Literature DB >> 9311754

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

A M Ferraris, G L Forni, R Mangerini, G F Gaetani.   

Abstract

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Year:  1997        PMID： 9311754      PMCID： PMC1715903          DOI： 10.1016/S0002-9297(07)64075-0

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  16 in total

1.  Polyclonal origin of medullary carcinoma of the thyroid in multiple endocrine neoplasia type 2.

Authors:  A M Ferraris; R Mangerini; G F Gaetani; C Romei; A Pinchera; F Pacini
Journal:  Hum Genet       Date:  1997-02       Impact factor: 4.132

2.  "Stem cell" origin of the hematopoietic defect in dyskeratosis congenita.

Authors:  J C Marsh; A J Will; J M Hows; P Sartori; P J Darbyshire; P J Williamson; D G Oscier; T M Dexter; N G Testa
Journal:  Blood       Date:  1992-06-15       Impact factor: 22.113

3.  Expression of the gene defect in X-linked agammaglobulinemia.

Authors:  M E Conley; P Brown; A R Pickard; R H Buckley; D S Miller; W H Raskind; J W Singer; P J Fialkow
Journal:  N Engl J Med       Date:  1986-08-28       Impact factor: 91.245

4.  Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation.

Authors:  J M Puck; R L Nussbaum; M E Conley
Journal:  J Clin Invest       Date:  1987-05       Impact factor: 14.808

Review 5.  Dyskeratosis congenita: an inherited bone marrow failure syndrome.

Authors:  I Dokal
Journal:  Br J Haematol       Date:  1996-03       Impact factor: 6.998

6.  Dyskeratosis congenita: three additional families show linkage to a locus in Xq28.

Authors:  R Arngrimsson; I Dokal; L Luzzatto; J M Connor
Journal:  J Med Genet       Date:  1993-07       Impact factor: 6.318

7.  Dyskeratosis congenita: unusual presenting features within a kindred.

Authors:  G L Forni; C Melevendi; S Jappelli; A Rasore-Quartino
Journal:  Pediatr Hematol Oncol       Date:  1993 Apr-Jun       Impact factor: 1.969

8.  Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

Authors:  R C Allen; H Y Zoghbi; A B Moseley; H M Rosenblatt; J W Belmont
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

9.  Allelic exclusion of glucose-6-phosphate dehydrogenase in platelets and T lymphocytes from a Wiskott-Aldrich syndrome carrier.

Authors:  W J Gealy; J M Dwyer; J B Harley
Journal:  Lancet       Date:  1980-01-12       Impact factor: 79.321

10.  Langerhans'-cell histiocytosis (histiocytosis X)--a clonal proliferative disease.

Authors:  C L Willman; L Busque; B B Griffith; B E Favara; K L McClain; M H Duncan; D G Gilliland
Journal:  N Engl J Med       Date:  1994-07-21       Impact factor: 91.245
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  7 in total

Review 1.  X chromosome inactivation in clinical practice.

Authors:  Karen Helene Orstavik
Journal:  Hum Genet       Date:  2009-04-25       Impact factor: 4.132

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.  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

4.  Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome.

Authors:  S T Holden; J J Cox; I Kesterton; N S Thomas; C Carr; C G Woods
Journal:  J Med Genet       Date:  2006-05-05       Impact factor: 6.318

5.  A novel cause of DKC1-related bone marrow failure: Partial deletion of the 3' untranslated region.

Authors:  Jonathan W Arthur; Hilda A Pickett; Pasquale M Barbaro; Tatjana Kilo; Raja S Vasireddy; Traude H Beilharz; David R Powell; Emma L Hackett; Bruce Bennetts; Julie A Curtin; Kristi Jones; John Christodoulou; Roger R Reddel; Juliana Teo; Tracy M Bryan
Journal:  EJHaem       Date:  2021-01-26

6.  Atypical X-chromosome inactivation in an X;1 translocation patient demonstrating Xq28 functional disomy.

Authors:  Catherine E Cottrell; Annemarie Sommer; Gail D Wenger; Steven Bullard; Tamara Busch; Katherine Nash Krahn; Andrew C Lidral; Julie M Gastier-Foster
Journal:  Am J Med Genet A       Date:  2009-03       Impact factor: 2.802

7.  Heterozygous Deletion of the SHOX Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI.

Authors:  Yixi Sun; Yuqin Luo; Yeqing Qian; Min Chen; Liya Wang; Hongge Li; Yu Zou; Minyue Dong
Journal:  Front Genet       Date:  2019-11-06       Impact factor: 4.599
  7 in total

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