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 44224765.

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 89036286.

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 86836317.

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 49865288.

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 113916639.

Role of Laparoscopy in Severe Gastrointestinal Bleeding Secondary to Coats Plus Syndrome

Miguel Serpa-Irizarry, Pedro Ruiz-Medina, Antonio Del Valle-Segarra, Jorge Zequeira-Diaz

Cureus. 2024 Sep; 16(9): e69158. Published online 2024 Sep 11. doi: 10.7759/cureus.69158

PMCID:: PMC11391663

Abstract Article PDF–104K

Select item 593465910.

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 280095111.

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 330919412.

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 522865613.

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 630564314.

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 811947815.

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 937197216.

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 521752717.

Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita

Michael J. Allingham

Ophthalmic Surg Lasers Imaging Retina. Author manuscript; available in PMC 2017 Jan 6.

Published in final edited form as: Ophthalmic Surg Lasers Imaging Retina. 2016 Apr 1; 47(4): 366–368. doi: 10.3928/23258160-20160324-11

PMCID:: PMC5217527

Abstract Article PDF–149K

Select item 368849618.

Adult-onset leukoencephalopathy, brain calcifications and cysts: a case report

Yaming Wang, Gang Cheng, Chao Dong, Jianning Zhang, Yuhong Meng

J Med Case Rep. 2013; 7: 151. Published online 2013 Jun 6. doi: 10.1186/1752-1947-7-151

PMCID:: PMC3688496

Abstract Article PDF–3.6M

Select item 984279319.

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

PMCID:: PMC9842793

Abstract Article PDF–844K

Select item 304211820.

Treatment of Gastrointestinal Bleeding in a Probable Case of Cerebroretinal Microangiopathy with Calcifications and Cysts

T.A. Briggs, M. Hubbard, C. Hawkins, T. Cole, J.H. Livingston, Y.J. Crow, A. Pigott

Mol Syndromol. 2011 Jan; 1(4): 159–162. Published online 2010 Nov 9. doi: 10.1159/000321559

PMCID:: PMC3042118

Abstract Article PDF–120K

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