Literature DB >> 28341171

Chronic granulomatous disease caused by maternal uniparental isodisomy of chromosome 16.

María Bravo García-Morato1, Julián Nevado2, Luis Ignacio González-Granado3, Ana Sastre Urgelles4, Rebeca Rodríguez Pena5, Antonio Ferreira Cerdán5.   

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Year:  2017        PMID： 28341171     DOI： 10.1016/j.jaip.2017.01.018

Source DB:  PubMed          Journal:  J Allergy Clin Immunol Pract


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  3 in total

1.  E1021K Homozygous Mutation in PIK3CD Leads to Activated PI3K-Delta Syndrome 1.

Authors:  Yanping Wang; Xuemei Chen; Qiuyun Yang; Wenjing Tang; Yanjun Jia; Lina Zhou; Yunfei An; Zhiyong Zhang; Xuemei Tang; Xiaodong Zhao
Journal:  J Clin Immunol       Date:  2020-01-17       Impact factor: 8.317

2.  LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.

Authors:  Pere Soler-Palacín; Marina Garcia-Prat; Andrea Martín-Nalda; Clara Franco-Jarava; Jacques G Rivière; Alberto Plaja; Daniela Bezdan; Mattia Bosio; Mónica Martínez-Gallo; Stephan Ossowski; Roger Colobran
Journal:  Front Immunol       Date:  2018-10-16       Impact factor: 7.561

3.  Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology.

Authors:  Takanobu Inoue; Hideaki Yagasaki; Junko Nishioka; Akie Nakamura; Keiko Matsubara; Satoshi Narumi; Kazuhiko Nakabayashi; Kazuki Yamazawa; Tomoko Fuke; Akira Oka; Tsutomu Ogata; Maki Fukami; Masayo Kagami
Journal:  J Med Genet       Date:  2018-09-21       Impact factor: 6.318
  3 in total

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