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Items: 1 to 20 of 583

1.

Zinsser-Cole-Engman Syndrome: A Rare Case Report.

Penmatsa C, Jampanapalli SR, Bezawada S, Birapu UK, Radharapu VK.

J Clin Diagn Res. 2016 Jun;10(6):ZD07-9. doi: 10.7860/JCDR/2016/18744.7964. Epub 2016 Jun 1.

2.

[Gastric adenocarcinoma in Zinsser-Cole-Engman syndrome].

Bruna Esteban M, Montalvá Orón E, López Delgado A, Galindo Jara P, Vázquez Prado A, Fabra Ramis R.

Cir Esp. 2006 Sep;80(3):176-7. Spanish.

3.

[Zinsser-Cole-Engman syndrome. Congenital dyskeratosis].

Camacho F, Moreno JC, Sánchez Conejo-Mir J, Sánchez-Pedreño Guillén P.

Med Cutan Ibero Lat Am. 1982;10(6):365-8. Spanish.

PMID:
6764238
4.

Zinsser-Cole-Engman syndrome (dyskeratosis congenita) with cataract--a rare association.

Menon V, Kumar A, Verma L.

Jpn J Ophthalmol. 1986;30(2):192-6.

PMID:
2429001
5.
6.

[The Zinsser-Cole-Engman syndrome. A contribution to congenital poikilodermias as well as a contribution to familial pancytopenias].

Rodermund OE, Hausmann D, Hausmann G.

Z Hautkr. 1979 Apr 1;54(7):273-86. Review. German.

PMID:
375602
7.

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

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

Cell Stem Cell. 2016 Aug 17. pii: S1934-5909(16)30108-4. doi: 10.1016/j.stem.2016.05.024. [Epub ahead of print]

PMID:
27545506
8.

The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita.

Gadalla SM, Khincha PP, Katki HA, Giri N, Wong JY, Spellman S, Yanovski JA, Han JC, De Vivo I, Alter BP, Savage SA.

Mol Genet Genomic Med. 2016 Mar 20;4(4):475-9. doi: 10.1002/mgg3.220. eCollection 2016 Jul.

9.

Avascular Necrosis of Head of Femur in Dyskeratosis Congenita - A Rare Presentation.

Lal M, Thakur M, Kashyap S.

Indian J Hematol Blood Transfus. 2016 Jun;32(Suppl 1):228-32. doi: 10.1007/s12288-015-0511-8. Epub 2015 Feb 7.

PMID:
27408398
10.

DYSKERATOSIS CONGENITA IN TWO ETHIOPIAN BROTHERS.

Gebremedhin A, Bekele A.

Ethiop Med J. 2015 Oct;53(4):215-21.

PMID:
27182588
11.

Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita.

Allingham MJ.

Ophthalmic Surg Lasers Imaging Retina. 2016 Apr 1;47(4):366-8. doi: 10.3928/23258160-20160324-11.

PMID:
27065378
12.

Frosted Branch Angiitis in Pediatric Dyskeratosis Congenita: A Case Report.

Zheng XY, Xu J, Li W, Li SS, Shi CP, Zhao ZY, Mao JH, Chen X.

Medicine (Baltimore). 2016 Mar;95(12):e3106. doi: 10.1097/MD.0000000000003106.

13.

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):1152-8. doi: 10.1016/j.bbmt.2016.03.001. Epub 2016 Mar 8. Review.

PMID:
26968789
14.

Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure.

Dehmel M, Brenner S, Suttorp M, Hahn G, Schützle H, Dinger J, Di Donato N, Mackenroth L, von der Hagen M.

Neuropediatrics. 2016 Jun;47(3):182-6. doi: 10.1055/s-0036-1578799. Epub 2016 Mar 7.

PMID:
26951492
15.

DNA methylation in PRDM8 is indicative for dyskeratosis congenita.

Weidner CI, Lin Q, Birkhofer C, Gerstenmaier U, Kaifie A, Kirschner M, Bruns H, Balabanov S, Trummer A, Stockklausner C, Höchsmann B, Schrezenmeier H, Wlodarski M, Panse J, Brümmendorf TH, Beier F, Wagner W.

Oncotarget. 2016 Mar 8;7(10):10765-72. doi: 10.18632/oncotarget.7458.

16.

Liver Transplantation After Bone Marrow Transplantation for End Stage Liver Disease with Severe Hepatopulmonary Syndrome in Dyskeratosis Congenita: A Literature First.

Mahansaria SS, Kumar S, Bharathy KG, Kumar S, Pamecha V.

J Clin Exp Hepatol. 2015 Dec;5(4):344-7. doi: 10.1016/j.jceh.2015.10.003. Epub 2015 Nov 12.

PMID:
26900277
17.

Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita Cells.

Pereboeva L, Hubbard M, Goldman FD, Westin ER.

PLoS One. 2016 Feb 9;11(2):e0148793. doi: 10.1371/journal.pone.0148793. eCollection 2016.

18.

Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain.

Jullien L, Kannengiesser C, Kermasson L, Cormier-Daire V, Leblanc T, Soulier J, Londono-Vallejo A, de Villartay JP, Callebaut I, Revy P.

Hum Mutat. 2016 May;37(5):469-72. doi: 10.1002/humu.22966. Epub 2016 Feb 23.

PMID:
26847928
19.

A Reduced-Intensity Conditioning Regimen for Patients with Dyskeratosis Congenita Undergoing Hematopoietic Stem Cell Transplantation.

Nelson AS, Marsh RA, Myers KC, Davies SM, Jodele S, O'Brien TA, Mehta PA.

Biol Blood Marrow Transplant. 2016 May;22(5):884-8. doi: 10.1016/j.bbmt.2016.01.026. Epub 2016 Feb 1.

PMID:
26845033
20.

Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.

Burris AM, Ballew BJ, Kentosh JB, Turner CE, Norton SA; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group, Giri N, Alter BP, Nellan A, Gamper C, Hartman KR, Savage SA.

Pediatr Neurol. 2016 Mar;56:62-68.e1. doi: 10.1016/j.pediatrneurol.2015.12.005. Epub 2015 Dec 19.

PMID:
26810774
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