Publications:

Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes.

Hemasphere

Gálvez, Eva E; Vallespín, Elena E; Arias-Salgado, Elena G EG; Sánchez-Valdepeñas, Carmen C; Giménez, Yari Y; Navarro, Susana S; Río, Paula P; Bogliolo, Massimo M; Pujol, Roser R; Peiró, Montserrat M; Nevado, Julián J; Zubicaray, Josune J; Sebastián, Elena E; Catalá, Albert A; Beléndez, Cristina C; Díaz de Heredia, Cristina C; Galera, Ana A; Badell, Isabel I; Madero, Luis L; Perona, Rosario R; Sastre, Leandro L; Surrallés, Jordi J; Bueren, Juan J; Lapunzina, Pablo P; Sevilla, Julián J

Publication Date: 2021-04

Variant appearance in text: TERT: 2225G>A

PubMed Link: 33718801

Variant Present in the following documents:

• Main text
• hs9-5-e539.pdf

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Telomere Abnormalities in the Pathobiology of Idiopathic Pulmonary Fibrosis.

Journal Of Clinical Medicine

Bilgili, Hasancan H; Białas, Adam J AJ; Górski, Paweł P; Piotrowski, Wojciech J WJ

Publication Date: 2019-08-16

Variant appearance in text: TERT: Arg742His

PubMed Link: 31426295

Variant Present in the following documents:

• Main text
• jcm-08-01232.pdf

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Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.

Orphanet Journal Of Rare Diseases

Arias-Salgado, Elena G EG; Galvez, Eva E; Planas-Cerezales, Lurdes L; Pintado-Berninches, Laura L; Vallespin, Elena E; Martinez, Pilar P; Carrillo, Jaime J; Iarriccio, Laura L; Ruiz-Llobet, Anna A; Catalá, Albert A; Badell-Serra, Isabel I; Gonzalez-Granado, Luis I LI; Martín-Nalda, Andrea A; Martínez-Gallo, Mónica M; Galera-Miñarro, Ana A; Rodríguez-Vigil, Carmen C; Bastos-Oreiro, Mariana M; Perez de Nanclares, Guiomar G; Leiro-Fernández, Virginia V; Uria, Maria-Luz ML; Diaz-Heredia, Cristina C; Valenzuela, Claudia C; Martín, Sara S; López-Muñiz, Belén B; Lapunzina, Pablo P; Sevilla, Julian J; Molina-Molina, María M; Perona, Rosario R; Sastre, Leandro L

Publication Date: 2019-04-17

Variant appearance in text: TERT: R742H

PubMed Link: 30995915

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1046.pdf

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An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.

American Journal Of Respiratory And Critical Care Medicine

Petrovski, Slavé S; Todd, Jamie L JL; Durheim, Michael T MT; Wang, Quanli Q; Chien, Jason W JW; Kelly, Fran L FL; Frankel, Courtney C; Mebane, Caroline M CM; Ren, Zhong Z; Bridgers, Joshua J; Urban, Thomas J TJ; Malone, Colin D CD; Finlen Copeland, Ashley A; Brinkley, Christie C; Allen, Andrew S AS; O'Riordan, Thomas T; McHutchison, John G JG; Palmer, Scott M SM; Goldstein, David B DB

Publication Date: 2017-07-01

Variant appearance in text: TERT: Arg742His; rs727503468

PubMed Link: 28099038

Variant Present in the following documents:

• Main text

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Short telomeres, telomeropathy, and subclinical extrapulmonary organ damage in patients with interstitial lung disease.

Chest

George, Gautam G; Rosas, Ivan O IO; Cui, Ye Y; McKane, Caitlin C; Hunninghake, Gary M GM; Camp, Phillip C PC; Raby, Benjamin A BA; Goldberg, Hilary J HJ; El-Chemaly, Souheil S

Publication Date: 2015-06

Variant appearance in text: TERT: 2225G>A; R742H

PubMed Link: 25393420

Variant Present in the following documents:

• Main text

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