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Items: 20

1.

A case report of heterozygous TINF2 gene mutation associated with pulmonary fibrosis in a patient with dyskeratosis congenita.

Du H, Guo Y, Ma D, Tang K, Cai D, Luo Y, Xie C.

Medicine (Baltimore). 2018 May;97(19):e0724. doi: 10.1097/MD.0000000000010724.

2.

Cytomegalovirus Retinitis as a Presenting Feature of Multisystem Disorder: Dyskeratosis Congenita.

Parchand S, Barwad A.

Middle East Afr J Ophthalmol. 2017 Oct-Dec;24(4):219-221. doi: 10.4103/meajo.MEAJO_230_15.

3.

Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita.

Bizarro J, Meier UT.

Mol Genet Genomic Med. 2017 Nov;5(6):805-808. doi: 10.1002/mgg3.314. Epub 2017 Aug 15.

4.

Progressive reticulate skin pigmentation and anonychia in a patient with bone marrow failure.

Ward SC, Savage SA, Giri N, Alter BP, Cowen EW.

J Am Acad Dermatol. 2017 Dec;77(6):1194-1198. doi: 10.1016/j.jaad.2017.07.018. Epub 2017 Oct 21.

PMID:
29033247
5.

Malignant transformation of oral leukoplakia in a patient with dyskeratosis congenita.

Bongiorno M, Rivard S, Hammer D, Kentosh J.

Oral Surg Oral Med Oral Pathol Oral Radiol. 2017 Oct;124(4):e239-e242. doi: 10.1016/j.oooo.2017.08.001. Epub 2017 Aug 12.

PMID:
28923296
6.

Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives.

Khincha PP, Dagnall CL, Hicks B, Jones K, Aviv A, Kimura M, Katki H, Aubert G, Giri N, Alter BP, Savage SA, Gadalla SM.

Int J Mol Sci. 2017 Aug 13;18(8). pii: E1765. doi: 10.3390/ijms18081765.

7.

p53 Mediates Failure of Human Definitive Hematopoiesis in Dyskeratosis Congenita.

Fok WC, Niero ELO, Dege C, Brenner KA, Sturgeon CM, Batista LFZ.

Stem Cell Reports. 2017 Aug 8;9(2):409-418. doi: 10.1016/j.stemcr.2017.06.015. Epub 2017 Jul 27.

8.

Allogeneic Hematopoietic Cell Transplantation for Dyskeratosis Congenita: A Report of 3 Cases.

Tamura S, Imamura T, Urata T, Kobayashi M, Gen M, Tomii T, Do J, Osone S, Ishida H, Hosoi H, Kuroda H.

J Pediatr Hematol Oncol. 2017 Oct;39(7):e394-e398. doi: 10.1097/MPH.0000000000000844.

PMID:
28538506
9.

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.

Dietz AC, Savage SA, Vlachos A, Mehta PA, Bresters D, Tolar J, Bonfim C, Dalle JH, de la Fuente J, Skinner R, Boulad F, Duncan CN, Baker KS, Pulsipher MA, Lipton JM, Wagner JE, Alter BP.

Biol Blood Marrow Transplant. 2017 Sep;23(9):1422-1428. doi: 10.1016/j.bbmt.2017.05.022. Epub 2017 May 19. Review.

PMID:
28533057
10.

Dyskeratosis Congenita.

Kelmenson DA, Hanley M.

N Engl J Med. 2017 Apr 13;376(15):1460. doi: 10.1056/NEJMicm1613081. No abstract available.

11.

Diffuse Mesangial Sclerosis in a Child With Dyskeratosis Congenita Leading to End-stage Renal Disease.

Kamel A, Sayari T, Jellouli M, Hammi Y, Louzir RG, Gargah T.

Iran J Kidney Dis. 2016 Nov;10(6):416-418.

12.

Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations.

Xu J, Khincha PP, Giri N, Alter BP, Savage SA, Wong JM.

Am J Hematol. 2016 Dec;91(12):1215-1220. doi: 10.1002/ajh.24545. Epub 2016 Nov 4.

13.

Structural and functional consequences of a disease mutation in the telomere protein TPP1.

Bisht K, Smith EM, Tesmer VM, Nandakumar J.

Proc Natl Acad Sci U S A. 2016 Nov 15;113(46):13021-13026. Epub 2016 Nov 2.

14.

Clonal hematopoiesis in patients with dyskeratosis congenita.

Perdigones N, Perin JC, Schiano I, Nicholas P, Biegel JA, Mason PJ, Babushok DV, Bessler M.

Am J Hematol. 2016 Dec;91(12):1227-1233. doi: 10.1002/ajh.24552. Epub 2016 Oct 21.

15.

Allogeneic hematopoietic stem cell transplantation for dyskeratosis congenita.

Elmahadi S, Muramatsu H, Kojima S.

Curr Opin Hematol. 2016 Nov;23(6):501-507. Review.

PMID:
27607446
16.

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

Thanos A, Todorich B, Hypes SM, Yonekawa Y, Thomas B, Randhawa S, Drenser KA, Trese MT.

Retin Cases Brief Rep. 2017 Winter;11 Suppl 1:S187-S190. doi: 10.1097/ICB.0000000000000430.

PMID:
27685501
17.

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.

Walne AJ, Collopy L, Cardoso S, Ellison A, Plagnol V, Albayrak C, Albayrak D, Kilic SS, Patıroglu T, Akar H, Godfrey K, Carter T, Marafie M, Vora A, Sundin M, Vulliamy T, Tummala H, Dokal I.

Haematologica. 2016 Oct;101(10):1180-1189. Epub 2016 Sep 9.

18.

Enhancing a Wnt-Telomere Feedback Loop Restores Intestinal Stem Cell Function in a Human Organotypic Model of Dyskeratosis Congenita.

Woo DH, Chen Q, Yang TL, Glineburg MR, Hoge C, Leu NA, Johnson FB, Lengner CJ.

Cell Stem Cell. 2016 Sep 1;19(3):397-405. doi: 10.1016/j.stem.2016.05.024. Epub 2016 Aug 18.

19.

Hypo- and Hyper-Assembly Diseases of RNA-Protein Complexes.

Shukla S, Parker R.

Trends Mol Med. 2016 Jul;22(7):615-628. doi: 10.1016/j.molmed.2016.05.005. Epub 2016 Jun 3. Review.

20.

Survival after Hematopoietic Stem Cell Transplant in Patients with Dyskeratosis Congenita: Systematic Review of the Literature.

Barbaro P, Vedi A.

Biol Blood Marrow Transplant. 2016 Jul;22(7):1152-1158. doi: 10.1016/j.bbmt.2016.03.001. Epub 2016 Mar 8. Review.

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