PMC Articles for MedGen (Select 79471) - PMC

Wedad Fallatah, Wei Cui, Erminia Di Pietro, Grace T. Carter, Brittany Pounder, Fabian Dorninger, Christian Pifl, Ann B. Moser, Johannes Berger, Nancy E. Braverman

Front Cell Dev Biol. 2022; 10: 886316. Published online 2022 Jul 11. doi: 10.3389/fcell.2022.886316

PMCID:: PMC9310236

Abstract Article PDF–4.6M

Select item 87655764.

A Novel Variant in the AGPS Gene Causes the Rare Rhizomelic Chondrodysplasia Punctata Type 3: A Case Report

Aiman M Shawli, Abdulaziz T Nazer, Yasir Khayyat, Mohammed G Alqurashi, Fahad Hakami

Cureus. 2021 Dec; 13(12): e20543. Published online 2021 Dec 20. doi: 10.7759/cureus.20543

PMCID:: PMC8765576

Abstract Article PDF–431K

Select item 84042275.

A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata

Adalgisa Cordisco, Elisabetta Pelo, Mariarosaria Di Tommaso, Roberto Biagiotti

Mol Genet Genomic Med. 2021 Aug; 9(8): e1733. Published online 2021 Jun 10. doi: 10.1002/mgg3.1733

PMCID:: PMC8404227

Abstract Article PDF–509K

Select item 82589496.

Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata

Tarik Luisman, Tara Smith, Shawn Ritchie, Karen E. Malone

Orphanet J Rare Dis. 2021; 16: 300. Published online 2021 Jul 6. doi: 10.1186/s13023-021-01889-z

PMCID:: PMC8258949

Abstract Article PDF–1.5M

Select item 79753197.

MR Imaging and MR Spectroscopy in Rhizomelic Chondrodysplasia Punctata

Angèle Viola, Sylviane Confort-Gouny, Jean-Philippe Ranjeva, Brigitte Chabrol, Charles Raybaud, Francisca Vintila, Patrick J. Cozzone

AJNR Am J Neuroradiol. 2002 Mar; 23(3): 480–483.

PMCID:: PMC7975319

Abstract Article PDF–119K

Select item 69119808.

Rhizomelic chondrodysplasia punctata: Role of EEG as a biomarker of impending epilepsy

Debopam Samanta

eNeurologicalSci. 2020 Mar; 18: 100218. Published online 2019 Dec 4. doi: 10.1016/j.ensci.2019.100218

PMCID:: PMC6911980

Abstract Article PDF–2.1M

Select item 67219189.

Rapid Cycle Deliberate Practice (RCDP) as a Method to Improve Airway Management Skills – A Randomized Controlled Simulation Study

Isabel T Gross, Dennrik G Abrahan, Ambuj Kumar, Julia Noether, Nicole A Shilkofski, Paula Pell, Laleh Bahar-Posey, MD

Cureus. 2019 Sep; 11(9): e5546. Published online 2019 Sep 1. doi: 10.7759/cureus.5546

PMCID:: PMC6721918

Abstract Article PDF–784K

Select item 639370210.

CdpR Inhibits CRISPR-Cas Adaptive Immunity to Lower Anti-viral Defense while Avoiding Self-Reactivity

Ping Lin, Qinqin Pu, Guanwang Shen, Rongpeng Li, Kai Guo, Chuanmin Zhou, Haihua Liang, Jianxin Jiang, Min Wu

iScience. 2019 Mar 29; 13: 55–68. Published online 2019 Feb 15. doi: 10.1016/j.isci.2019.02.005

PMCID:: PMC6393702

Abstract Article PDF–4.9M

Select item 484785911.

Structural and Molecular Mechanism of CdpR Involved in Quorum-Sensing and Bacterial Virulence in Pseudomonas aeruginosa

Jingru Zhao, Xiang Yu, Miao Zhu, Huaping Kang, Jinbiao Ma, Min Wu, Jianhua Gan, Xin Deng, Haihua Liang

PLoS Biol. 2016 Apr; 14(4): e1002449. Published online 2016 Apr 27. doi: 10.1371/journal.pbio.1002449

PMCID:: PMC4847859

Abstract Article PDF–4.1M

Select item 471939712.

Rare Case of Rhizomelic Chondrodysplasia Punctata

Yashwant Mahale, Vikram V. Kadu, Amit Chaudhari

J Orthop Case Rep. 2015 Jul-Sep; 5(3): 38–40. doi: 10.13107/jocr.2250-0685.303

PMCID:: PMC4719397

Abstract Article PDF–1.4M

Select item 463744713.

Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

Jessie C. Jacobsen, Emma Glamuzina, Juliet Taylor, Brendan Swan, Shona Handisides, Callum Wilson, Michael Fietz, Tessa van Dijk, Bart Appelhof, Rosamund Hill, Rosemary Marks, Donald R. Love, Stephen P. Robertson, Russell G. Snell, Klaus Lehnert

Case Rep Genet. 2015; 2015: 454526. Published online 2015 Oct 26. doi: 10.1155/2015/454526