita Horvath, Andreas Roos
J Neuromuscul Dis. 2024; 11(2): 485–491. Prepublished online 2024 Jan 8. Published online 2024 Mar 5. doi: 10.3233/JND-230181
PMCID:
PMC10977349
AbstractArticlePDF–405K
13.
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation
Ronen Spiegel, Ann Saada, Padraig J Flannery, Florence Burté, Devorah Soiferman, Morad Khayat, Verónica Eisner, Eugene Vladovski, Robert W Taylor, Laurence A Bindoff, Avraham Shaag, Hanna Mandel, Ora Schuler-Furman, Stavit A Shalev, Orly Elpeleg, Patrick Yu-Wai-Man
J Med Genet. 2016 Feb; 53(2): 127–131. Published online 2015 Nov 11. doi: 10.1136/jmedgenet-2015-103361
PMCID:
PMC4752660
AbstractArticlePDF–556K
14.
Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome.
S B Bleyl, B R Mumford, V Thompson, J C Carey, T J Pysher, T K Chin, K Ward
Am J Hum Genet. 1997 Oct; 61(4): 868–872. doi: 10.1086/514879
PMCID:
PMC1715997
SummaryPage BrowsePDF–1.0M
15.
High CD206 levels in Hodgkin lymphoma‐educated macrophages are linked to matrix‐remodeling and lymphoma dissemination
Annekatrin Arlt, Frederike von Bonin, Thorsten Rehberg, Paula Perez‐Rubio, Julia C. Engelmann, Katharina Limm, Sarah Reinke, Christian Dullin, Xueni Sun, Rieke Specht, Markus Maulhardt, Franziska Linke, Gertrude Bunt, Wolfram Klapper, Martina Vockerodt, Jörg Wilting, Tobias Pukrop, Katja Dettmer, Wolfram Gronwald, Peter J. Oefner, Rainer Spang, Dieter Kube
Mol Oncol. 2020 Mar; 14(3): 571–589. Published online 2020 Jan 28. doi: 10.1002/1878-0261.12616
PMCID:
PMC7053241
AbstractArticlePDF–1.4M
16.
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness
Naomi Issler, Sara Afonso, Irith Weissman, Katrin Jordan, Alberto Cebrian-Serrano, Katrin Meindl, Eileen Dahlke, Konstantin Tziridis, Guanhua Yan, José M. Robles-López, Lydia Tabernero, Vaksha Patel, Anne Kesselheim, Enriko D. Klootwijk, Horia C. Stanescu, Simona Dumitriu, Daniela Iancu, Mehmet Tekman, Monika Mozere, Graciana Jaureguiberry, Priya Outtandy, Claire Russell, Anna-Lena Forst, Christina Sterner, Elena-Sofia Heinl, Helga Othmen, Ines Tegtmeier, Markus Reichold, Ina Maria Schiessl, Katharina Limm, Peter Oefner, Ralph Witzgall, Lifei Fu, Franziska Theilig, Achim Schilling, Efrat Shuster Biton, Limor Kalfon, Ayalla Fedida, Elite Arnon-Sheleg, Ofer Ben Izhak, Daniella Magen, Yair Anikster, Holger Schulze, Christine Ziegler, Martin Lowe, Benjamin Davies, Detlef Böckenhauer, Robert Kleta, Tzipora C. Falik Zaccai, Richard Warth
J Am Soc Nephrol. 2022 Apr; 33(4): 732–745. Published online 2022 Apr. doi: 10.1681/ASN.2021101312
PMCID:
PMC8970462
AbstractArticle
17.
The mechanism of repression of the myeloid-specific c-fms gene by Pax5 during B lineage restriction
Hiromi Tagoh, Richard Ingram, Nicola Wilson, Giorgia Salvagiotto, Alan J Warren, Deborah Clarke, Meinrad Busslinger, Constanze Bonifer
EMBO J. 2006 Mar 8; 25(5): 1070–1080. Published online 2006 Feb 16. doi: 10.1038/sj.emboj.7600997
PMCID:
PMC1409732
AbstractArticlePDF–240K
18.
Structural and Functional Dissection of the Heterocyclic Peptide Cytotoxin Streptolysin S
Douglas A. Mitchell, Shaun W. Lee, Morgan A. Pence, Andrew L. Markley, Joyce D. Limm, Victor Nizet, Jack E. Dixon
J Biol Chem. 2009 May 8; 284(19): 13004–13012. doi: 10.1074/jbc.M900802200
PMCID:
PMC2676033
AbstractArticlePDF–674K
19.
Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia
Mohammad R. Abdollahi, Ewan Morrison, Tamara Sirey, Zoltan Molnar, Bruce E. Hayward, Ian M. Carr, Kelly Springell, C. Geoff Woods, Mushtaq Ahmed, Louise Hattingh, Peter Corry, Daniela T. Pilz, Neil Stoodley, Yanick Crow, Graham R. Taylor, David T. Bonthron, Eamonn Sheridan
Am J Hum Genet. 2009 Nov 13; 85(5): 737–744. doi: 10.1016/j.ajhg.2009.10.007
PMCID:
PMC2775839
AbstractArticlePDF–1.1M
20.
Genetic predisposition to fracture non-union: a case control study of a preliminary single nucleotide polymorphisms analysis of the BMP pathway
Rozalia Dimitriou, Ian M Carr, Robert M West, Alexander F Markham, Peter V Giannoudis
BMC Musculoskelet Disord. 2011; 12: 44. Published online 2011 Feb 10. doi: 10.1186/1471-2474-12-44
PMCID:
PMC3053586
AbstractArticlePDF–380K

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