PMC Articles for MedGen (Select 867380) - PMC

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Items: 13

Select item 108152921.

Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy

Juan J. Alban, Alejandra Arango-Ramirez, Jorge A. Olave-Rodriguez, Jose A. Nastasi-Catanese, Lisa X. Rodriguez

Cold Spring Harb Mol Case Stud. 2023 Dec; 9(4): a006291. doi: 10.1101/mcs.a006291

PMCID:: PMC10815292

Abstract Article PDF–1.8M

Select item 102408422.

Progressive metastatic infantile fibrosarcoma with multiple acquired mutations

Larissa V. Furtado, Marija Kacar, Roya Mostafavi, Zonggao Shi, Robert Ruiz, Selene C. Koo, Teresa Santiago, Blair Segers, Matthew J. Krasin, Zachary R. Abramson, Barry Shulkin, Lindsay J. Talbot, Alberto Pappo, Jessica Gartrell

Cold Spring Harb Mol Case Stud. 2023 Apr; 9(2): a006277. doi: 10.1101/mcs.a006277

PMCID:: PMC10240842

Abstract Article PDF–3.2M

Select item 66720243.

MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing

Minttu Marttila, Wathone Win, Fouad Al-Ghamdi, Hoda Z. Abdel-Hamid, David Lacomis, Alan H. Beggs

Cold Spring Harb Mol Case Stud. 2019 Aug; 5(4): a004184. doi: 10.1101/mcs.a004184

PMCID:: PMC6672024

Abstract Article PDF–3.4M

Select item 61041154.

Muscle‐restricted nuclear receptor interaction protein knockout causes motor neuron degeneration through down‐regulation of myogenin at the neuromuscular junction

Hsin‐Hsiung Chen, Li‐Kai Tsai, Kuan‐Yu Liao, Tung‐Chien Wu, Yun‐Hsin Huang, Yuan‐Chun Huang, Szu‐Wei Chang, Pei‐Yu Wang, Yeou‐Ping Tsao, Show‐Li Chen

J Cachexia Sarcopenia Muscle. 2018 Aug; 9(4): 771–785. Published online 2018 Apr 2. doi: 10.1002/jcsm.12299

PMCID:: PMC6104115

Abstract Article PDF–1.1M

Select item 112460585.

RNA-sequencing revisited data shed new light on wooden breast myopathy

Martina Bordini, Ziqing Wang, Francesca Soglia, Massimiliano Petracci, Carl J. Schmidt, Behnam Abasht

Poult Sci. 2024 Aug; 103(8): 103902. Published online 2024 May 25. doi: 10.1016/j.psj.2024.103902

PMCID:: PMC11246058

Abstract Article PDF–2.2M

Select item 89139646.

Effect of broiler breast abnormality and freezing on meat quality and metabolites assessed by ¹ H-NMR spectroscopy

F. Soglia, A.K. Silva, L.M. Lião, L. Laghi, M. Petracci

Poult Sci. 2019 Dec; 98(12): 7139–7150. Published online 2019 Dec 17. doi: 10.3382/ps/pez514

PMCID:: PMC8913964

Abstract Article PDF–1.9M

Select item 82020047.

Spaghetti Meat Abnormality in Broilers: Current Understanding and Future Research Directions

Giulia Baldi, Francesca Soglia, Massimiliano Petracci

Front Physiol. 2021; 12: 684497. Published online 2021 May 31. doi: 10.3389/fphys.2021.684497

PMCID:: PMC8202004

Abstract Article PDF–572K

Select item 72511148.

The effect of endurance training on levels of LINC complex proteins in skeletal muscle fibers of STZ-induced diabetic rats

Mehdi Bostani, Masoud Rahmati, Seyyed Ali Mard

Sci Rep. 2020; 10: 8738. Published online 2020 May 26. doi: 10.1038/s41598-020-65793-5

PMCID:: PMC7251114

Abstract Article PDF–2.0M

Select item 68080699.

Interobserver reliability of Diméglio and Pirani score and their subcomponents in the evaluation of idiopathic clubfoot in a clinical setting: a need for improved scoring systems

C. Bettuzzi, C. N. Abati, G. Salvatori, A. Zanardi, M. Lampasi

J Child Orthop. 2019 Oct 1; 13(5): 478–485. doi: 10.1302/1863-2548.13.190010

PMCID:: PMC6808069

Abstract Article PDF–760K

Select item 485088910.

Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma

Sarah Tannenbaum-Dvir, Julia L. Glade Bender, Alanna J. Church, Katherine A. Janeway, Marian H. Harris, Mahesh M. Mansukhani, Peter L. Nagy, Stuart J. Andrews, Vundavalli V. Murty, Angela Kadenhe-Chiweshe, Eileen P. Connolly, Andrew L. Kung, Filemon S. Dela Cruz

Cold Spring Harb Mol Case Stud. 2015 Oct; 1(1): a000471. doi: 10.1101/mcs.a000471