L. Du

发表

Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31

X. Liu, Shoeb Ahmad, D. Yan, 2008, Human Genetics.

Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.

J. Seidman, M. Bitner-Glindzicz, Xiangyin Kong, 2010, American journal of human genetics.

Mitochondrial DNA mutation screening in an ethnically diverse nonsyndromic deafness cohort.

X. Liu, D. Yan, S. Angeli, 2012, Genetic Testing and Molecular Biomarkers.

The prevalence of connexin 26 (GJB2) mutations in the Chinese population

F. Telischi, X. Liu, T. Balkany, 2002, Human Genetics.

Audioprofiles and antioxidant enzyme genotypes in presbycusis

D. Yan, S. Angeli, X. Ouyang, 2012, The Laryngoscope.

Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China.

X. Liu, Yan Ding, D. Yan, 2015, Genetic testing and molecular biomarkers.

Mutation Analysis of Slc26a4 in Mainland Chinese Patients with Enlarged Vestibular Aqueduct

X. Liu, D. Yan, B. Han, 2009, Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery.

Mutation screening of the GJA7 (Cx45) gene in a large international series of probands with nonsyndromic hearing impairment.

M. Tekin, X. Liu, D. Yan, 2011, Genetic testing and molecular biomarkers.

Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.

M. Ramsay, X. Liu, C. Penn, 2011, International journal of pediatric otorhinolaryngology.

Audiological and genetic features of the mtDNA mutations

X. Liu, D. Yan, S. Angeli, 2008, Acta oto-laryngologica.

Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II

S. Jacobson, X. Liu, D. Yan, 2009, Journal of Human Genetics.

Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss.

K. Arnos, A. Pandya, D. Corey, 2003, Human molecular genetics.

A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late‐onset non‐syndromic hearing loss in a Chinese family

S. Z. Yang, D. Yan, G. Feng, 2007, Clinical genetics.

The genetic bases for non-syndromic hearing loss among Chinese

X. Liu, D. Yan, X. Ouyang, 2009, Journal of Human Genetics.

Whole-Exome Sequencing to Decipher the Genetic Heterogeneity of Hearing Loss in a Chinese Family with Deaf by Deaf Mating

X. Liu, D. Yan, L. Du, 2014, PloS one.

Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.

X. Liu, K. Johnson, D. Yan, 2005, Human molecular genetics.

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population

Steve D. M. Brown, S. Jacobson, X. Liu, 2005, Human Genetics.

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness

A. Pandya, C. Petit, X. Liu, 2002, Human Genetics.

An isoform of GTPase regulator DOCK4 localizes to the stereocilia in the inner ear and binds to harmonin (USH1C).

D. Yan, C. Giallourakis, V. Yajnik, 2006, Journal of molecular biology.

Mutation of the ATP-gated P2X2 receptor leads to progressive hearing loss and increased susceptibility to noise

T. Walsh, M. King, Hong-Bo Zhao, 2013, Proceedings of the National Academy of Sciences.

Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians

A. Pandya, X. Liu, N. Matsushiro, 2003, Human Genetics.

Etiologic diagnosis of sensorineural hearing loss in adults

F. Telischi, X. Liu, T. Balkany, 2005, Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery.

Clinical comparison of hearing‐impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations

X. Liu, D. Yan, S. Angeli, 2011, The Laryngoscope.

Antioxidant enzymes, presbycusis, and ethnic variability

Xue Zhong Liu, Anthony Bared, X. Liu, 2010, Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery.

A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12

A. Pandya, S. Blanton, D. Yan, 2005, Journal of Medical Genetics.

Paternal uniparental disomy of chromosome 13 causing homozygous 35delG mutation of the GJB2 gene and hearing loss

D. Yan, S. Angeli, X. Ouyang, 2007, American journal of medical genetics. Part A.

Audiological and genetic studies on large families with non-syndromic deafness

X. Liu, D. Yan, S. Angeli, 2008 .

A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter

A. Pandya, X. Liu, S. Blanton, 2002, Journal of medical genetics.

Audiologic and genetic features of the A3243G mtDNA mutation.

X. Liu, D. Yan, X. Ouyang, 2013, Genetic testing and molecular biomarkers.

Refinement of the DFNA41 locus and candidate genes analysis

Xiaofeng Zhu, X. Liu, D. Yan, 2005, Journal of Human Genetics.

Etiologic Diagnosis of Nonsyndromic Genetic Hearing Loss in Adult vs Pediatric Populations

X. Liu, D. Yan, S. Angeli, 2011, Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery.