Publications by authors named "Xuanzhu Liu"

19Publications

A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD).

Eur J Med Genet 2015 Dec 6;58(12):642-9. Epub 2015 Nov 6.

University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.11.001DOI Listing
December 2015

Exome sequencing identified FGF12 as a novel candidate gene for Kashin-Beck disease.

Funct Integr Genomics 2016 Jan 20;16(1):13-7. Epub 2015 Aug 20.

Key Laboratory of Trace Elements and Endemic Diseases of Ministry of Health, School of Public Health, Health Science Center, Xi'an Jiaotong University, Xi'an, People's Republic of China.

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http://dx.doi.org/10.1007/s10142-015-0462-zDOI Listing
January 2016

Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.

Gene 2015 Jul 18;566(1):84-8. Epub 2015 Apr 18.

Department of Dermatology, Qilu Hospital of Shandong University, Jinan 250012, China. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2015.04.039DOI Listing
July 2015

Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas.

PLoS One 2013 29;8(8):e72316. Epub 2013 Aug 29.

Key Laboratory of Environment and Gene Related Diseases of Ministry Education, Faculty of Public Health, College of Medicine, Xi'an Jiaotong University, Xi'an, Shaanxi, China.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0072316PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3757002PMC
April 2014

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.

Mol Genet Metab 2012 Nov 7;107(3):403-8. Epub 2012 Sep 7.

Unit of Molecular Neurogenetics, Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, via Temolo 4, 20126 Milan, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2012.08.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3490101PMC
November 2012