Filters








1,268 Hits in 2.1 sec

Estudio randomizado sobre continencia urinaria postprostatectomía radical con rehabilitación perineal kiesica previa

Ignacio Tobía, Mariano S. González, Pablo Martínez, Juan C. Tejerizo, Guillermo Gueglio, Oscar Damia, María I. Martí, Carlos A. Giudice
2008 Archivos españoles de urología  
Metodología de la Kinesiología Perineal: El objetivo de la kinesiología perineal fue fortalecer el piso pélvico, aumentar la compliance vesical y favorecer la sinergia vésico-esfinteriana.  ...  Esta zona es el lugar donde actúa la kinesioterapia perineal postoperatoria, mediante el fortalecimiento del mecanismo de continencia.  ... 
doi:10.4321/s0004-06142008000700005 pmid:18972914 fatcat:3sxeq5psjfgspd2pehuoqemewa

Cytokine-Induced Monocyte Characteristics in SLE

Zhe Zhang, Kelly Maurer, Juan C. Perin, Li Song, Kathleen E. Sullivan
2010 Journal of Biomedicine and Biotechnology  
The average H4ac at binding sites around TSSs had a distinctive pattern (Figure 3(c) ).  ...  (c) Figure 4 : 4 H4ac at histone genes. H2, H3, and H4 gene families had increased H4ac in SLE monocytes.  ... 
doi:10.1155/2010/507475 pmid:20625490 pmcid:PMC2896681 fatcat:7nkfzldkwfhinduhzqe273mb4y

Genome-wide analysis of interferon regulatory factor I binding in primary human monocytes

Lihua Shi, Juan C. Perin, Jeremy Leipzig, Zhe Zhang, Kathleen E. Sullivan
2011 Gene  
C) Expression data from tumor cell lines treated with interferon α2a were analyzed in the same manner. Four of the 10 cell lines were plotted.  ...  C) The distribution of the 3' and 5' end bases of sequencing reads around the 107 binding peaks, using the last base of 18bp motif as the reference point.  ... 
doi:10.1016/j.gene.2011.07.004 pmid:21803131 pmcid:PMC3167955 fatcat:nmjyte6csjauhg5tnr33ervruq

Clonal hematopoiesis in patients with dyskeratosis congenita

Nieves Perdigones, Juan C. Perin, Irene Schiano, Peter Nicholas, Jaclyn A. Biegel, Philip J. Mason, Daria V. Babushok, Monica Bessler
2016 American Journal of Hematology  
(1 cycle), 10 min at 95 °C (1 cycle), followed by 45 cycles of 95 °C for 15 sec and 60 °C for 1min.  ...  >G/c.2683C>G, p.  ... 
doi:10.1002/ajh.24552 pmid:27622320 pmcid:PMC5118079 fatcat:35rful3q25ckdexvk3f6ifv3wy

Efficient digest of high-throughput sequencing data in a reproducible report

Zhe Zhang, Jeremy Leipzig, Ariella Sasson, Angela M Yu, Juan C Perin, Hongbo M Xie, Mahdi Sarmady, Patrick V Warren, Peter S White
2013 BMC Bioinformatics  
(C) Duplication mapping (multiple reads mapped to the same genomic location).  ...  Frequency of regular nucleic acid bases in sequencing reads is compared to the background frequency of bases in reference sequences ( Figure 7B-C) .  ... 
doi:10.1186/1471-2105-14-s11-s3 pmid:24564231 pmcid:PMC3846741 fatcat:glvvga2zxjeotkdd4mvso26yde

Genetic Mosaicism in Calmodulinopathy

Lisa M. Wren, Juan Jiménez-Jáimez, Saleh Al-Ghamdi, Jumana Y. Al-Aama, Amnah Bdeir, Zuhair N. Al-Hassnan, Jyn L. Kuan, Roger Y. Foo, Franck Potet, Christopher N. Johnson, Miriam C. Aziz, Gemma L. Carvill (+9 others)
2019 Circulation Genomic and Precision Medicine  
Two novel mutations (E141K and E141V) impaired Ca2+ binding affinity to the C-domain of CaM.  ...  The Ca 2+ affinities (Kd) for the CaM C-domain are provided in the inset.  ...  Figure 3 . 3 E141K and E141V reduce Ca2+ binding affinity of the calmodulin C-lobe.  ... 
doi:10.1161/circgen.119.002581 pmid:31454269 pmcid:PMC6751013 fatcat:pbmgj7hx2bfpzlsd7n6qxh3xcy

CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics

Xiaowu Gai, Juan C Perin, Kevin Murphy, Ryan O'Hara, Monica D'arcy, Adam Wenocur, Hongbo M Xie, Eric F Rappaport, Tamim H Shaikh, Peter S White
2010 BMC Bioinformatics  
Recent studies have shown that copy number variations (CNVs) are frequent in higher eukaryotes and associated with a substantial portion of inherited and acquired risk for various human diseases. The increasing availability of high-resolution genome surveillance platforms provides opportunity for rapidly assessing research and clinical samples for CNV content, as well as for determining the potential pathogenicity of identified variants. However, few informatics tools for accurate and efficient
more » ... CNV detection and assessment currently exist. Results: We developed a suite of software tools and resources (CNV Workshop) for automated, genome-wide CNV detection from a variety of SNP array platforms. CNV Workshop includes three major components: detection, annotation, and presentation of structural variants from genome array data. CNV detection utilizes a robust and genotype-specific extension of the Circular Binary Segmentation algorithm, and the use of additional detection algorithms is supported. Predicted CNVs are captured in a MySQL database that supports cohort-based projects and incorporates a secure user authentication layer and user/admin roles. To assist with determination of pathogenicity, detected CNVs are also annotated automatically for gene content, known disease loci, and genebased literature references. Results are easily queried, sorted, filtered, and visualized via a web-based presentation layer that includes a GBrowse-based graphical representation of CNV content and relevant public data, integration with the UCSC Genome Browser, and tabular displays of genomic attributes for each CNV. Conclusions: To our knowledge, CNV Workshop represents the first cohesive and convenient platform for detection, annotation, and assessment of the biological and clinical significance of structural variants. CNV Workshop has been successfully utilized for assessment of genomic variation in healthy individuals and disease cohorts and is an ideal platform for coordinating multiple associated projects. Availability and Implementation: Available on the web at: http://sourceforge.net/projects/cnv
doi:10.1186/1471-2105-11-74 pmid:20132550 pmcid:PMC2827374 fatcat:hvn4wu2eynfmpoagaam4yodb7m

Mitochondrial genome sequence analysis: A custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy

Hongbo M Xie, Juan C Perin, Theodore G Schurr, Matthew C Dulik, Sergey I Zhadanov, Joseph A Baur, Michael P King, Emily Place, Colleen Clarke, Michael Grauer, Jonathan Schug, Avni Santani (+6 others)
2011 BMC Bioinformatics  
doi:10.1186/1471-2105-12-402 pmid:22011106 pmcid:PMC3234255 fatcat:glo7kvy3averbpl2fl556ewjsy

Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes

Daria V. Babushok, Hongbo M. Xie, Jacquelyn J. Roth, Nieves Perdigones, Timothy S. Olson, Joshua D. Cockroft, Xiaowu Gai, Juan C. Perin, Yimei Li, Michele E. Paessler, Hakon Hakonarson, Gregory M. Podsakoff (+3 others)
2013 British Journal of Haematology  
B and C. SNP-A genotyping at two different time points for two aAA patients are shown in B and C respectively. Genotyping results at each time point are shown as two scatter plots.  ...  The patient in Panel C had multiple acquired CN-LOH clones involving both 6p and 6q at diagnosis of aAA.  ... 
doi:10.1111/bjh.12603 pmid:24116929 pmcid:PMC3986350 fatcat:u7xwxz7i2jf6vbc7ne7a2g4g2i

Emergence of clonal hematopoiesis in the majority of patients with acquired aplastic anemia

Daria V. Babushok, Nieves Perdigones, Juan C. Perin, Timothy S. Olson, Wenda Ye, Jacquelyn J. Roth, Curt Lind, Carine Cattier, Yimei Li, Helge Hartung, Michele E. Paessler, Dale M. Frank (+8 others)
2015 Cancer Genetics  
C.  ...  4 p.Leu294.fs n/a 58.01 None 18-25% X 15349337 C/T 42 36% Splicing PIGA 2 ?  ... 
doi:10.1016/j.cancergen.2015.01.007 pmid:25800665 pmcid:PMC4433860 fatcat:xueobkgfgjeyhc46hscozxucc4

NMNAT1 mutations cause Leber congenital amaurosis

Marni J Falk, Qi Zhang, Eiko Nakamaru-Ogiso, Chitra Kannabiran, Zoe Fonseca-Kelly, Christina Chakarova, Isabelle Audo, Donna S Mackay, Christina Zeitz, Arundhati Dev Borman, Magdalena Staniszewska, Rachna Shukla (+17 others)
2012 Nature Genetics  
(c) Cellular NAD + levels.  ...  M1 = NMNAT1 mutation (c.25G>A, p.Val9Met). M2 = GJB2 mutation (c.71G>A , p.Trp24*). A representative sequence trace for the M1 mutation is shown.  ... 
doi:10.1038/ng.2361 pmid:22842227 pmcid:PMC3454532 fatcat:raibapitjzapboajtsgg76bfqe

Reconstruction and Simulation of Neocortical Microcircuitry

Henry Markram, Eilif Muller, Srikanth Ramaswamy, Michael W. Reimann, Marwan Abdellah, Carlos Aguado Sanchez, Anastasia Ailamaki, Lidia Alonso-Nanclares, Nicolas Antille, Selim Arsever, Guy Antoine Atenekeng Kahou, Thomas K. Berger (+70 others)
2015 Cell  
L 4 B P L 4 N G C L 4 L B C L 4 N B C L 4 S B C L 4 C h C L 5 T T P C 1 L5TT PC2 L 5 U T P C L 5 S T P C L 5 M C L 5 B T C L 5 D B C L 5 B P L 5 N G C L 5 L B C L 5 N B C L 5 S B C L 5 C h C L6 TP C _L  ...  C L4 LB C L4 N BC L4 SB C L4 C hC L5 TT PC 1 L5 TT PC 2 L5 U TP C L5 ST PC L5 M C L5 BT C L5 D BC L5 BP L5 N G C L5 LB C L5 N BC L5 SB C L5 C hC L6 TP C L1 L6 TP C L4 L6 U TP C L6 IP C L6 BP C L6 M C  ... 
doi:10.1016/j.cell.2015.09.029 pmid:26451489 fatcat:7bmjfkxcp5ambelg2dz6qjz2xe

Integrated digital pathology at scale: A solution for clinical diagnostics and cancer research at a large academic medical center

Peter J Schüffler, Luke Geneslaw, D Vijay K Yarlagadda, Matthew G Hanna, Jennifer Samboy, Evangelos Stamelos, Chad Vanderbilt, John Philip, Marc-Henri Jean, Lorraine Corsale, Allyne Manzo, Neeraj H G Paramasivam (+20 others)
2021 JAMIA Journal of the American Medical Informatics Association  
Objective Broad adoption of digital pathology (DP) is still lacking, and examples for DP connecting diagnostic, research, and educational use cases are missing. We blueprint a holistic DP solution at a large academic medical center ubiquitously integrated into clinical workflows; researchapplications including molecular, genetic, and tissue databases; and educational processes. Materials and Methods We built a vendor-agnostic, integrated viewer for reviewing, annotating, sharing, and quality
more » ... urance of digital slides in a clinical or research context. It is the first homegrown viewer cleared by New York State provisional approval in 2020 for primary diagnosis and remote sign-out during the COVID-19 (coronavirus disease 2019) pandemic. We further introduce an interconnected Honest Broker for BioInformatics Technology (HoBBIT) to systematically compile and share large-scale DP research datasets including anonymized images, redacted pathology reports, and clinical data of patients with consent. Results The solution has been operationally used over 3 years by 926 pathologists and researchers evaluating 288 903 digital slides. A total of 51% of these were reviewed within 1 month after scanning. Seamless integration of the viewer into 4 hospital systems clearly increases the adoption of DP. HoBBIT directly impacts the translation of knowledge in pathology into effective new health measures, including artificial intelligence–driven detection models for prostate cancer, basal cell carcinoma, and breast cancer metastases, developed and validated on thousands of cases. Conclusions We highlight major challenges and lessons learned when going digital to provide orientation for other pathologists. Building interconnected solutions will not only increase adoption of DP, but also facilitate next-generation computational pathology at scale for enhanced cancer research.
doi:10.1093/jamia/ocab085 pmid:34260720 pmcid:PMC8344580 fatcat:apvod6cnfvc2jiool57uxh3u5i

Page 540 of The Dublin Review Vol. 30, Issue [page]

1878 The Dublin Review  
C.), The Children’s Garland from the Best Poets, noticed, 246. Pecci (Cardinal), The Church and Civilization, noticed, 505. Périn (M.  ...  Governor-General of the Netherlands, 386; he sends a deputation to Orange, 387 ; who rejects all overtures of peace, 388 ; Philip’s mind embittered against Don Juan, 389; the States declare Don Juan to  ... 

Carcinoma escamoso de uretra metastático

Josep Mª Gaya Sopena, Juan A. Peña González, M. Pascual Queralt, Juan Caparrós Sariol, Juan Palou Redorta, Humberto Villavicencio Mavrich
2009 Actas Urológicas Españolas  
Pascual Queralt , Juan Caparrós Sariol, Juan Palou Redorta, Humberto Villavicencio Mavrich Servicio de Urología. Fundació Puigvert. Barcelona, España. Nota clínica  ...  Al interrogatorio refería empeoramien-Carcinoma escamoso de uretra metastático Josep Mª Gaya Sopena, Juan A. Peña González, M.  ... 
doi:10.4321/s0210-48062009000600018 fatcat:t66vgtjs7vfllhmkqsqncgydju
« Previous Showing results 1 — 15 out of 1,268 results