Literature DB >> 8616066

Dyskeratosis congenita: an inherited bone marrow failure syndrome.

I Dokal1.   

Abstract

Entities:  

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Year:  1996        PMID： 8616066     DOI： 10.1046/j.1365-2141.1996.355881.x

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


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  9 in total

1.  Structural Analysis Reveals the Deleterious Effects of Telomerase Mutations in Bone Marrow Failure Syndromes.

Authors:  Hunter Hoffman; Cory Rice; Emmanuel Skordalakes
Journal:  J Biol Chem       Date:  2017-02-01       Impact factor: 5.157

2.  1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis.

Authors:  S W Knight; T J Vulliamy; N S Heiss; G Matthijs; K Devriendt; J M Connor; M D'Urso; A Poustka; P J Mason; I Dokal
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

3.  Aplastic anaemia and reticulated skin hyperpigmentation.

Authors:  H Demiroğlu; M Alikaşifoğlu; B Yalçin; S Dündar
Journal:  Postgrad Med J       Date:  1997-10       Impact factor: 2.401

4.  Nonrandom X-chromosome inactivation in hemopoietic cells from carriers of dyskeratosis congenita.

Authors:  A M Ferraris; G L Forni; R Mangerini; G F Gaetani
Journal:  Am J Hum Genet       Date:  1997-08       Impact factor: 11.025

5.  The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.

Authors:  Xi-Lei Zeng; Naresh R Thumati; Helen B Fleisig; Kyle R Hukezalie; Sharon A Savage; Neelam Giri; Blanche P Alter; Judy M Y Wong
Journal:  Hum Mol Genet       Date:  2011-11-04       Impact factor: 6.150

Review 6.  Familial Interstitial Lung Disease.

Authors:  Jonathan A Kropski
Journal:  Semin Respir Crit Care Med       Date:  2020-04-12       Impact factor: 3.119

7.  X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

Authors:  S W Knight; N S Heiss; T J Vulliamy; S Greschner; G Stavrides; G S Pai; G Lestringant; N Varma; P J Mason; I Dokal; A Poustka
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

8.  Fine mapping of the dyskeratosis congenita locus in Xq28.

Authors:  S W Knight; T Vulliamy; G L Forni; D Oscier; P J Mason; I Dokal
Journal:  J Med Genet       Date:  1996-12       Impact factor: 6.318

Review 9.  Probing the mechanisms underlying human diseases in making ribosomes.

Authors:  Katherine I Farley; Susan J Baserga
Journal:  Biochem Soc Trans       Date:  2016-08-15       Impact factor: 5.407
  9 in total

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