PMC Articles for MedGen (Select 1636142) - PMC

Noufissa Oudrhiri, Radhia M’kacher, Diana Chaker, Bruno Colicchio, Claire Borie, Eric Jeandidier, Alain Dieterlen, Frank Griscelli, Annelise Bennaceur-Griscelli, Ali G. Turhan

Genes (Basel) 2022 Aug; 13(8): 1395. Published online 2022 Aug 5. doi: 10.3390/genes13081395

PMCID:: PMC9407572

Abstract Article PDF–12M

Select item 89036284.

Coats plus syndrome: a rare cause of severe gastrointestinal tract bleeding in children – a case report

Selcen Bozkurt, Ayse Merve Usta, Nafiye Urganci, Nida Gulderen Kalay, Gulsen Kose, Evrim Ozmen

BMC Pediatr. 2022; 22: 119. Published online 2022 Mar 8. doi: 10.1186/s12887-022-03140-5

PMCID:: PMC8903628

Abstract Article PDF–2.9M

Select item 86836315.

Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome

Tanvi Acharya, Helen V. Firth, Shilpa Dugar, Tassos Grammatikopoulos, Luis Seabra, Angharad Walters, Yanick J. Crow, Alasdair P. J. Parker

Mol Genet Genomic Med. 2021 Dec; 9(12): e1708. Published online 2021 Jun 10. doi: 10.1002/mgg3.1708

PMCID:: PMC8683631

Abstract Article PDF–906K

Select item 49865286.

Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects

Amos J. Simon, Atar Lev, Yong Zhang, Batia Weiss, Anna Rylova, Eran Eyal, Nitzan Kol, Ortal Barel, Keren Cesarkas, Michalle Soudack, Noa Greenberg-Kushnir, Michele Rhodes, David L. Wiest, Ginette Schiby, Iris Barshack, Shulamit Katz, Elon Pras, Hana Poran, Haike Reznik-Wolf, Elena Ribakovsky, Carlos Simon, Wadi Hazou, Yechezkel Sidi, Avishay Lahad, Hagar Katzir, Shira Sagie, Haifa A. Aqeilan, Galina Glousker, Ninette Amariglio, Yehuda Tzfati, Sara Selig, Gideon Rechavi, Raz Somech

J Exp Med. 2016 Jul 25; 213(8): 1429–1440. doi: 10.1084/jem.20151618

PMCID:: PMC4986528

Abstract Article PDF–2.1M

Select item 44224767.

Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation

Manjunath Netravathi, Renu Kumari, Saketh Kapoor, Pushkar Dakle, Manish Kumar Dwivedi, Sumitabho Deb Roy, Paritosh Pandey, Jitender Saini, Anil Ramakrishna, Devaraddi Navalli, Parthasarathy Satishchandra, Pramod Kumar Pal, Arun Kumar, Mohammed Faruq

BMC Med Genet. 2015; 16: 5. Published online 2015 Feb 10. doi: 10.1186/s12881-015-0151-8

PMCID:: PMC4422476

Abstract Article PDF–1.0M

Select item 93719728.

Cryo-EM structure of the human CST–Polα/primase complex in a recruitment state

Sarah W. Cai, John C. Zinder, Vladimir Svetlov, Martin W. Bush, Evgeny Nudler, Thomas Walz, Titia de Lange

Nat Struct Mol Biol. 2022; 29(8): 813–819. Published online 2022 May 16. doi: 10.1038/s41594-022-00766-y

PMCID:: PMC9371972

Abstract Article PDF–13M

Select item 81194789.

Structural genomics approach to investigate deleterious impact of nsSNPs in conserved telomere maintenance component 1

Arunabh Choudhury, Taj Mohammad, Nikhil Samarth, Afzal Hussain, Md. Tabish Rehman, Asimul Islam, Mohamed F. Alajmi, Shailza Singh, Md. Imtaiyaz Hassan

Sci Rep. 2021; 11: 10202. Published online 2021 May 13. doi: 10.1038/s41598-021-89450-7

PMCID:: PMC8119478

Abstract Article PDF–2.4M

Select item 630564310.

CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures

Forough Sargolzaeiaval, Jiaming Zhang, Jennifer Schleit, Davor Lessel, Christian Kubisch, Debora R. Precioso, David Sillence, Fuki M. Hisama, Michael Dorschner, George M. Martin, Junko Oshima

Mol Genet Genomic Med. 2018 Nov; 6(6): 1148–1156. Published online 2018 Nov 4. doi: 10.1002/mgg3.495

PMCID:: PMC6305643

Abstract Article PDF–778K

Select item 593465911.

Pathogenic CTC1 mutations cause global genome instabilities under replication stress

Yuan Wang, Weihang Chai

Nucleic Acids Res. 2018 May 4; 46(8): 3981–3992. Published online 2018 Feb 22. doi: 10.1093/nar/gky114

PMCID:: PMC5934659

Abstract Article PDF–3.9M

Select item 522865612.

Cerebroretinal microangiopathy with calcifications and cysts: A case report

Wenrui Xu, Jiuliang Zhao, Yicheng Zhu, Weihong Zhang

Medicine (Baltimore) 2017 Jan; 96(1): e5545. Published online 2017 Jan 10. doi: 10.1097/MD.0000000000005545

PMCID:: PMC5228656

Abstract Article PDF–244K

Select item 330919413.

Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts

Anne Polvi, Tarja Linnankivi, Tero Kivelä, Riitta Herva, James P. Keating, Outi Mäkitie, Davide Pareyson, Leena Vainionpää, Jenni Lahtinen, Iiris Hovatta, Helena Pihko, Anna-Elina Lehesjoki

Am J Hum Genet. 2012 Mar 9; 90(3): 540–549. doi: 10.1016/j.ajhg.2012.02.002

PMCID:: PMC3309194

Abstract Article PDF–922K

Select item 280095114.

Recessive Developmental Delay, Small Stature, Microcephaly and Brain Calcifications with Locus on Chromosome 2

Anna Rajab, Kimberly A. Aldinger, Hisham Ali El-Shirbini, William B. Dobyns, M. Elizabeth Ross

Am J Med Genet A. Author manuscript; available in PMC 2010 Feb 1.

Published in final edited form as: Am J Med Genet A. 2009 Feb; 149A(2): 129–137. doi: 10.1002/ajmg.a.32630

PMCID:: PMC2800951

Abstract Article PDF–746K

Select item 984279315.

A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants

Kazuo Kodama, Hiromi Aoyama, Yoshimi Murakami, Jun-ichi Takanashi, Eriko Koshimizu, Satoko Miyatake, Kazuhiro Iwama, Takeshi Mizuguchi, Naomichi Matsumoto, Taku Omata

Radiol Case Rep. 2023 Mar; 18(3): 1217–1220. Published online 2023 Jan 12. doi: 10.1016/j.radcr.2022.11.033