Results 111 to 120 of about 4,338 (156)

Severe Treatment-Related Toxicity in Oral Cavity Squamous Cell Carcinoma with Dyskeratosis Congenita: A Case Report and Critical Review of Radiation-Induced Complications. [PDF]

Adv Radiat Oncol
Banks R, Munjal A, Healy E, Harris JP.
europepmc   +1 more source

Nucleotide sugars correlate with leukocyte telomere length as part of a dyskeratosis congenita metabolomic plasma signature. [PDF]

Haematologica
Li Y, Sági-Kiss V, James ELN, Dokal I, Parkinson KE, Bundy JG.   +5 more
europepmc   +1 more source

Dyskeratosis Congenita Complicated by Pulmonary Fibrosis and Myelodysplastic Syndrome with a Germline Mutation of the DKC1 Gene and a Somatic Mutation of the U2AF1 Gene in Leukocytes. [PDF]

Intern Med
Watanabe H, Takahashi Y, Namiki T, Nakagawa R, Inui T, Ishikawa H, Wakamatsu M, Muramatsu H, Sakamoto T.   +8 more
europepmc   +1 more source

Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita. [PDF]

Am J Hum Genet
Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, McConkie-Rosell A, Wilson M, Crowley S, Kinsler V, Ewins AM, Madapura PM, Patel M, Pontikos N, Codd V, Vulliamy T, Dokal I.   +16 more
europepmc   +1 more source

Locally advanced rectal cancer in a young adult affected with dyskeratosis congenita (Zinsser-Cole-Engman syndrome): a case report. [PDF]

Surg Case Rep
Ono K, Hiyoshi Y, Ono A, Ouchi M, Kosumi K, Eto K, Ida S, Iwatsuki M, Baba Y, Miyamoto Y, Kajihara I, Tanaka K, Miyasato Y, Baba H.   +13 more
europepmc   +1 more source

Dyskeratosis congenita [PDF]

, 2004
openaire   +1 more source

Linking Gene Fusions to Bone Marrow Failure and Malignant Transformation in Dyskeratosis Congenita. [PDF]

Int J Mol Sci
Güllülü Ö, Mayer BE, Toplek FB.
europepmc   +1 more source

The Use of Social Media to Express and Manage Medical Uncertainty in Dyskeratosis Congenita: Content Analysis. [PDF]

JMIR Infodemiology
Pearce E, Raj H, Emezienna N, Gilkey MB, Lazard AJ, Ribisl KM, Savage SA, Han PK.   +7 more
europepmc   +1 more source

Correction to: The C-terminal extension of dyskerin is a dyskeratosis congenita mutational hotspot that modulates interaction with telomerase RNA and subcellular localization. [PDF]

Hum Mol Genet
europepmc   +1 more source

The C-terminal extension of dyskerin is a dyskeratosis congenita mutational hotspot that modulates interaction with telomerase RNA and subcellular localization. [PDF]

Hum Mol Genet
Qin J, Garus A, Autexier C.
europepmc   +1 more source