Literature DB >> 18564363

Maternal uniparental disomy of chromosome 16 resulting in hemoglobin Bart's hydrops fetalis.

D Wattanasirichaigoon, P Promsonthi, A Chuansumrit, J Leopairut, P Yanatatsaneejit, P Rattanatanyong, T Munkongdee, S Fucharoen, A Mutirangura.   

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Year:  2008        PMID： 18564363     DOI： 10.1111/j.1399-0004.2008.01046.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  3 in total

1.  Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus.

Authors:  Hannah Bogardus; Vincent P Schulz; Yelena Maksimova; Barbara A Miller; Peining Li; Bernard G Forget; Patrick G Gallagher
Journal:  Haematologica       Date:  2014-06-03       Impact factor: 9.941

2.  Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes.

Authors:  Aaron Hamvas; Lawrence M Nogee; Daniel J Wegner; Kelcey Depass; John Christodoulou; Bruce Bennetts; Leon R McQuade; Peter H Gray; Robin R Deterding; Travis R Carroll; Anja Kammesheidt; Laura M Kasch; Shashikant Kulkarni; F Sessions Cole
Journal:  J Pediatr       Date:  2009-08-03       Impact factor: 4.406

3.  Characterisation of two unusual cases of haemoglobin Bart's hydrops foetalis caused by -SEA and large novel α-globin gene cluster deletions.

Authors:  Yunan Wang; Ying Xiong; Chang Liu; Jian Lu; Jicheng Wang; DanQing Qin; Ling Liu; Jing Wu; Xin Zhao; Liyuan Fang; Li Du; Aihua Yin
Journal:  J Int Med Res       Date:  2021-02       Impact factor: 1.671
  3 in total

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