Xue Z Liu

Professor

  • 6427 Citations
1993 …2023
If you made any changes in Pure, your changes will be visible here soon.

Research Output 1993 2019

2002
7 Citations (Scopus)

The clinical presentation of DFNB2.

Liu, X. Z., Oct 31 2002, In : Advances in Oto-Rhino-Laryngology. 61, p. 120-123 4 p.

Research output: Contribution to journalArticle

Auditory Threshold
Acoustic Reflex
Pure-Tone Audiometry
Dyneins
Retinitis Pigmentosa
134 Citations (Scopus)

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

Liu, X. Z., Xia, X. J., Ke, X. M., Ouyang, X. M., Du, L. L., Liu, Y. H., Angeli, S. I., Telischi, F. F., Nance, W. E., Balkany, T. & Xu, L. R., Oct 1 2002, In : Human Genetics. 111, 4-5, p. 394-397 4 p.

Research output: Contribution to journalArticle

Mutation
Population
Deafness
Connexin 26
Alleles
2001
57 Citations (Scopus)

Connexin 26 (GJB2) mutations in the Turkish population: Implications for the origin and high frequency of the 35delG mutation in Caucasians

Tekin, M., Akar, N., Cin, Ş., Blanton, S. H., Xia, X. J., Liu, X. Z., Nance, W. E. & Pandya, A., Jun 11 2001, In : Human Genetics. 108, 5, p. 385-389 5 p.

Research output: Contribution to journalArticle

Mutation Rate
Mutation
Deafness
Population
Founder Effect
37 Citations (Scopus)

Epidemiological studies on hearing impairment with reference to genetic factors in Sichuan, China

Liu, X. Z., Li Rong Xu, R. X., Sismanis, A., Hu, Y., Si Ling Zhang, L. Z., Nance, W. E. & Xu, Y., Apr 28 2001, In : Annals of Otology, Rhinology and Laryngology. 110, 4, p. 356-363 8 p.

Research output: Contribution to journalArticle

Hearing Loss
Epidemiologic Studies
China
Otitis Media
Hearing
20 Citations (Scopus)

Haplotype analysis of the USH1D locus and genotype-phenotype correlations

Liu, X. Z., Blanton, S. H., Bitner-Glindzicz, M., Pandya, A., Landa, B., MacArdle, B., Rajput, K., Bellman, S., Webb, B. T., Ping, X., Smith, R. J. H. & Nance, W. E., Aug 6 2001, In : Clinical Genetics. 60, 1, p. 58-62 5 p.

Research output: Contribution to journalArticle

Genetic Association Studies
Usher Syndromes
Haplotypes
Founder Effect
Mutation
109 Citations (Scopus)

Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness

Liu, X. Z., Xia, X. J., Adams, J., Chen, Z. Y., Welch, K. O., Tekin, M., Ouyang, X. M., Kristiansen, A., Pandya, A., Balkany, T., Arnos, K. S. & Nance, W. E., Dec 1 2001, In : Human Molecular Genetics. 10, 25, p. 2945-2951 7 p.

Research output: Contribution to journalArticle

Connexin 43
Cochlea
Deafness
Mutation
Connexins
18 Citations (Scopus)

W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness

Tekin, M., Arnos, K. S., Xia, X. J., Oelrich, M. K., Liu, X. Z., Nance, W. E. & Pandya, A., Apr 28 2001, In : Clinical Genetics. 59, 4, p. 269-273 5 p.

Research output: Contribution to journalArticle

Deafness
Mutation
Genes
Hearing Loss
France
2000
340 Citations (Scopus)

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

Verpy, E., Leibovici, M., Zwaenepoel, I., Liu, X. Z., Gal, A., Salem, N., Mansour, A., Blanchard, S., Kobayashi, I., Keats, B. J. B., Slim, R. & Petit, C., Sep 1 2000, In : Nature Genetics. 26, 1, p. 51-55 5 p.

Research output: Contribution to journalArticle

PDZ Domains
Inner Ear
Usher Syndromes
Genes
Minisatellite Repeats
235 Citations (Scopus)

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

Bitner-Glindzicz, M., Lindley, K. J., Rutland, P., Blaydon, D., Smith, V. V., Milla, P. J., Hussain, K., Furth-Lavi, J., Cosgrove, K. E., Shepherd, R. M., Barnes, P. D., O'Brien, R. E., Farndon, P. A., Sowden, J., Liu, X. Z., Scanlan, M. J., Malcolm, S., Dunne, M. J., Aynsley-Green, A. & Glaser, B., Sep 1 2000, In : Nature Genetics. 26, 1, p. 56-60 5 p.

Research output: Contribution to journalArticle

Recessive Genes
Gene Deletion
Hyperinsulinism
Deafness
Congenital Hyperinsulinism
155 Citations (Scopus)

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss

Liu, X. Z., Xia, X. J., Xu, L. R., Pandya, A., Liang, C. Y., Blanton, S. H., Brown, S. D. M., Steel, K. P. & Nance, W. E., Mar 23 2000, In : Human Molecular Genetics. 9, 1, p. 63-67 5 p.

Research output: Contribution to journalArticle

Hearing Loss
Mutation
Isoleucine
Gap Junctions
Deafness
53 Citations (Scopus)

Relation between choice of partner and high frequency of connexin-26 deafness

Nance, W. E., Liu, X. Z. & Pandya, A., Aug 5 2000, In : Lancet. 356, 9228, p. 500-501 2 p.

Research output: Contribution to journalArticle

Deafness
Marriage
Population
Genotype
Mutation

Sensorineural hearing impairment: non-syndromic, recessive DFNB2.

Liu, X. Z. & Brown, S. D., Oct 2 2000, In : Advances in Oto-Rhino-Laryngology. 56, p. 124-130 7 p.

Research output: Contribution to journalArticle

Recessive Genes
Dyneins
Sensorineural Hearing Loss
Chromosome Mapping
Myosins
1999
59 Citations (Scopus)

A mutation (2314delG) in the usher syndrome type IIA gene: High prevalence and phenotypic variation [4]

Liu, X. Z., Hope, C., Chuan Yu Liang, Y. L., Jiu Mu Zou, M. Z., Li Rong Xu, R. X., Cole, T., Mueller, R. F., Bundey, S., Nance, W., Steel, K. P. & Brown, S. D. M., Dec 1 1999, In : American Journal of Human Genetics. 64, 4, p. 1221-1225 5 p.

Research output: Contribution to journalArticle

Mutation
Genes
Type 2A Usher syndrome
10 Citations (Scopus)

Evaluation of the use of a questionnaire to detect hearing loss in babies in China

Newton, V. E., Liu, X. Z., Ke, X., Xu, L. & Bamford, J. M., May 5 1999, In : International Journal of Pediatric Otorhinolaryngology. 48, 2, p. 125-129 5 p.

Research output: Contribution to journalArticle

Hearing Loss
China
Otitis Media with Effusion
Hearing
Audiometry
1998
87 Citations (Scopus)

Mutations in the myosin VIAA gene cause a wide phenotypic spectrum, including atypical usher syndrome [5]

Liu, X. Z., Hope, C., Walsh, J., Newton, V., Xiao Mei Ke, M. K., Chuan Yu Liang, Y. L., Li Ron Xu, R. X., Jiu Mu Zhou, M. Z., Trump, D., Steel, K. P., Bundey, S. & Brown, S. D. M., Dec 1 1998, In : American Journal of Human Genetics. 63, 3, p. 909-912 4 p.

Research output: Contribution to journalArticle

Usher Syndromes
Retinitis Pigmentosa
Deafness
Pedigree
Myosins
1997
241 Citations (Scopus)

Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene.

Liu, X. Z., Walsh, J., Tamagawa, Y., Kitamura, K., Nishizawa, M., Steel, K. P. & Brown, S. D., Nov 1 1997, In : Nature Genetics. 17, 3, p. 268-269 2 p.

Research output: Contribution to journalArticle

Dominant Genes
Single-Stranded Conformational Polymorphism
Sequence Deletion
Deafness
Myosins
12 Citations (Scopus)

Distortion product emissions in normal-hearing and low-frequency hearing loss carriers of genes for Waardenburg's syndrome

Liu, X. Z., Harwell, E. & Newton, V. E., Jan 1 1997, In : Annals of Otology, Rhinology and Laryngology. 106, 3, p. 220-225 6 p.

Research output: Contribution to journalArticle

Waardenburg Syndrome
Hearing Loss
Hearing
Genes
Inner Ear
28 Citations (Scopus)

Identification of a new mutation of the myosin VII head region in usher syndrome type 1

Liu, X. Z., Newton, V. E., Steel, K. P. & Brown, S. D. M., Aug 19 1997, In : Human Mutation. 10, 2, p. 168-170 3 p.

Research output: Contribution to journalArticle

Diseases in Twins
Nucleic Acid Heteroduplexes
Usher Syndromes
Single-Stranded Conformational Polymorphism
Frameshift Mutation
339 Citations (Scopus)

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

Liu, X. Z., Walsh, J., Mburu, P., Kendrick-Jones, J., Cope, M. J. T. V., Steel, K. P. & Brown, S. D. M., Jun 19 1997, In : Nature Genetics. 16, 2, p. 188-190 3 p.

Research output: Contribution to journalArticle

Deafness
Myosins
Mutation
Genes
Hearing Loss
75 Citations (Scopus)

Myosin VIIA gene: Heterogeneity of the mutations responsible for Usher syndrome type IB

Lévy, G., Levi-Acobas, F., Blanchard, S., Gerber, S., Larget-Piet, D., Chenal, V., Liu, X. Z., Newton, V., Steel, K. P., Brown, S. D. M., Munnich, A., Kaplan, J., Petit, C. & Weil, D., Jan 1 1997, In : Human Molecular Genetics. 6, 1, p. 111-116 6 p.

Research output: Contribution to journalArticle

Usher Syndromes
Myosins
Mutation
Genes
Retinitis Pigmentosa
1995
10 Citations (Scopus)

Hearing loss and pigmentary disturbances in Waardenburg syndrome with reference to WS Type II

Liu, X. Z., Newton, V. & Read, A., Jan 1 1995, In : Journal of Laryngology and Otology. 109, 2, p. 96-100 5 p.

Research output: Contribution to journalArticle

Waardenburg Syndrome
Hearing Loss
Pigmentation Disorders
Hearing
Penetrance
165 Citations (Scopus)

The mutational spectrum in waardenburg syndrome

Tassabehji, M., Newton, V. E., Liu, X. Z., Brady, A., Donnai, D., Krajewska-Walasek, M., Murday, V., Norman, A., Obersztyn, E., Reardon, W., Rice, J. C., Trembath, R., Wieacker, P., Whiteford, M., Winter, R. & Read, A. P., Jan 1 1995, In : Human Molecular Genetics. 4, 11, p. 2131-2137 7 p.

Research output: Contribution to journalArticle

Waardenburg Syndrome
Mutation
Genes
Pathology
Amino acids
124 Citations (Scopus)

Waardenburg syndrome type II: Phenotypic findings and diagnostic criteria

Liu, X. Z., Newton, V. E. & Read, A. P., Feb 28 1995, In : American Journal of Medical Genetics. 55, 1, p. 95-100 6 p.

Research output: Contribution to journalArticle

Waardenburg Syndrome
Sensorineural Hearing Loss
Hearing Loss
Genes
Chromosomes
1994
152 Citations (Scopus)

A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1

Hughes, A. E., Newton, V. E., Liu, X. Z. & Read, A. P., Aug 1 1994, In : Nature Genetics. 7, 4, p. 509-512 4 p.

Research output: Contribution to journalArticle

Waardenburg Syndrome
Microphthalmos
Genetic Recombination
Chromosomes
Lod Score
10 Citations (Scopus)

Audiometric configuration in non-syndromic genetic hearing loss

Liu, X. Z., Xu, L. & Newton, V., Jan 1 1994, In : Journal of Audiological Medicine. 3, 2, p. 99-106 8 p.

Research output: Contribution to journalArticle

Hearing Loss
Deafness
Counseling
14 Citations (Scopus)

Epidemiological and genetic studies of congenital profound deafness in the general population of Sichuan, China

Liu, X. Z., Xu, L., Zhang, S. & Xu, Y., Nov 7 1994, In : American Journal of Medical Genetics. 53, 2, p. 192-195 4 p.

Research output: Contribution to journalArticle

Deafness
Epidemiologic Studies
China
Population
Birth Order
74 Citations (Scopus)

Nonsyndromic hearing loss: An analysis of audiograms

Liu, X. Z. & Xu, L., Jan 1 1994, In : Annals of Otology, Rhinology and Laryngology. 103, 6, p. 428-433 6 p.

Research output: Contribution to journalArticle

Hearing Loss
Nonsyndromic Deafness
Counseling
3 Citations (Scopus)

The association of sensorineural hearing loss and pigmentation abnormalities in Waardenburg Syndrome

Newton, V. E., Liu, X. Z. & Read, A., Jan 1 1994, In : Journal of Audiological Medicine. 3, 2, p. 69-77 9 p.

Research output: Contribution to journalArticle

Waardenburg Syndrome
Sensorineural Hearing Loss
Pigmentation
Bilateral Hearing Loss
Hearing Loss
1993
20 Citations (Scopus)

Prevalence and aetiology of profound deafness in the general population of Sichuan, China

Liu, X. Z., Xu, L., Zhang, S. & Xu, Y., Jan 1 1993, In : Journal of Laryngology and Otology. 107, 11, p. 990-993 4 p.

Research output: Contribution to journalArticle

Deafness
China
Population
Communicable Diseases
Asphyxia