Results 91 to 100 of about 4,338 (156)

New Insights into Dyskerin-CypA Interaction: Implications for X-Linked Dyskeratosis Congenita and Beyond. [PDF]

Genes (Basel), 2023
Belli V, Maiello D, Di Lorenzo C, Furia M, Vicidomini R, Turano M.   +5 more
europepmc   +1 more source

A rare case of dyskeratosis congenita with DKC1 mutation presenting initially as thrombocytopenia: Case report. [PDF]

Medicine (Baltimore)
Wen R, Tian J.
europepmc   +1 more source

Dyskeratosis congenita: natural history of the disease through the study of a cohort of patients diagnosed in childhood. [PDF]

Front Pediatr, 2023
Uria-Oficialdegui ML, Navarro S, Murillo-Sanjuan L, Rodriguez-Vigil C, Benitez-Carbante MI, Blazquez-Goñi C, Salinas JA, Diaz-de-Heredia C.   +7 more
europepmc   +1 more source

Adriamycin, Vinblastine and Dacarbazine With Immunotherapy Achieves Complete Metabolic Response in a Patient With Classical Hodgkin Lymphoma and Dyskeratosis Congenita. [PDF]

J Hematol
Slapnicar C, Lala P, Lee S, Zandi S, Trinkaus M.   +4 more
europepmc   +1 more source

RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita. [PDF]

Clin Genet
Akimova D, Semenova N, Cherevatova T, Skoblov M.   +3 more
europepmc   +1 more source

Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders. [PDF]

Hepatology, 2023
Vittal A, Niewisch MR, Bhala S, Kudaravalli P, Rahman F, Hercun J, Kleiner DE, Savage SA, Koh C, Heller T, Giri N.   +10 more
europepmc   +1 more source

Bilateral cytomegalovirus retinitis in a patient with dyskeratosis congenita. [PDF]

Int J Ophthalmol
Gao YF, Deng AP, Jiao KW, Tian R.
europepmc   +1 more source

Are Dyskeratosis Congenita patients at higher risk of symptomatic COVID-19? [PDF]

Med Hypotheses, 2022
Dorgaleleh S, Naghipoor K, Hozhabrpour A, Vahidnezhad H.   +3 more
europepmc   +1 more source

Kindler Syndrome: A Close Mimic of Dyskeratosis Congenita and the Need to Distinguish the Two Clinical Entities

Oman Medical Journal, 2014
Shailendra Kapoor
doaj   +1 more source

Dyskeratosis congenita: a rare case report. [PDF]

Oxf Med Case Reports
Khattab S, Nasser H, Al-Janabi MH, Hasan F.   +3 more
europepmc   +1 more source