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Literature DB >> 3236366

Dyskeratosis congenita.

H R Davidson¹, J M Connor.

Abstract

Entities: Disease

Mesh：

Year: 1988 PMID： 3236366 PMCID： PMC1051614 DOI： 10.1136/jmg.25.12.843

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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17 in total

1. Congenital dyskeratosis. Zinsser-Engman-Cole syndrome with thymic dysplasia and aplastic anemia.

Authors: J A Ortega; V L Swanson; B H Landing; G D Hammond
Journal: Am J Dis Child Date: 1972-11

2. Dyskeratosis congenita: an autosomal dominant disorder.

Authors: P K Tchou; T Kohn
Journal: J Am Acad Dermatol Date: 1982-06 Impact factor: 11.527

3. Dyskeratosis congenita: survival, sister-chromatid exchange and repair following treatments with crosslinking agents.

Authors: Y Kano; Y Fujiwara
Journal: Mutat Res Date: 1982-03 Impact factor: 2.433

4. Constitutional aplastic anaemia: defective haematopoietic stem cell growth in vitro.

Authors: E F Saunders; M H Freedman
Journal: Br J Haematol Date: 1978-10 Impact factor: 6.998

5. Sister chromatid exchange in dyskeratosis congenita lymphocytes.

Authors: W Burgdorf; K Kurvink; J Cervenka
Journal: J Med Genet Date: 1977-08 Impact factor: 6.318

6. Assignment of the gene for dyskeratosis congenita to Xq28.

Authors: J M Connor; D Gatherer; F C Gray; L A Pirrit; N A Affara
Journal: Hum Genet Date: 1986-04 Impact factor: 4.132

7. Intracranial calcifications and dyskeratosis congenita.

Authors: S E Mills; P H Cooper; B E Beacham; K E Greer
Journal: Arch Dermatol Date: 1979-12

8. Psoralen-DNA cross-linking photoadducts in dyskeratosis congenita: delay in excision and promotion of sister chromatid exchange.

Authors: D M Carter; M Pan; A Gaynor; J S McGuire; L Sibrack
Journal: J Invest Dermatol Date: 1979-07 Impact factor: 8.551

9. Dyskeratosis congenita: radiologic features.

Authors: T E Kelly; C B Stelling
Journal: Pediatr Radiol Date: 1982

10. X-linked dyskeratosis congenita with pancytopenia.

Authors: A Gutman; A Frumkin; A Adam; N Bloch-Shtacher; L A Rozenszajn
Journal: Arch Dermatol Date: 1978-11

16 in total

1. A boy with breathlessness, digital clubbing and central cyanosis.

Authors: Sanne J Gordijn; Paul L P Brand
Journal: Eur J Pediatr Date: 2003-12-03 Impact factor: 3.183

2. Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.

Authors: K Devriendt; G Matthijs; E Legius; E Schollen; D Blockmans; C van Geet; H Degreef; J J Cassiman; J P Fryns
Journal: Am J Hum Genet Date: 1997-03 Impact factor: 11.025

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

Authors: Mukand Lal; Manoj Thakur; Sandeep Kashyap
Journal: Indian J Hematol Blood Transfus Date: 2015-02-07 Impact factor: 0.900

5. Vitreous hemorrhage secondary to retinal vasculopathy in a patient with dyskeratosis congenita.

Authors: Alessandro Finzi; Mariachiara Morara; Francesco Pichi; Chiara Veronese; Antonio P Ciardella
Journal: Int Ophthalmol Date: 2013-10-10 Impact factor: 2.031

6. Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita.

Authors: Ekaterini T Tsilou; Neelam Giri; Sarah Weinstein; Christine Mueller; Sharon A Savage; Blanche P Alter
Journal: Ophthalmology Date: 2009-12-22 Impact factor: 12.079