Associated Papers
Pearls & Oy-sters: Adult-Onset Coats Plus: A Case of Leukoencephalopathy With Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease.
Serrão C et al.
Neurology, 2025
Underlying Disease in Atypical Retinopathy of Prematurity.
Cruz NFSD et al.
American Journal of Ophthalmology, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Telomere Biology Disorders: Clinical and Angiographic Findings.
da Cruz NFS et al.
Ophthalmology. Retina, 2025
Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.
Niewisch MR et al.
Jama Network Open, 2024
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H et al.
Embo Molecular Medicine, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
DeRoin L et al.
Human Mutation, 2022
Ophthalmic findings and a novel CTC1 gene mutation in coats plus syndrome: a case report.
Liang T et al.
Ophthalmic Genetics, 2021
Coats plus syndrome (cerebroretinal microangiopathy with calcifications and cysts-1): A case report.
Morgado F et al.
Pediatric Dermatology, 2021
A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations.
Han E et al.
Ophthalmic Genetics, 2020
Pathogenic TERT promoter variants in telomere diseases.
Gutierrez-Rodrigues F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Impact of germline CTC1 alterations on telomere length in acquired bone marrow failure.
Shen W et al.
British Journal of Haematology, 2019
Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes.
Guidugli L et al.
Leukemia, 2017
Molecular basis of telomere dysfunction in human genetic diseases.
Sarek G et al.
Nature Structural & Molecular Biology, 2015
Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus.
Gu P et al.
Aging Cell, 2013
Molecular basis of telomere syndrome caused by CTC1 mutations.
Chen LY et al.
Genes & Development, 2013
Mutations in the telomere capping complex in bone marrow failure and related syndromes.
Walne AJ et al.
Haematologica, 2013
CTC1 Mutations in a patient with dyskeratosis congenita.
Keller RB et al.
Pediatric Blood & Cancer, 2012
Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.
Polvi A et al.
American Journal of Human Genetics, 2012
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Anderson BH et al.
Nature Genetics, 2012
Coats Plus Syndrome in a Premature Infant, With a Focus on Management.
Sears AE et al.
Journal of Vitreoretinal Diseases, 0
Coats Plus Syndrome Presenting in an Adult.
Kayarian FB et al.
Journal of Vitreoretinal Diseases, 0