Literature DB >> 27048950

Xq22.1 contiguous gene deletion syndrome of X-linked agammaglobulinemia and Mohr-Tranebjærg syndrome.

Marcus Shaker1, TingJia H Lorigiano2, Anusha Vadlamudi3.   

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Year:  2016        PMID： 27048950     DOI： 10.1016/j.anai.2016.03.014

Source DB:  PubMed          Journal:  Ann Allergy Asthma Immunol        ISSN： 1081-1206            Impact factor:   6.347


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  3 in total

1.  Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy.

Authors:  Hongyang Wang; Li Wang; Ju Yang; Linwei Yin; Lan Lan; Jin Li; Qiujing Zhang; Dayong Wang; Jing Guan; Qiuju Wang
Journal:  BMC Med Genet       Date:  2019-01-11       Impact factor: 2.103

2.  Neurodegenerative changes detected by neuroimaging in a patient with contiguous X-chromosome deletion syndrome encompassing BTK and TIMM8A genes.

Authors:  Anna Szaflarska; Magdalena Rutkowska-Zapała; Anna Gruca; Katarzyna Szewczyk; Mirosław Bik-Multanowski; Marzena Lenart; Marta Surman; Ilona Kopyta; Ewa Głuszkiewicz; Magdalena Machnikowska-Sokołowska; Katarzyna Gruszczyńska; Anna Pituch-Noworolska; Maciej Siedlar
Journal:  Cent Eur J Immunol       Date:  2018-06-30       Impact factor: 2.085

3.  Distinct Clinical Features and Novel Mutations in Taiwanese Patients With X-Linked Agammaglobulinemia.

Authors:  Yu-Hsin Yeh; Meng-Ying Hsieh; Wen-I Lee; Jing-Long Huang; Li-Chen Chen; Kuo-Wei Yeh; Liang-Shiou Ou; Tsung-Chieh Yao; Chao-Yi Wu; Syh-Jae Lin
Journal:  Front Immunol       Date:  2020-09-04       Impact factor: 7.561
  3 in total

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