A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation (2019)
- Authors:
- Autor USP: RODRIGUES, RODRIGO DO TOCANTINS CALADO DE SALOMA - FMRP
- Unidade: FMRP
- DOI: 10.1007/s00439-019-02076-8
- Subjects: HEMATOLOGIA; TELÔMERO; FENÓTIPOS; GENÉTICA
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Publisher place: Heidelberg
- Date published: 2019
- Source:
- Título: Human Genetics
- ISSN: 0340-6717
- Volume/Número/Paginação/Ano: v. 138, n. 11-12, p. 1323-1330, 2019
- Status:
- Artigo possui versão em acesso aberto em repositório (Green Open Access)
- Versão do Documento:
- Versão submetida (Pré-print)
- Acessar versão aberta:
-
ABNT
GUTIERREZ-RODRIGUES, Fernanda et al. A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation. Human Genetics, v. 138, n. 11-12, p. 1323-1330, 2019Tradução . . Disponível em: https://doi.org/10.1007/s00439-019-02076-8. Acesso em: 14 abr. 2026. -
APA
Gutierrez-Rodrigues, F., Masri, N., Chouery, E., Diamond, C., Jalkh, N., Vicente, A., et al. (2019). A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation. Human Genetics, 138( 11-12), 1323-1330. doi:10.1007/s00439-019-02076-8 -
NLM
Gutierrez-Rodrigues F, Masri N, Chouery E, Diamond C, Jalkh N, Vicente A, Kajigaya S, Abillama F, Bejjani N, Serhal W, Calado RT, Young NS, Farhat H, Coussa ML. A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation [Internet]. Human Genetics. 2019 ; 138( 11-12): 1323-1330.[citado 2026 abr. 14 ] Available from: https://doi.org/10.1007/s00439-019-02076-8 -
Vancouver
Gutierrez-Rodrigues F, Masri N, Chouery E, Diamond C, Jalkh N, Vicente A, Kajigaya S, Abillama F, Bejjani N, Serhal W, Calado RT, Young NS, Farhat H, Coussa ML. A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation [Internet]. Human Genetics. 2019 ; 138( 11-12): 1323-1330.[citado 2026 abr. 14 ] Available from: https://doi.org/10.1007/s00439-019-02076-8 - Defective telomere elongation and hematopoiesis from telomerase-mutant aplastic anemia iPSCs
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- Telomere shortening in hepatocyte proliferation and predisposition to alcohol-induced steatosis
- Telomerase enzyme deficiency promotes metabolic dysfunction in murine hepatocytes upon dietary stress
- Telomere dynamics in iPS cells derived from human patients with telomerase mutations
- Predictors of early mortality after rabbit antithymocyte globulin as first-line treatment in severe aplastic anemia
- Células reprogramadas. [Depoimento a Hérika Dias e Luis Ribeiro]
- A mutation in the CCAAT box of the TERC promoter region causes telomere disease
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