PMC Links for dbGaP (Select 1748264) - PMC

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Items: 3

Select item 58415861.

Pulmonary Arteriovenous Malformations: an uncharacterized phenotype of Dyskeratosis Congenita and related Telomere Biology Disorders

Payal P Khincha, Alison A. Bertuch, Suneet Agarwal, Danielle M Townsley, Neal S Young, Siobán Keel, Akiko Shimamura, Farid Boulad, Tregony Simoneau, Henri Justino, Christin Kuo, Steven Artandi, Charles McCaslin, Des W Cox, Sara Chaffee, Bridget F Collins, Neelam Giri, Blanche P Alter, Ganesh Raghu, Sharon A Savage

Eur Respir J. Author manuscript; available in PMC 2018 Mar 7.

Published in final edited form as: Eur Respir J. 2017 Jan; 49(1): 1601640. Published online 2017 Jan 25. doi: 10.1183/13993003.01640-2016

PMCID:: PMC5841586

Abstract Article PDF–65K

Select item 49478662.

The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita

Shahinaz M. Gadalla, Payal P. Khincha, Hormuzd A. Katki, Neelam Giri, Jason Y. Y. Wong, Stephen Spellman, Jack A. Yanovski, Joan C. Han, Immaculata De Vivo, Blanche P. Alter, Sharon A. Savage

Mol Genet Genomic Med. 2016 Jul; 4(4): 475–479. Published online 2016 Mar 20. doi: 10.1002/mgg3.220

PMCID:: PMC4947866

Abstract Article PDF–287K

Select item 47891743.

Hoyeraal-Hreidarsson Syndrome Due to PARN Mutations: Fourteen Years of Follow-up

Ashley M. Burris, Bari J. Ballew, Joshua B. Kentosh, Clesson E. Turner, Scott A. Norton, NCI DCEG Cancer Genomics Research Laboratory, NCI DCEG Cancer Sequencing Working Group, Neelam Giri, Blanche P. Alter, Anandani Nellan, Christopher Gamper, Kip R. Hartman, Sharon A. Savage

Pediatr Neurol. Author manuscript; available in PMC 2017 Mar 1.

Published in final edited form as: Pediatr Neurol. 2016 Mar; 56: 62–68.e1. Published online 2015 Dec 19. doi: 10.1016/j.pediatrneurol.2015.12.005