PMC Articles for MedGen (Select 1675450) - PMC

Select item 32851901.

Functional Desaturase Fads1 (Δ5) and Fads2 (Δ6) Orthologues Evolved before the Origin of Jawed Vertebrates

Luís Filipe Costa Castro, Óscar Monroig, Michael J. Leaver, Jonathan Wilson, Isabel Cunha, Douglas R. Tocher

PLoS One. 2012; 7(2): e31950. Published online 2012 Feb 22. doi: 10.1371/journal.pone.0031950

PMCID:: PMC3285190

Select item 101305152.

Investigating the role of FADS family members in breast cancer based on bioinformatic analysis and experimental validation

Tingting Zhao, Pingping Gao, Yanling Li, Hao Tian, Dandan Ma, Na Sun, Ceshi Chen, Yi Zhang, Xiaowei Qi

Front Immunol. 2023; 14: 1074242. Published online 2023 Apr 12. doi: 10.3389/fimmu.2023.1074242

PMCID:: PMC10130515

Abstract Article PDF–17M

Select item 83285653.

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.

Gianina Ravenscroft, Joshua S Clayton, Fathimath Faiz, Padma Sivadorai, Di Milnes, Rob Cincotta, Phillip Moon, Ben Kamien, Matt Edwards, Martin Delatycki, Phillipa J Lamont, Sophelia HS Chan, Alison Colley, Alan Ma, Felicity Collins, Lucinda Hennington, Teresa Zhao, George McGillivray, Sondhya Ghedia, Katherine Chao, Anne O’Donnell-Luria, Nigel G Laing, Mark R Davis

J Med Genet. Author manuscript; available in PMC 2021 Sep 1.

Published in final edited form as: J Med Genet. 2021 Sep; 58(9): 609–618. Published online 2020 Oct 15. doi: 10.1136/jmedgenet-2020-106901

PMCID:: PMC8328565

Abstract Article PDF–1.3M

Select item 69245664.

Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum

Chaya Murali, Dong Li, Katheryn Grand, Hakon Hakonarson, Elizabeth Bhoj

Am J Med Genet A. Author manuscript; available in PMC 2019 Dec 20.

Published in final edited form as: Am J Med Genet A. 2019 Apr; 179(4): 655–658. Published online 2019 Feb 4. doi: 10.1002/ajmg.a.61060

PMCID:: PMC6924566

Abstract Article PDF–49K

Select item 67522665.

Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies

Elizabeth Quinlan-Jones, Jenny Lord, Denise Williams, Sue Hamilton, Tamas Marton, Ruth Y. Eberhardt, Gabriele Rinck, Elena Prigmore, Rebecca Keelagher, Dominic J. McMullan, Eamonn R. Maher, Matthew E. Hurles, Mark D. Kilby

Genet Med. 2019; 21(5): 1065–1073. Published online 2018 Oct 8. doi: 10.1038/s41436-018-0298-8

PMCID:: PMC6752266

Abstract Article PDF–377K

Select item 61742876.

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy

Thi Tuyet Mai Nguyen, Yoshiko Murakami, Kristen M. Wigby, Nissan V. Baratang, Justine Rousseau, Anik St-Denis, Jill A. Rosenfeld, Stephanie C. Laniewski, Julie Jones, Alejandro D. Iglesias, Marilyn C. Jones, Diane Masser-Frye, Angela E. Scheuerle, Denise L. Perry, Ryan J. Taft, Françoise Le Deist, Miles Thompson, Taroh Kinoshita, Philippe M. Campeau

Am J Hum Genet. 2018 Oct 4; 103(4): 602–611. Published online 2018 Sep 27. doi: 10.1016/j.ajhg.2018.08.014

PMCID:: PMC6174287

Abstract Article PDF–1.9M

Select item 48196227.

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia

Christopher M Watson, Laura A Crinnion, Helen Murphy, Melanie Newbould, Sally M Harrison, Carolina Lascelles, Agne Antanaviciute, Ian M Carr, Eamonn Sheridan, David T Bonthron, Audrey Smith

J Med Genet. 2016 Apr; 53(4): 264–269. Published online 2016 Jan 5. doi: 10.1136/jmedgenet-2015-103620

PMCID:: PMC4819622

Abstract Article PDF–722K

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