Literature DB >> 10816398

The clinical and radiological features of Fanconi's anaemia.

E De Kerviler1, A Guermazi, A M Zagdanski, E Gluckman, J Frija.   

Abstract

Fanconi's anaemia is a severe refractory anaemia, associated with congenital malformations in approximately two-thirds of cases. Although these malformations may involve every organ system, suggestive dysmorphic features include growth retardation, radial ray deformities and urinary malformations. These malformations are not specific for Fanconi's anaemia, but should be recognized during pregnancy, or later in childhood, and suggest the possibility of inherited haematopoiesis disorders. Copyright 2000 The Royal College of Radiologists.

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Year:  2000        PMID: 10816398     DOI: 10.1053/crad.2000.0445

Source DB:  PubMed          Journal:  Clin Radiol        ISSN: 0009-9260            Impact factor:   2.350


  17 in total

Review 1.  Fanconi anaemia.

Authors:  M D Tischkowitz; S V Hodgson
Journal:  J Med Genet       Date:  2003-01       Impact factor: 6.318

Review 2.  [Skin diseases and fertility/hormone disorders].

Authors:  William Grobe; Jean-Pierre Allam; Gerhard Haidl
Journal:  Hautarzt       Date:  2018-12       Impact factor: 0.751

Review 3.  The Fanconi anemia ID2 complex: dueling saxes at the crossroads.

Authors:  Rebecca A Boisvert; Niall G Howlett
Journal:  Cell Cycle       Date:  2014       Impact factor: 4.534

Review 4.  Radiographic assessment of congenital malformations of the upper extremity.

Authors:  Matthew J Winfeld; Hansel Otero
Journal:  Pediatr Radiol       Date:  2016-06-15

5.  The zebrafish kidney mutant zeppelin reveals that brca2/fancd1 is essential for pronephros development.

Authors:  Paul T Kroeger; Bridgette E Drummond; Rachel Miceli; Michael McKernan; Gary F Gerlach; Amanda N Marra; Annemarie Fox; Kristen K McCampbell; Ignaty Leshchiner; Adriana Rodriguez-Mari; Ruth BreMiller; Ryan Thummel; Alan J Davidson; John Postlethwait; Wolfram Goessling; Rebecca A Wingert
Journal:  Dev Biol       Date:  2017-06-01       Impact factor: 3.582

6.  Fanconi Anemia Concurrent with an Unusual Thumb Polydactyly: A Case Report.

Authors:  Ahmadreza Afshar
Journal:  Arch Bone Jt Surg       Date:  2016-04

7.  Fanconi anemia: correlating central nervous system malformations and genetic complementation groups.

Authors:  Benjamin A Johnson-Tesch; Rakhee S Gawande; Lei Zhang; Margaret L MacMillan; David R Nascene
Journal:  Pediatr Radiol       Date:  2017-03-10

Review 8.  The Fanconi anemia/BRCA gene network in zebrafish: embryonic expression and comparative genomics.

Authors:  Tom A Titus; Yi-Lin Yan; Catherine Wilson; Amber M Starks; Jonathan D Frohnmayer; Ruth A Bremiller; Cristian Cañestro; Adriana Rodriguez-Mari; Xinjun He; John H Postlethwait
Journal:  Mutat Res       Date:  2008-12-03       Impact factor: 2.433

Review 9.  Hereditary nonmelanoma skin cancer.

Authors:  Vasiliki Nikolaou; Alexander J Stratigos; Hensin Tsao
Journal:  Semin Cutan Med Surg       Date:  2012-12

10.  Disease severity in a mouse model of ataxia telangiectasia is modulated by the DNA damage checkpoint gene Hus1.

Authors:  Gabriel Balmus; Min Zhu; Sucheta Mukherjee; Amy M Lyndaker; Kelly R Hume; Jaesung Lee; Mark L Riccio; Anthony P Reeves; Nathan B Sutter; Drew M Noden; Rachel M Peters; Robert S Weiss
Journal:  Hum Mol Genet       Date:  2012-05-09       Impact factor: 6.150

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