PMC Articles for MedGen (Select 1642148) - PMC

Links from MedGen

Items: 1 to 20 of 70

<< First< Prev

Page of 4

Next >Last >>

Select item 104960711.

Identification of two novel COL3A1 variants in patients with vascular Ehlers‐Danlos syndrome

Won Young Heo, Shin Yi Jang, Taek Kyu Park, Chang‐Seok Ki, Jong‐Won Kim, Duk‐Kyung Kim, Ja‐Hyun Jang

Mol Genet Genomic Med. 2023 Sep; 11(9): e2240. Published online 2023 Jul 17. doi: 10.1002/mgg3.2240

PMCID:: PMC10496071

Article PubReader PDF–5.1M Cite

Select item 103798272.

Otological Features of Patients with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variants in CHST14 (mcEDS-CHST14)

Masayuki Kawakita, Satoshi Iwasaki, Hideaki Moteki, Shin-ya Nishio, Tomoki Kosho, Shin-ichi Usami

Genes (Basel) 2023 Jul; 14(7): 1350. Published online 2023 Jun 27. doi: 10.3390/genes14071350

PMCID:: PMC10379827

Article PubReader PDF–1.6M Cite

Select item 100923643.

Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system

Tomomi Yamaguchi, Shujiro Hayashi, Daisuke Hayashi, Takeshi Matsuyama, Norimichi Koitabashi, Kenichi Ogiwara, Masaaki Noda, Chiai Nakada, Shinya Fujiki, Akira Furutachi, Yasuhiko Tanabe, Michiko Yamanaka, Aki Ishikawa, Miyako Mizukami, Asako Mizuguchi, Kazumitsu Sugiura, Makoto Sumi, Hirokuni Yamazawa, Atsushi Izawa, Yuko Wada, Tomomi Fujikawa, Yuri Takiguchi, Keiko Wakui, Kyoko Takano, Shin‐Ya Nishio, Tomoki Kosho

Am J Med Genet A. 2023 Jan; 191(1): 37–51. Published online 2022 Oct 3. doi: 10.1002/ajmg.a.62982

PMCID:: PMC10092364

Article PubReader PDF–6.7M Cite

Select item 98995604.

Association of family history of schizophrenia and clinical outcomes in individuals with eating disorders

Ruyue Zhang, Ralf Kuja-Halkola, Andreas Birgegård, Henrik Larsson, Paul Lichtenstein, Cynthia M. Bulik, Sarah E. Bergen

Psychol Med. 2023 Jan; 53(2): 371–378. Published online 2021 Apr 30. doi: 10.1017/S0033291721001574

PMCID:: PMC9899560

Article PubReader PDF–154K Cite

Select item 98959495.

Integration of metabolomics and transcriptomics provides insights into enhanced osteogenesis in Ano5^Cys360Tyr knock-in mouse model

Hongyu Li, Sirui Liu, Congcong Miao, Yan Lv, Ying Hu

Front Endocrinol (Lausanne) 2023; 14: 1117111. Published online 2023 Jan 20. doi: 10.3389/fendo.2023.1117111

PMCID:: PMC9895949

Article PubReader PDF–4.0M Cite

Select item 96896266.

Clinical Presentation and Characteristics of the Upper Extremity in Patients with Musculocontractural Ehlers–Danlos Syndrome

Fumihiro Isobe, Masanori Hayashi, Rena Kobayashi, Manami Nakamura, Tomoki Kosho, Jun Takahashi

Genes (Basel) 2022 Nov; 13(11): 1978. Published online 2022 Oct 29. doi: 10.3390/genes13111978

PMCID:: PMC9689626

Article PubReader PDF–2.0M Cite

Select item 90823517.

Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study

Silvia Storoni, Sanne Treurniet, Alessandra Maugeri, Gerard Pals, Joost G. van den Aardweg, Stéphanie L. van der Pas, Mariet W. Elting, Peter Kloen, Dimitra Micha, Elisabeth Marelise W. Eekhoff

Front Endocrinol (Lausanne) 2022; 13: 869604. Published online 2022 Apr 25. doi: 10.3389/fendo.2022.869604

PMCID:: PMC9082351

Article PubReader PDF–1.0M Cite

Select item 89563208.

Antisense vicR-Loaded Dendritic Mesoporous Silica Nanoparticles Regulate the Biofilm Organization and Cariogenicity of Streptococcus mutans

Yuting Tian, Yue Zhang, Mengjiao Zhang, Xianchun Chen, Lei Lei, Tao Hu

Int J Nanomedicine. 2022; 17: 1255–1272. Published online 2022 Mar 21. doi: 10.2147/IJN.S334785

PMCID:: PMC8956320

Article PubReader PDF–15M Cite

Select item 89414859.

Comparison of Patients Infected With Delta Versus Omicron COVID-19 Variants Presenting to Paris Emergency Departments: A Retrospective Cohort Study

Donia Bouzid, Benoit Visseaux, Christian Kassasseya, Asma Daoud, Florent Fémy, Christelle Hermand, Jennifer Truchot, Sebastien Beaune, Nicolas Javaud, Olivier Peyrony, Anthony Chauvin, Prabakar Vaittinada Ayar, Arthur Bourg, Bruno Riou, Stephane Marot, Ben Bloom, Marine Cachanado, Tabassome Simon, Yonathan Freund, IMProving Emergency Care (IMPEC) FHU Collaborators Group , Maud Salmona, Jérôme Le Goff, David Veyer, Richard Chocron, Clément Augustin, Flore Rozenberg, Jean-François Meritet, Aurélie Schnuriger, Slim Fourati, Mehdi Khellaf, Audrey Coulomb, Frédéric Gindre, Khouloud Aloui, Hervé Jacquier, Xavier Eyer, Christophe Choquet, Vittiaroat Ing, Thomas Pavlovsky, Nadhira Houhou-Fidouh, Valentine Ferré, Luce Landraud, Hélène Goulet, Youri Yordanov, Laurence Berard, Alexandra Rousseau, Théophile Morel, Theophile Vieux, Simon Cahen, Melkir Saib

Ann Intern Med. 2022 Mar 15 : M22-0308. Published online 2022 Mar 15. doi: 10.7326/M22-0308

PMCID:: PMC8941485

Article PubReader PDF–176K Cite

Select item 870221510.

Gonosomal Mosaicism for a Novel COL5A1 Pathogenic Variant in Classic Ehlers-Danlos Syndrome

Lucia Micale, Thomas Foiadelli, Federica Russo, Luigia Cinque, Francesco Bassanese, Matteo Granatiero, Carmela Fusco, Salvatore Savasta, Marco Castori

Genes (Basel) 2021 Dec; 12(12): 1928. Published online 2021 Nov 29. doi: 10.3390/genes12121928

PMCID:: PMC8702215

Article PubReader PDF–1.3M Cite

Select item 863478411.

Context matters: Neighborhood disadvantage is associated with increased disordered eating and earlier activation of genetic influences in girls

Megan E. Mikhail, Sarah L. Carroll, D. Angus Clark, Shannon O’Connor, S. Alexandra Burt, Kelly L. Klump

J Abnorm Psychol. Author manuscript; available in PMC 2022 Nov 1.

Published in final edited form as: J Abnorm Psychol. 2021 Nov; 130(8): 875–885. doi: 10.1037/abn0000719

PMCID:: PMC8634784

Article PubReader PDF–490K Cite

Select item 859770312.

Clinical Characteristics Associated with Return Visits to the Emergency Department after COVID-19 Diagnosis

Iltifat Husain, James O’Neill, Rachel Mudge, Alicia Bishop, K. Alexander Soltany, Jesse Heinen, Chase Countryman, Dillon Casey, David Cline

West J Emerg Med. 2021 Nov; 22(6): 1257–1261. Published online 2021 Nov 5. doi: 10.5811/westjem.2021.9.52824

PMCID:: PMC8597703

Article PubReader PDF–378K Cite

Select item 824014113.

A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed Vascular Ehlers Danlos Syndrome

Sherene Shalhub, Peter H. Byers, Kelli L. Hicks, Kristofer Charlton-Ouw, Devin Zarkowsky, Dawn M. Coleman, Frank M. Davis, Ellen S. Regalado, Giovanni De Caridi, K. Nicole Weaver, Erin M. Miller, Marc L. Schermerhorn, Katie Shean, Gustavo Oderich, Mauricio Ribeiro, Cole Nishikawa, Christian-Alexander Behrendt, E. Sebastian Debus, Yskert von Kodolitsch, Richard J Powell, Melanie Pepin, Dianna M. Milewicz, Peter F. Lawrence, Karen Woo

J Vasc Surg. Author manuscript; available in PMC 2021 Jun 29.

Published in final edited form as: J Vasc Surg. 2019 Nov; 70(5): 1543–1554. Published online 2019 May 21. doi: 10.1016/j.jvs.2019.01.069

PMCID:: PMC8240141

Article PubReader PDF–2.2M Cite

Select item 791244114.

Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome

Friedrich Stock, Marcel Hanisch, Sarah Lechner, Saskia Biskup, Axel Bohring, Johannes Zschocke, Ines Kapferer-Seebacher

Biomolecules. 2021 Feb; 11(2): 149. Published online 2021 Jan 24. doi: 10.3390/biom11020149

PMCID:: PMC7912441

Article PubReader PDF–1.4M Cite

Select item 789434415.

Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen‐related genes

Marcus Fager Ferrari, Eva Zetterberg, Maria Rossing, Tina Manon‐Jensen, Martin Pehrsson, Morten A. Karsdal, Jens Lykkesfeldt, Eva Leinoe

Haemophilia. 2021 Jan; 27(1): e69–e77. Published online 2020 Nov 7. doi: 10.1111/hae.14195

PMCID:: PMC7894344

Article PubReader PDF–597K Cite

Select item 757275216.

Audit of Gastrointestinal Manifestations in Patients with Loeys–Dietz Syndrome and Vascular Ehlers–Danlos Syndrome

Xiao Jing Wang, Mary Babameto, Dusica Babovic-Vuksanovic, Juan M. Bowen, Michael Camilleri

Dig Dis Sci. Author manuscript; available in PMC 2022 Apr 1.

Published in final edited form as: Dig Dis Sci. 2021 Apr; 66(4): 1142–1152. Published online 2020 Apr 18. doi: 10.1007/s10620-020-06265-8

PMCID:: PMC7572752

Article PubReader PDF–751K Cite

Select item 754959017.

Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers–Danlos syndrome: The importance of phenotype‐guided genetic testing

Marco Ritelli, Valeria Cinquina, Marina Venturini, Marina Colombi

Mol Genet Genomic Med. 2020 Oct; 8(10): e1422. Published online 2020 Jul 28. doi: 10.1002/mgg3.1422

PMCID:: PMC7549590

Article PubReader PDF–1.0M Cite

Select item 741340118.

Factors associated with single-room assignment among patients admitted through the emergency department during influenza epidemics

Donia Bouzid, Benoit Visseaux, Anne Perozziello, Xavier Lescure, Xavier Duval, Enrique Casalino, Jean Christophe Lucet, on behalf of the ED influenza management study group

PLoS One. 2020; 15(8): e0237214. Published online 2020 Aug 7. doi: 10.1371/journal.pone.0237214

PMCID:: PMC7413401

Article PubReader PDF–705K Cite

Select item 736684919.

Detection and Genetic Characterization of Community-Based SARS-CoV-2 Infections — New York City, March 2020

Dena Bushman, Karen A. Alroy, Sharon K. Greene, Page Keating, Amanda Wahnich, Don Weiss, Preeti Pathela, Christy Harrison, Jennifer Rakeman, Gayle Langley, Suxiang Tong, Ying Tao, Anna Uehara, Krista Queen, Clinton R. Paden, Wendy Szymczak, Erika P. Orner, Priya Nori, Phi A. Lai, Jessica L. Jacobson, Harjot K. Singh, David P. Calfee, Lars F. Westblade, Ljiljana V. Vasovic, Jacob H. Rand, Dakai Liu, Vishnu Singh, Janice Burns, Nishant Prasad, CDC COVID-19 Surge Laboratory Group;, Jessica Sell

MMWR Morb Mortal Wkly Rep. 2020 Jul 17; 69(28): 918–922. Published online 2020 Jul 17. doi: 10.15585/mmwr.mm6928a5

PMCID:: PMC7366849

Article PubReader PDF–241K Cite

Select item 728608020.

Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct from Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy

Eric D Smith, Neal K Lakdawala, Nikolaos Papoutsidakis, Gregory Aubert, Andrea Mazzanti, Anthony C McCanta, Prachi P Agarwal, Patricia Arscott, Lisa M Dellefave-Castillo, Esther E Vorovich, Kavitha Nutakki, Lisa D Wilsbacher, Silvia G Priori, Daniel L Jacoby, Elizabeth M McNally, Adam S Helms

Circulation. Author manuscript; available in PMC 2021 Jun 9.

Published in final edited form as: Circulation. 2020 Jun 9; 141(23): 1872–1884. Published online 2020 May 6. doi: 10.1161/CIRCULATIONAHA.119.044934

PMCID:: PMC7286080

Article PubReader PDF–711K Cite

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 70

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity