Literature DB >> 12970648

Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome.

Scott Lawrence1, Donna M McDonald-McGinn, Elaine Zackai, Kathleen E Sullivan.   

Abstract

Thrombocytopenia is a common finding in patients with chromosome 22q11.2 deletion syndrome. Patients with chromosome 22q11.2 deletion syndrome (n=112) were analyzed along with 57 age-matched controls. Even after the exclusion of patients with idiopathic thrombocytopenia purpura, the mean platelet count was approximately 70% of the control population.

Entities:  

Mesh：

Year:  2003        PMID： 12970648     DOI： 10.1067/S0022-3476(03)00248-8

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  20 in total

1.  Frequency of thrombocytopenia and large platelets correlates neither with conotruncal cardiac anomalies nor immunological features in the chromosome 22q11.2 deletion syndrome.

Authors:  Véronique Latger-Cannard; Danièle Bensoussan; Marie-Josée Grégoire; François Marcon; Jean-Louis Cloez; Bruno Leheup; Philippe Jonveaux; Thomas Lecompte; Pierre Bordigoni
Journal:  Eur J Pediatr       Date:  2004-06       Impact factor: 3.183

2.  Chromosome 22q11.2 deletion syndrome: an underestimated cause of neuropsychiatric impairment in adolescence.

Authors:  Dimitrios Parissis; Ioannis Milonas
Journal:  J Neurol       Date:  2005-07-27       Impact factor: 4.849

3.  The incidence of thrombocytopenia in children with Cornelia de Lange syndrome.

Authors:  Michele P Lambert; Laird G Jackson; Dinah Clark; Mani Kaur; Ian D Krantz; Matthew A Deardorff
Journal:  Am J Med Genet A       Date:  2010-12-10       Impact factor: 2.802

Review 4.  Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers.

Authors:  Marta Unolt; Paolo Versacci; Silvia Anaclerio; Caterina Lambiase; Giulio Calcagni; Matteo Trezzi; Adriano Carotti; Terrence Blaine Crowley; Elaine H Zackai; Elizabeth Goldmuntz; James William Gaynor; Maria Cristina Digilio; Donna M McDonald-McGinn; Bruno Marino
Journal:  Am J Med Genet A       Date:  2018-04-16       Impact factor: 2.802

5.  Hemizygosity for the gene encoding glycoprotein Ibβ is not responsible for macrothrombocytopenia and bleeding in patients with 22q11 deletion syndrome.

Authors:  N M J Zwifelhofer; R S Bercovitz; L A Weik; A Moroi; S LaRose; P J Newman; D K Newman
Journal:  J Thromb Haemost       Date:  2019-01-22       Impact factor: 5.824

6.  Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome.

Authors:  P Eberle; C Berger; S Junge; S Dougoud; E Valsangiacomo Büchel; M Riegel; A Schinzel; R Seger; T Güngör
Journal:  Clin Exp Immunol       Date:  2008-11-24       Impact factor: 4.330

7.  Hematological abnormalities and 22q11.2 deletion syndrome.

Authors:  Rafael Fabiano Machado Rosa; Rosana Cardoso Manique Rosa; Pedro Paulo Albino Dos Santos; Paulo Ricardo Gazzola Zen; Giorgio Adriano Paskulin
Journal:  Rev Bras Hematol Hemoter       Date:  2011

Review 8.  22q11.2 deletion syndrome.

Authors:  Donna M McDonald-McGinn; Kathleen E Sullivan; Bruno Marino; Nicole Philip; Ann Swillen; Jacob A S Vorstman; Elaine H Zackai; Beverly S Emanuel; Joris R Vermeesch; Bernice E Morrow; Peter J Scambler; Anne S Bassett
Journal:  Nat Rev Dis Primers       Date:  2015-11-19       Impact factor: 52.329

9.  Maturational alterations of peripheral T cell subsets and cytokine gene expression in 22q11.2 deletion syndrome.

Authors:  Y Kanaya; S Ohga; K Ikeda; K Furuno; T Ohno; H Takada; N Kinukawa; T Hara
Journal:  Clin Exp Immunol       Date:  2006-04       Impact factor: 4.330

Review 10.  Molecular genetics of 22q11.2 deletion syndrome.

Authors:  Bernice E Morrow; Donna M McDonald-McGinn; Beverly S Emanuel; Joris R Vermeesch; Peter J Scambler
Journal:  Am J Med Genet A       Date:  2018-10       Impact factor: 2.802
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