Literature DB >> 28008732

Alveolar capillary dysplasia with misalignment of the pulmonary veins due to novel insertion mutation of FOXF1.

Nobuhiko Nagano1, Kayo Yoshikawa1, Shigeharu Hosono1, Shori Takahashi1, Tomohiro Nakayama2.   

Abstract

Entities:  

Keywords:  zzm321990FOXF1zzm321990; alveolar capillary dysplasia with misalignment of the pulmonary veins; coarctation of the aorta; congenital hydronephrosis; pulmonary hypertension

Year:  2016        PMID： 28008732     DOI： 10.1111/ped.13107

Source DB:  PubMed          Journal:  Pediatr Int        ISSN： 1328-8067            Impact factor:   1.524


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  2 in total

1.  Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.

Authors:  Justyna A Karolak; Qian Liu; Nina G Xie; Lucia R Wu; Gustavo Rocha; Susana Fernandes; Luk Ho-Ming; Ivan F Lo; David Mowat; Elizabeth K Fiorino; Morris Edelman; Joyce Fox; Denise A Hayes; David Witte; Ashley Parrott; Edwina Popek; Przemyslaw Szafranski; David Y Zhang; Pawel Stankiewicz
Journal:  J Mol Diagn       Date:  2020-02-07       Impact factor: 5.568

2.  A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:  Justyna A Karolak; Albino Bacolla; Qian Liu; Patrick E Lantz; John Petty; Pamela Trapane; Karin Panzer; Balagangadhar R Totapally; Zhiyv Niu; Rui Xiao; Nina G Xie; Lucia R Wu; Przemyslaw Szafranski; David Y Zhang; Paweł Stankiewicz
Journal:  Am J Med Genet A       Date:  2019-08-22       Impact factor: 2.802
  2 in total

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