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Results for
""Dyskeratosis Congenita""[mesh_terms]

16 Results

Searching titles within these results

Distinct pattern of neostriatal calcifications in dyskeratosis congenita: A case report and literature review.

Maryam Abdollahi, MingYang Meah Gao, David G Munoz

Clinical neuropathology 2019;37(6):277-282

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Abstract

The wide-ranging clinical implications of the short telomere syndromes.

P M Barbaro, D S Ziegler, R R Reddel

Internal medicine journal 2017;46(4):393-403

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Abstract

Dyskeratosis congenita.

Tom Vulliamy, Inderjeet Dokal

Seminars in hematology 2006;43(3):157-66

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Abstract

The pathology of bone marrow failure.

Roos J Leguit, Jan G van den Tweel

Histopathology 2011;57(5):655-70

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Abstract

Revesz syndrome revisited.

Michael Karremann, Eva Neumaier-Probst, Frank Schlichtenbrede, Fabian Beier, Tim H Brümmendorf, Friedrich W Cremer, Peter Bader, Matthias Dürken

Orphanet journal of rare diseases 2021;15(1):299

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Clinical Use of ZSCAN4 for Telomere Elongation in Hematopoietic Stem Cells.

Stella M Davies, Hong Yu, Geraldine Aubert, Kasiani C Myers, Carolyn Lutzko, Robin Wahle, David D Grier, Kevin Norris, Duncan M Baird, Minako Koga, Akihiro C Ko, Tomokazu Amano, Misa Amano, Minoru S H Ko

NEJM evidence 2025;4(3):EVIDoa2400252

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Coats plus syndrome (cerebroretinal microangiopathy with calcifications and cysts-1): A case report.

Francisca Morgado, Mariana Batista, Ana Moreno, Inês Coutinho

Pediatric dermatology 2021;38(1):191-193

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RETINAL VASCULAR TORTUOSITY AND EXUDATIVE RETINOPATHY IN A FAMILY WITH DYSKERATOSIS CONGENITA MASQUERADING AS FAMILIAL EXUDATIVE VITREORETINOPATHY.

Aristomenis Thanos, Bozho Todorich, Stephen M Hypes, Yoshihiro Yonekawa, Benjamin Thomas, Sandeep Randhawa, Kimberly A Drenser, Michael T Trese

Retinal cases & brief reports 2017;11 Suppl 1():S187-S190

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A unique homozygous WRAP53 Arg298Trp mutation underlies dyskeratosis congenita in a Chinese Han family.

Yingqi Shao, Sizhou Feng, Jinbo Huang, Jiali Huo, Yahong You, Yizhou Zheng

BMC medical genetics 2018;19(1):40

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Single-molecule analysis of the human telomerase RNA.dyskerin interaction and the effect of dyskeratosis congenita mutations.

Beth Ashbridge, Angel Orte, Justin A Yeoman, Michael Kirwan, Tom Vulliamy, Inderjeet Dokal, David Klenerman, Shankar Balasubramanian

Biochemistry 2009;48(46):10858-65

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Late Effects Screening Guidelines after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement From the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects After Pediatric HCT.

Andrew C Dietz, Sharon A Savage, Adrianna Vlachos, Parinda A Mehta, Dorine Bresters, Jakub Tolar, Carmem Bonfim, Jean Hugues Dalle, Josu de la Fuente, Roderick Skinner, Farid Boulad, Christine N Duncan, K Scott Baker, Michael A Pulsipher, Jeffrey M Lipton, John E Wagner, Blanche P Alter

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2018;23(9):1422-1428

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RNA-guided isomerization of uridine to pseudouridine--pseudouridylation.

Yi-Tao Yu, U Thomas Meier

RNA biology 2015;11(12):1483-94

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Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric Hematopoietic Cell Transplantation.

Andrew C Dietz, Parinda A Mehta, Adrianna Vlachos, Sharon A Savage, Dorine Bresters, Jakub Tolar, Farid Boulad, Jean Hugues Dalle, Carmem Bonfim, Josu de la Fuente, Christine N Duncan, K Scott Baker, Michael A Pulsipher, Jeffrey M Lipton, John E Wagner, Blanche P Alter

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2018;23(5):726-735

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GSE4, a Small Dyskerin- and GSE24.2-Related Peptide, Induces Telomerase Activity, Cell Proliferation and Reduces DNA Damage, Oxidative Stress and Cell Senescence in Dyskerin Mutant Cells.

Laura Iarriccio, Cristina Manguán-García, Laura Pintado-Berninches, José Miguel Mancheño, Antonio Molina, Rosario Perona, Leandro Sastre

PloS one 2016;10(11):e0142980

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Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita.

A C Dietz, P J Orchard, K S Baker, R H Giller, S A Savage, B P Alter, J Tolar

Bone marrow transplantation 2011;46(1):98-104

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Results: 1 – 15 / 16

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Results for ""Dyskeratosis Congenita""[mesh_terms]

Distinct pattern of neostriatal calcifications in dyskeratosis congenita: A case report and literature review.

The wide-ranging clinical implications of the short telomere syndromes.

Dyskeratosis congenita.

The pathology of bone marrow failure.

Revesz syndrome revisited.

Clinical Use of ZSCAN4 for Telomere Elongation in Hematopoietic Stem Cells.

Coats plus syndrome (cerebroretinal microangiopathy with calcifications and cysts-1): A case report.

RETINAL VASCULAR TORTUOSITY AND EXUDATIVE RETINOPATHY IN A FAMILY WITH DYSKERATOSIS CONGENITA MASQUERADING AS FAMILIAL EXUDATIVE VITREORETINOPATHY.

A unique homozygous WRAP53 Arg298Trp mutation underlies dyskeratosis congenita in a Chinese Han family.

Single-molecule analysis of the human telomerase RNA.dyskerin interaction and the effect of dyskeratosis congenita mutations.

Late Effects Screening Guidelines after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement From the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects After Pediatric HCT.

RNA-guided isomerization of uridine to pseudouridine--pseudouridylation.

GSE4, a Small Dyskerin- and GSE24.2-Related Peptide, Induces Telomerase Activity, Cell Proliferation and Reduces DNA Damage, Oxidative Stress and Cell Senescence in Dyskerin Mutant Cells.

Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita.

Results for
""Dyskeratosis Congenita""[mesh_terms]