Literature DB >> 14652749

A boy with breathlessness, digital clubbing and central cyanosis.

Sanne J Gordijn1, Paul L P Brand.   

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Year:  2003        PMID: 14652749     DOI: 10.1007/s00431-003-1368-7

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


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  9 in total

Review 1.  Dyskeratosis congenita in all its forms.

Authors:  I Dokal
Journal:  Br J Haematol       Date:  2000-09       Impact factor: 6.998

2.  Interstitial pulmonary disease associated with dyskeratosis congenita.

Authors:  S R Paul; A Perez-Atayde; D A Williams
Journal:  Am J Pediatr Hematol Oncol       Date:  1992

3.  Dyskeratosis congenita.

Authors:  H R Davidson; J M Connor
Journal:  J Med Genet       Date:  1988-12       Impact factor: 6.318

Review 4.  Dyskeratosis congenita.

Authors:  R A Drachtman; B P Alter
Journal:  Dermatol Clin       Date:  1995-01       Impact factor: 3.478

5.  Bronchoalveolar disease in dyskeratosis congenita.

Authors:  F Verra; S Kouzan; P Saiag; J Bignon; H de Cremoux
Journal:  Eur Respir J       Date:  1992-04       Impact factor: 16.671

6.  Multiple intrapulmonary arteriovenous fistulas in childhood.

Authors:  A Sands; E Dalzell; B Craig; M Shields
Journal:  Pediatr Cardiol       Date:  2000 Sep-Oct       Impact factor: 1.655

7.  Dyskeratosis Congenita (DC) Registry: identification of new features of DC.

Authors:  S Knight; T Vulliamy; A Copplestone; E Gluckman; P Mason; I Dokal
Journal:  Br J Haematol       Date:  1998-12       Impact factor: 6.998

Review 8.  Dyskeratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature.

Authors:  C Sirinavin; A A Trowbridge
Journal:  J Med Genet       Date:  1975-12       Impact factor: 6.318

Review 9.  Dyskeratosis congenita: clinical and genetic heterogeneity. Report of a new case and review of the literature.

Authors:  R A Drachtman; B P Alter
Journal:  Am J Pediatr Hematol Oncol       Date:  1992-11
  9 in total
  3 in total

1.  Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders.

Authors:  Amany I Gorgy; Naudia L Jonassaint; Susan E Stanley; Ayman Koteish; Amy E DeZern; Jolan E Walter; Sabrina C Sopha; James P Hamilton; Julie Hoover-Fong; Allen R Chen; Robert A Anders; Ihab R Kamel; Mary Armanios
Journal:  Chest       Date:  2015-10       Impact factor: 9.410

2.  Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders.

Authors:  Payal P Khincha; Alison A Bertuch; Suneet Agarwal; Danielle M Townsley; Neal S Young; Siobán Keel; Akiko Shimamura; Farid Boulad; Tregony Simoneau; Henri Justino; Christin Kuo; Steven Artandi; Charles McCaslin; Des W Cox; Sara Chaffee; Bridget F Collins; Neelam Giri; Blanche P Alter; Ganesh Raghu; Sharon A Savage
Journal:  Eur Respir J       Date:  2017-01-25       Impact factor: 16.671

Review 3.  An update on the biology and management of dyskeratosis congenita and related telomere biology disorders.

Authors:  Marena R Niewisch; Sharon A Savage
Journal:  Expert Rev Hematol       Date:  2019-09-10       Impact factor: 2.819

  3 in total

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