PMC Articles for MedGen (Select 347261) - PMC

Select item 78052481.

A 13-Year-Old Boy from Thailand with Hutchinson-Gilford Progeria Syndrome with Coronary Artery and Aortic Calcification and Non-ST-Segment Elevation Myocardial Infarction (NSTEMI)

Natnicha Pongbangli, Kannika Pitipakorn, Sasivimon Jai-aue, Piyaporn Sirijanchune, Sorawit Pongpittayut, Wanwarang Wongcharoen

Am J Case Rep. 2021; 22: e928969-1–e928969-6. Published online 2021 Jan 8. doi: 10.12659/AJCR.928969

PMCID:: PMC7805248

Article PDF–2.0M

Select item 70807802.

A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL

Eliane Beauregard-Lacroix, Smrithi Salian, Hyunyun Kim, Sophie Ehresmann, Guylaine DʹAmours, Julie Gauthier, Virginie Saillour, Geneviève Bernard, Grant A. Mitchell, Jean-François Soucy, Jacques L. Michaud, Philippe M. Campeau

Eur J Hum Genet. 2020 Apr; 28(4): 461–468. Published online 2019 Nov 6. doi: 10.1038/s41431-019-0539-6

PMCID:: PMC7080780

Article PDF–967K

Select item 62883183.

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome

Jennifer A. Wambach, Daniel J. Wegner, Nivedita Patni, Martin Kircher, Marcia C. Willing, Dustin Baldridge, Chao Xing, Anil K. Agarwal, Samantha A. Schrier Vergano, Chirag Patel, Dorothy K. Grange, Amy Kenney, Tasnim Najaf, Deborah A. Nickerson, Michael J. Bamshad, F. Sessions Cole, Abhimanyu Garg

Am J Hum Genet. 2018 Dec 6; 103(6): 968–975. Published online 2018 Nov 7. doi: 10.1016/j.ajhg.2018.10.010

PMCID:: PMC6288318

Article PDF–1.0M

Select item 32300284.

Hutchinson-Gilford Progeria Syndrome with G608G LMNA Mutation

Hui Kwon Kim, Jong Yoon Lee, Eun Ju Bae, Phil Soo Oh, Won Il Park, Dong Sung Lee, Jong-Il Kim, Hong Jin Lee

J Korean Med Sci. 2011 Dec; 26(12): 1642–1645. Published online 2011 Nov 29. doi: 10.3346/jkms.2011.26.12.1642

PMCID:: PMC3230028

Article PDF–1.2M

Select item 11831985.

Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress

Mauro Paradisi, Dayle McClintock, Revekka L Boguslavsky, Christina Pedicelli, Howard J Worman, Karima Djabali

BMC Cell Biol. 2005; 6: 27. Published online 2005 Jun 27. doi: 10.1186/1471-2121-6-27

PMCID:: PMC1183198

Article PDF–1.3M

Select item 56133606.

Radiological Diagnosis of a Rare Premature Aging Genetic Disorder: Progeria (Hutchinson-Gilford Syndrome)

Haji Mohammed Nazir, Akshiitha Ramesh Baabhu, Yuvaraj Muralidharan, Seena Cheppala Rajan

Case Rep Radiol. 2017; 2017: 1305360. Published online 2017 Sep 12. doi: 10.1155/2017/1305360

PMCID:: PMC5613360

Article PDF–1.5M

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