PMC Articles for MedGen (Select 868895) - PMC

Select item 90375551.

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy

Celine Deneubourg, Mauricio Ramm, Luke J. Smith, Olga Baron, Kritarth Singh, Susan C. Byrne, Michael R. Duchen, Mathias Gautel, Eeva-Liisa Eskelinen, Manolis Fanto, Heinz Jungbluth

Autophagy. 2022; 18(3): 496–517. Published online 2021 Aug 19. doi: 10.1080/15548627.2021.1943177

PMCID:: PMC9037555

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Select item 84879292.

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Thomas A. Ravenscroft, Jennifer B. Phillips, Elizabeth Fieg, Sameer S. Bajikar, Judy Peirce, Jeremy Wegner, Alia A. Luna, Eric J. Fox, Yi-Lin Yan, Jill A. Rosenfeld, Jonathan Zirin, Oguz Kanca, Undiagnosed Diseases Network, Paul J. Benke, Eric S. Cameron, Vincent Strehlow, Konrad Platzer, Rami Abou Jamra, Chiara Klöckner, Matthew Osmond, Thomas Licata, Samantha Rojas, David Dyment, Josephine S.C. Chong, Sharyn Lincoln, Joan M. Stoler, John H. Postlethwait, Michael F. Wangler, Shinya Yamamoto, Joel Krier, Monte Westerfield, Hugo J. Bellen

Genet Med. Author manuscript; available in PMC 2021 Dec 10.

Published in final edited form as: Genet Med. 2021 Oct; 23(10): 1889–1900. Published online 2021 Jun 10. doi: 10.1038/s41436-021-01216-8

PMCID:: PMC8487929

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Select item 72336423.

Atrial septal defects, supravalvular aortic stenosis and syndromes predisposing to aneurysm of large vessels

Mirko Baglivo, Sarah Dassati, Geraldo Krasi, Francesca Fanelli, Danjela Kurti, Andrea Bonelli, Gianmarco Arabia, Davide Fabbricatore, Claudio Muneretto, Matteo Bertelli

Acta Biomed. 2019; 90(Suppl 10): 53–57. Published online 2019 Sep 30. doi: 10.23750/abm.v90i10-S.8760

PMCID:: PMC7233642

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Select item 72280674.

Pulmonary ductal coarctation and left pulmonary artery interruption; pathology and role of neural crest and second heart field during development

Adriana C. Gittenberger-de Groot, Joshua C. Peterson, Lambertus J. Wisse, Arno A. W. Roest, Robert E. Poelmann, Regina Bökenkamp, Nynke J. Elzenga, Mark Hazekamp, Margot M. Bartelings, Monique R. M. Jongbloed, Marco C. DeRuiter

PLoS One. 2020; 15(5): e0228478. Published online 2020 May 15. doi: 10.1371/journal.pone.0228478

PMCID:: PMC7228067

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Select item 56138255.

Müllerian anomaly in a woman with Hirschsprung's disease

Justin Davis, Katlyn Hoover, Robert P Kauffman

BMJ Case Rep. 2017; 2017: bcr2017220246. Published online 2017 Aug 7. doi: 10.1136/bcr-2017-220246

PMCID:: PMC5613825

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Select item 49573616.

Genetic and epigenetic mechanisms in the development of arteriovenous malformations in the brain

Jaya Mary Thomas, Sumi Surendran, Mathew Abraham, Arumugam Rajavelu, Chandrasekharan C. Kartha

Clin Epigenetics. 2016; 8: 78. Published online 2016 Jul 22. doi: 10.1186/s13148-016-0248-8

Correction in:: Clin Epigenetics. 2018; 10: 124.

PMCID:: PMC4957361

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Select item 46015747.

Knockdown of poc1b causes abnormal photoreceptor sensory cilium and vision impairment in zebrafish

Conghui Zhang, Qi Zhang, Fang Wang, Qin Liu

Biochem Biophys Res Commun. Author manuscript; available in PMC 2016 Oct 2.

Published in final edited form as: Biochem Biophys Res Commun. 2015 Oct 2; 465(4): 651–657. Published online 2015 Jul 15. doi: 10.1016/j.bbrc.2015.06.083

PMCID:: PMC4601574

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Select item 31355518.

Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy

Miia Holmström, Sari Kivistö, Tiina Heliö, Raija Jurkko, Maija Kaartinen, Margareta Antila, Eeva Reissell, Johanna Kuusisto, Satu Kärkkäinen, Keijo Peuhkurinen, Juha Koikkalainen, Jyrki Lötjönen, Kirsi Lauerma

J Cardiovasc Magn Reson. 2011; 13(1): 30. Published online 2011 Jun 20. doi: 10.1186/1532-429X-13-30

PMCID:: PMC3135551

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Select item 17286109.

Monosomy 22q11 in patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries

M. Hofbeck, A. Rauch, G. Buheitel, G. Leipold, J. von der Emde, R. Pfeiffer, H. Singer

Heart. 1998 Feb; 79(2): 180–185. doi: 10.1136/hrt.79.2.180

PMCID:: PMC1728610

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