Literature DB >> 15346916

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

Véronique Latger-Cannard1, Danièle Bensoussan, Marie-Josée Grégoire, François Marcon, Jean-Louis Cloez, Bruno Leheup, Philippe Jonveaux, Thomas Lecompte, Pierre Bordigoni.   

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Year:  2004        PMID： 15346916     DOI： 10.1007/s00431-004-1426-9

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


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  8 in total

1.  Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.

Authors:  C Carlson; H Sirotkin; R Pandita; R Goldberg; J McKie; R Wadey; S R Patanjali; S M Weissman; K Anyane-Yeboa; D Warburton; P Scambler; R Shprintzen; R Kucherlapati; B E Morrow
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

2.  Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

Authors:  A F Jawad; D M McDonald-Mcginn; E Zackai; K E Sullivan
Journal:  J Pediatr       Date:  2001-11       Impact factor: 4.406

3.  Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.

Authors:  M L Budarf; B A Konkle; L B Ludlow; D Michaud; M Li; D J Yamashiro; D McDonald-McGinn; E H Zackai; D A Driscoll
Journal:  Hum Mol Genet       Date:  1995-04       Impact factor: 6.150

4.  Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes.

Authors:  K E Sullivan; A F Jawad; P Randall; D A Driscoll; B S Emanuel; D M McDonald-McGinn; E H Zackai
Journal:  Clin Immunol Immunopathol       Date:  1998-02

5.  Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-beta.

Authors:  Taichi Kato; Kazuki Kosaka; Misa Kimura; Shin-Ichiro Imamura; Osamu Yamada; Kazumasa Iwai; Masahiko Ando; Kunitaka Joh-o; Kenji Kuroe; Akira Ohtake; Atsuyoshi Takao; Kazuo Momma; Rumiko Matsuoka
Journal:  Genet Med       Date:  2003 Mar-Apr       Impact factor: 8.822

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

Authors:  Scott Lawrence; Donna M McDonald-McGinn; Elaine Zackai; Kathleen E Sullivan
Journal:  J Pediatr       Date:  2003-08       Impact factor: 4.406

7.  Velocardiofacial syndrome patients with a heterozygous chromosome 22q11 deletion have giant platelets.

Authors:  C Van Geet; K Devriendt; B Eyskens; J Vermylen; M F Hoylaerts
Journal:  Pediatr Res       Date:  1998-10       Impact factor: 3.756

8.  Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

Authors:  A K Ryan; J A Goodship; D I Wilson; N Philip; A Levy; H Seidel; S Schuffenhauer; H Oechsler; B Belohradsky; M Prieur; A Aurias; F L Raymond; J Clayton-Smith; E Hatchwell; C McKeown; F A Beemer; B Dallapiccola; G Novelli; J A Hurst; J Ignatius; A J Green; R M Winter; L Brueton; K Brøndum-Nielsen; P J Scambler
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318
  8 in total
  7 in total

Review 1.  CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.

Authors:  Benjamin J Landis; David S Cooper; Robert B Hinton
Journal:  Cardiol Young       Date:  2015-09-08       Impact factor: 1.093

2.  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

Review 3.  Congenital neutropenia: diagnosis, molecular bases and patient management.

Authors:  Jean Donadieu; Odile Fenneteau; Blandine Beaupain; Nizar Mahlaoui; Christine Bellanné Chantelot
Journal:  Orphanet J Rare Dis       Date:  2011-05-19       Impact factor: 4.123

4.  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 5.  Atypical microdeletion in 22q11 deletion syndrome reveals new candidate causative genes: A case report and literature review.

Authors:  Huiping Shi; Zhaoyue Wang
Journal:  Medicine (Baltimore)       Date:  2018-02       Impact factor: 1.889

6.  Recurrent Evans Syndrome in a Patient With 22q11.2 Deletion Syndrome: An Uncommon Hematological Presentation.

Authors:  Hector A Oliveras-Cordero; Enid Rivera-Jiménez
Journal:  Cureus       Date:  2020-11-16

7.  Thrombocytopenia and Postpartum Hemorrhage in a Woman with Chromosome 22q11.2 Deletion Syndrome.

Authors:  Sarah L Pachtman; Kathy Deng; Deepak Nanda
Journal:  Case Rep Obstet Gynecol       Date:  2016-06-05
  7 in total

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