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Quoted phrase not found in phrase index: "Dyskeratosis congenita autosomal recessive 1"
Page 1
Dyskeratosis congenita and telomere biology disorders.
Savage SA. Savage SA. Hematology Am Soc Hematol Educ Program. 2022 Dec 9;2022(1):637-648. doi: 10.1182/hematology.2022000394. Hematology Am Soc Hematol Educ Program. 2022. PMID: 36485133 Free PMC article. Review.
Numerous genetic discoveries and the advent of clinical telomere length testing have led to the recognition of a spectrum of telomere biology disorders (TBDs) beyond the classic dyskeratosis congenita (DC) triad of nail dysplasia, abnormal skin pigmentation, and ora …
Numerous genetic discoveries and the advent of clinical telomere length testing have led to the recognition of a spectrum of telomere biolog …
Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders.
Vittal A, Niewisch MR, Bhala S, Kudaravalli P, Rahman F, Hercun J, Kleiner DE, Savage SA, Koh C, Heller T, Giri N. Vittal A, et al. Hepatology. 2023 Dec 1;78(6):1777-1787. doi: 10.1097/HEP.0000000000000461. Epub 2023 May 16. Hepatology. 2023. PMID: 37184208 Free PMC article.
BACKGROUND AND AIMS: Dyskeratosis congenita (DC) and related telomere biology disorders (TBD) are characterized by very short telomeres and multisystem organ involvement including liver disease. ...Patients with autosomal or X-linked recessive inherita …
BACKGROUND AND AIMS: Dyskeratosis congenita (DC) and related telomere biology disorders (TBD) are characterized by very short …
Neonatal manifestations of inherited bone marrow failure syndromes.
Khincha PP, Savage SA. Khincha PP, et al. Semin Fetal Neonatal Med. 2016 Feb;21(1):57-65. doi: 10.1016/j.siny.2015.12.003. Epub 2015 Dec 24. Semin Fetal Neonatal Med. 2016. PMID: 26724991 Free PMC article. Review.
The inherited bone marrow failure syndromes (IBMFS) are a rare yet clinically important cause of neonatal hematological and non-hematological manifestations. Many of these syndromes, such as Fanconi anemia, dyskeratosis congenita and Diamond-Blackfan anemia, confer …
The inherited bone marrow failure syndromes (IBMFS) are a rare yet clinically important cause of neonatal hematological and non-hematologica …
Telomere biology disorders may manifest as common variable immunodeficiency (CVID).
Rolles B, Caballero-Oteyza A, Proietti M, Goldacker S, Warnatz K, Camacho-Ordonez N, Prader S, Schmid JP, Vieri M, Isfort S, Meyer R, Kirschner M, Brümmendorf TH, Beier F, Grimbacher B. Rolles B, et al. Clin Immunol. 2023 Dec;257:109837. doi: 10.1016/j.clim.2023.109837. Epub 2023 Nov 8. Clin Immunol. 2023. PMID: 37944684
Telomere biology disorders (TBD) are caused by germline pathogenic variants in genes related to telomere maintenance and are characterized by critically short telomeres. In contrast to classical dyskeratosis congenita (DC), which is typically diagnosed in infancy, a …
Telomere biology disorders (TBD) are caused by germline pathogenic variants in genes related to telomere maintenance and are characterized b …
Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.
Vulliamy TJ, Dokal I. Vulliamy TJ, et al. Biochimie. 2008 Jan;90(1):122-30. doi: 10.1016/j.biochi.2007.07.017. Epub 2007 Jul 31. Biochimie. 2008. PMID: 17825470 Review.
Dyskeratosis congenita is an inherited syndrome characterised by mucocutaneous features, bone marrow failure, an increased risk of malignancy and other somatic abnormalities. There is a considerable range of clinical severity and in its occult form the disease may p …
Dyskeratosis congenita is an inherited syndrome characterised by mucocutaneous features, bone marrow failure, an increased ris …
Disease progression and clinical outcomes in telomere biology disorders.
Niewisch MR, Giri N, McReynolds LJ, Alsaggaf R, Bhala S, Alter BP, Savage SA. Niewisch MR, et al. Blood. 2022 Mar 24;139(12):1807-1819. doi: 10.1182/blood.2021013523. Blood. 2022. PMID: 34852175 Free PMC article.
Dyskeratosis congenita related telomere biology disorders (DC/TBDs) are characterized by very short telomeres caused by germline pathogenic variants in telomere biology genes. Clinical presentations can affect all organs, and inheritance patterns include autosoma …
Dyskeratosis congenita related telomere biology disorders (DC/TBDs) are characterized by very short telomeres caused by germli …