PMC Articles for MedGen (Select 59799) - PMC

Links from MedGen

Items: 1 to 20 of 388

<< First< Prev

Page of 20

Select item 110025311.

Loss of GTF2I promotes neuronal apoptosis and synaptic reduction in human cellular models of neurodevelopment

Jason W. Adams, Annabelle Vinokur, Janaína S. de Souza, Charles Austria, Bruno S. Guerra, Roberto H. Herai, Karl J. Wahlin, Alysson R. Muotri

Cell Rep. Author manuscript; available in PMC 2024 Apr 9.

Published in final edited form as: Cell Rep. 2024 Mar 26; 43(3): 113867. Published online 2024 Feb 27. doi: 10.1016/j.celrep.2024.113867

PMCID:: PMC11002531

Article PDF–2.0M

Select item 109673792.

Syntaxin1A overexpression and pain insensitivity in individuals with 7q11.23 duplication syndrome

Michael J. Iadarola, Matthew R. Sapio, Amelia J. Loydpierson, Carolyn B. Mervis, Jill C. Fehrenbacher, Michael R. Vasko, Dragan Maric, Daniel P. Eisenberg, Tiffany A. Nash, J. Shane Kippenhan, Madeline H. Garvey, Andrew J. Mannes, Michael D. Gregory, Karen F. Berman

JCI Insight. 2024 Feb 22; 9(4): e176147. Published online 2024 Feb 22. doi: 10.1172/jci.insight.176147

PMCID:: PMC10967379

Article PDF–3.3M

Select item 109389023.

Wastewater-based surveillance as a tool for public health action: SARS-CoV-2 and beyond

Michael D. Parkins, Bonita E. Lee, Nicole Acosta, Maria Bautista, Casey R. J. Hubert, Steve E. Hrudey, Kevin Frankowski, Xiao-Li Pang

Clin Microbiol Rev. 2024 Mar; 37(1): e00103-22. Published online 2023 Dec 14. doi: 10.1128/cmr.00103-22

PMCID:: PMC10938902

Article PDF–4.6M

Select item 109366504.

A metagenomic prospective cohort study on gut microbiome composition and clinical infection in small bowel transplantation

Archana Madhav, Rachel Bousfield, Joana Pereira-Dias, Claire Cormie, Sally Forrest, Jacqueline Keane, Leanne Kermack, Ellen Higginson, Gordon Dougan, Harry Spiers, Dunecan Massey, Lisa Sharkey, Charlotte Rutter, Jeremy Woodward, Neil Russell, Irum Amin, Andrew Butler, Kayleigh Atkinson, Tom Dymond, Josefin Bartholdson Scott, Stephen Baker, Effrossyni Gkrania-Klotsas

Gut Microbes. 2024; 16(1): 2323232. Published online 2024 Mar 4. doi: 10.1080/19490976.2024.2323232

PMCID:: PMC10936650

Article PDF–4.1M

Select item 108913725.

Syndrome de Williams-Beuren: étude rétrospective d’une série de 11 cas du Centre Hospitalier Universitaire Mohammed VI de Marrakech

Fatima Zahrae Bouzid, Hanane Ait Hammou, Hassan Akallakh, Kenza Dafir, Mariam Tajir, Nisrine Aboussair

Pan Afr Med J. 2023; 46: 94. French. Publication en ligne 2023 déc. 1. DOI : 10.11604/pamj.2023.46.94.29604

PMCID:: PMC10891372

Article PDF–341K

Select item 108690336.

Williams-Beuren syndrome in pediatric T-cell acute lymphoblastic leukemia: A rare case report and review of literature

Rong Yang, Yuan Ai, Ting Bai, Xiao-Xi Lu, Guoqian He

Medicine (Baltimore) 2024 Feb 16; 103(7): e36976. Published online 2024 Feb 16. doi: 10.1097/MD.0000000000036976

PMCID:: PMC10869033

Article PDF–2.1M

Select item 108192197.

Use of Capsid Integrity-qPCR for Detecting Viral Capsid Integrity in Wastewater

Jessica L. Kevill, Kata Farkas, Nicola Ridding, Nicholas Woodhall, Shelagh K. Malham, Davey L. Jones

Viruses. 2024 Jan; 16(1): 40. Published online 2023 Dec 26. doi: 10.3390/v16010040

PMCID:: PMC10819219

Article PDF–1.1M

Select item 108053638.

Expanding a Wastewater-Based Surveillance Methodology for DNA Isolation from a Workflow Optimized for SARS-CoV-2 RNA Quantification

Kristina M. Babler, Mark E. Sharkey, Ayaaz Amirali, Melinda M. Boone, Samuel Comerford, Benjamin B. Currall, George S. Grills, Jennifer Laine, Christopher E. Mason, Brian Reding, Stephan Schürer, Mario Stevenson, Dušica Vidović, Sion L. Williams, Helena M. Solo-Gabriele

J Biomol Tech. 2023 Dec; 34(4): 3fc1f5fe.dfa8d906. Published online 2023 Dec 20. doi: 10.7171/3fc1f5fe.dfa8d906

PMCID:: PMC10805363

Article PDF–719K

Select item 107335969.

The results of genetic analysis and clinical outcomes after stent deployment in adult patients with isolated peripheral pulmonary artery stenosis

Misaki Kanezawa, Hiroto Shimokawahara, Masahiro Tsuji, Kazuki Suruga, Ayane Miyagi, Minako Marunaka, Takashi Mukai, Takahisa Kawaguchi, Ta-Yu Yang, Izumi Yamaguchi, Masao Nagasaki, Fumihiko Matsuda, Hiromi Matsubara

Eur Respir J. 2023 Dec; 62(6): 2301511. Published online 2023 Dec 21. doi: 10.1183/13993003.01511-2023

PMCID:: PMC10733596

Article PDF–620K

Select item 1072185810.

Neuronal Gtf2i deletion alters mitochondrial and autophagic properties

Ariel Nir Sade, Gilad Levy, Sari Schokoroy Trangle, Galit Elad Sfadia, Ela Bar, Omer Ophir, Inbar Fischer, May Rokach, Andrea Atzmon, Hadar Parnas, Tali Rosenberg, Asaf Marco, Orna Elroy Stein, Boaz Barak

Commun Biol. 2023; 6: 1269. Published online 2023 Dec 14. doi: 10.1038/s42003-023-05612-5

PMCID:: PMC10721858

Article PDF–9.1M

Select item 1068656211.

GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders

Alejandro López-Tobón, Reinald Shyti, Carlo Emanuele Villa, Cristina Cheroni, Patricio Fuentes-Bravo, Sebastiano Trattaro, Nicolò Caporale, Flavia Troglio, Erika Tenderini, Marija Mihailovich, Adrianos Skaros, William T. Gibson, Alessandro Cuomo, Tiziana Bonaldi, Ciro Mercurio, Mario Varasi, Lucy Osborne, Giuseppe Testa

Sci Adv. 2023 Dec 1; 9(48): eadh2726. Published online 2023 Nov 29. doi: 10.1126/sciadv.adh2726

PMCID:: PMC10686562

Article PDF–2.0M

Select item 1064074612.

Diagnosis of Crohn’s disease and ulcerative colitis using the microbiome

Da-Yeon Kang, Jong-Lyul Park, Min-Kyung Yeo, Sang-Bum Kang, Jin-Man Kim, Ju Seok Kim, Seon-Young Kim

BMC Microbiol. 2023; 23: 336. Published online 2023 Nov 11. doi: 10.1186/s12866-023-03084-5

PMCID:: PMC10640746

Article PDF–6.1M

Select item 1063039113.

Longitudinal dynamics of circulating miRNAs in a swine model of familial hypercholesterolemia during early atherosclerosis

Hadjer Namous, Christian Krueger, Yanping Cheng, Pedro H. C. Melo, Athanasios Peppas, Grzegorz L. Kaluza, William C. Stoffregen, Jess Reed, Hasan Khatib, Juan F. Granada

Sci Rep. 2023; 13: 19355. Published online 2023 Nov 7. doi: 10.1038/s41598-023-46762-0

PMCID:: PMC10630391

Article PDF–2.7M

Select item 1062468214.

Williams–Beuren syndrome shapes the gut microbiota metaproteome

Valeria Marzano, Stefano Levi Mortera, Pamela Vernocchi, Federica Del Chierico, Chiara Marangelo, Valerio Guarrasi, Simone Gardini, Maria Lisa Dentici, Rossella Capolino, Maria Cristina Digilio, Maddalena Di Donato, Iolanda Spasari, Maria Teresa Abreu, Bruno Dallapiccola, Lorenza Putignani

Sci Rep. 2023; 13: 18963. Published online 2023 Nov 3. doi: 10.1038/s41598-023-46052-9

PMCID:: PMC10624682

Article PDF–2.5M

Select item 1061546815.

Prenatal diagnosis of 7q11.23 microdeletion: Two cases report and literature review

Xin Lv, Xiao Yang, Linlin Li, Fagui Yue, Hongguo Zhang, Ruixue Wang

Medicine (Baltimore) 2023 Oct 27; 102(43): e34852. Published online 2023 Oct 27. doi: 10.1097/MD.0000000000034852

PMCID:: PMC10615468

Article PDF–642K

Select item 1046404516.

Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome

J. Shane Kippenhan, Michael D. Gregory, Tiffany Nash, Philip Kohn, Carolyn B. Mervis, Daniel P. Eisenberg, Madeline H. Garvey, Katherine Roe, Colleen A. Morris, Bhaskar Kolachana, Ariel M. Pani, Leah Sorcher, Karen F. Berman

J Neurodev Disord. 2023; 15: 29. Published online 2023 Aug 26. doi: 10.1186/s11689-023-09493-x

PMCID:: PMC10464045

Article PDF–2.5M

Select item 1045427617.

A case report of Williams syndrome with main clinical manifestation of hypercalcemia and gastrointestinal bleeding as the main clinical manifestations, and with an accompanying literature review

Hong Meng, Yue‐Xin Jia, Hui‐Min Yang, Xin Gao, Cha‐Gan‐Hu Li, Guo‐Yan Xin, Yu‐Min Wang

Brain Behav. 2023 Aug; 13(8): e3131. Published online 2023 Jun 20. doi: 10.1002/brb3.3131

PMCID:: PMC10454276

Article PDF–390K

Select item 1042206418.

Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses

Gang Peng, Qinghua Zhou, Hongyan Chai, Jiadi Wen, Hongyu Zhao, Hugh S. Taylor, Yong‐Hui Jiang, Peining Li

Mol Genet Genomic Med. 2023 Aug; 11(8): e2181. Published online 2023 Apr 4. doi: 10.1002/mgg3.2181

PMCID:: PMC10422064

Article PDF–1.0M

Select item 1034596119.

Resolving the Pathogenesis of Anaplastic Wilms Tumors through Spatial Mapping of Cancer Cell Evolution

Bahar Rastegar, Natalie Andersson, Alexandra Petersson, Jenny Karlsson, Subhayan Chattopadhyay, Anders Valind, Caroline Jansson, Geoffroy Durand, Patrik Romerius, Karin Jirström, Linda Holmquist Mengelbier, David Gisselsson

Clin Cancer Res. 2023 Jul 14; 29(14): 2668–2677. Published online 2023 May 4. doi: 10.1158/1078-0432.CCR-23-0311

PMCID:: PMC10345961

Article PDF–2.0M

Select item 1033244320.

Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review

Bianca Soares Carlotto, Desirée Deconte, Bruna Lixinski Diniz, Priscila Ramires da Silva, Paulo Ricardo Gazzola Zen, André Anjos da Silva

Rev Paul Pediatr. 2024; 42: e2022125. Published online 2023 Jul 10. doi: 10.1590/1984-0462/2023/41/2022125

PMCID:: PMC10332443

Article PDF–732K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 388

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity