Literature DB >> 19864007

ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency.

Maurilia Fiorini, Giovanna Piovani, Richard F Schumacher, Chiara Magri, Valeria Bertini, Evelina Mazzolari, Lucia Notarangelo, Luigi D Notarangelo, Sergio Barlati.   

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Year:  2009        PMID： 19864007     DOI： 10.1016/j.jaci.2009.07.058

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  6 in total

Review 1.  Hematologically important mutations: leukocyte adhesion deficiency (first update).

Authors:  Edith van de Vijver; Anne Maddalena; Özden Sanal; Steven M Holland; Gulbu Uzel; Manisha Madkaikar; Martin de Boer; Karin van Leeuwen; M Yavuz Köker; Nima Parvaneh; Alain Fischer; S K Alex Law; Nigel Klein; F Ilhan Tezcan; Ekrem Unal; Turkan Patiroglu; Bernd H Belohradsky; Klaus Schwartz; Raz Somech; Taco W Kuijpers; Dirk Roos
Journal:  Blood Cells Mol Dis       Date:  2011-11-30       Impact factor: 3.039

Review 2.  Advances in basic and clinical immunology in 2009.

Authors:  Javier Chinen; William T Shearer
Journal:  J Allergy Clin Immunol       Date:  2010-03       Impact factor: 10.793

3.  Report of a Chinese Cohort with Leukocyte Adhesion Deficiency-I and Four Novel Mutations.

Authors:  Bijun Sun; Qiuyu Chen; Xiaolong Dong; Danru Liu; Jia Hou; Wenjie Wang; Wenjing Ying; Xiaoying Hui; Qinhua Zhou; Haili Yao; Jinqiao Sun; Xiaochuan Wang
Journal:  J Clin Immunol       Date:  2019-03-27       Impact factor: 8.317

4.  The effect of gentamicin-induced readthrough on a novel premature termination codon of CD18 leukocyte adhesion deficiency patients.

Authors:  Amos J Simon; Atar Lev; Baruch Wolach; Ronit Gavrieli; Ninette Amariglio; Ester Rosenthal; Ephraim Gazit; Eran Eyal; Gideon Rechavi; Raz Somech
Journal:  PLoS One       Date:  2010-11-16       Impact factor: 3.240

5.  Clinical and laboratory findings in patients with leukocyte adhesion deficiency type I: A multicenter study in Turkey.

Authors:  Ismail Yaz; Begum Ozbek; Hacer Neslihan Bildik; Cagman Tan; Sevil Oskay Halacli; Elif Soyak Aytekin; Saliha Esenboga; Sukru Cekic; Sara Sebnem Kilic; Ozlem Keskin; Karin van Leeuwen; Dirk Roos; Deniz Cagdas; Ilhan Tezcan
Journal:  Clin Exp Immunol       Date:  2021-08-05       Impact factor: 5.732

6.  De novo 1Mb interstitial deletion of 8p22 in a patient with slight mental retardation and speech delay.

Authors:  Giovanna Piovani; Giulia Savio; Michele Traversa; Alba Pilotta; Giuseppina De Petro; Sergio Barlati; Chiara Magri
Journal:  Mol Cytogenet       Date:  2014-04-15       Impact factor: 2.009
  6 in total

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