PMC Articles for MedGen (Select 1824030) - PMC

Result Filters

Links from MedGen

Items: 4

Select item 93883891.

Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita

Hemanth Tummala, Amanda Walne, Roberto Buccafusca, Jenna Alnajar, Anita Szabo, Peter Robinson, Allyn McConkie-Rosell, Meredith Wilson, Suzanne Crowley, Veronica Kinsler, Anna-Maria Ewins, Pradeepa M. Madapura, Manthan Patel, Nikolas Pontikos, Veryan Codd, Tom Vulliamy, Inderjeet Dokal

Am J Hum Genet. 2022 Aug 4; 109(8): 1472–1483. Published online 2022 Aug 5. doi: 10.1016/j.ajhg.2022.06.014

Correction in:: Am J Hum Genet. 2024 Jul 11; 111(7): 1494.

PMCID:: PMC9388389

Article PDF–2.3M

Select item 89521842.

Disease progression and clinical outcomes in telomere biology disorders

Marena R. Niewisch, Neelam Giri, Lisa J. McReynolds, Rotana Alsaggaf, Sonia Bhala, Blanche P. Alter, Sharon A. Savage

Blood. 2022 Mar 24; 139(12): 1807–1819. doi: 10.1182/blood.2021013523

PMCID:: PMC8952184

Article

Select item 59705163.

Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report

Vithiya Ratnasamy, Suganthan Navaneethakrishnan, Nirmala Dushyanthi Sirisena, Nana-Maria Grüning, Oliver Brandau, Kumanan Thirunavukarasu, Casey L. Dagnall, Lisa J. McReynolds, Sharon A. Savage, Vajira H. W. Dissanayake

BMC Med Genet. 2018; 19: 85. Published online 2018 May 25. doi: 10.1186/s12881-018-0584-y

PMCID:: PMC5970516

Article PDF–890K

Select item 37570514.

A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome

Bari J. Ballew, Vijai Joseph, Saurav De, Grzegorz Sarek, Jean-Baptiste Vannier, Travis Stracker, Kasmintan A. Schrader, Trudy N. Small, Richard O'Reilly, Chris Manschreck, Megan M. Harlan Fleischut, Liying Zhang, John Sullivan, Kelly Stratton, Meredith Yeager, Kevin Jacobs, Neelam Giri, Blanche P. Alter, Joseph Boland, Laurie Burdett, Kenneth Offit, Simon J. Boulton, Sharon A. Savage, John H. J. Petrini

PLoS Genet. 2013 Aug; 9(8): e1003695. Published online 2013 Aug 29. doi: 10.1371/journal.pgen.1003695