• <em>MITF</em> p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome
• A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation
• Anaesthesia Management in a Patient with Waardenburg Syndrome and Review of the Literature
• Are dental anomalies associated with Tietz syndrome?
• Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness
• Cochlear implantation for symptomatic hereditary deafness
• Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism
• Controlling for cohort effects in accelerated longitudinal designs using continuous- and discrete-time dynamic models
• Genetic insights into Tietz albinism-deafness syndrome: A new dominant-negative mutation in MITF
• Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I
• Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome
• Hereditary Hearing Impairment with Cutaneous Abnormalities
• Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes
• Identification of a novel mutation of <em>SOX10</em> gene and analysis of the phenotype
• MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function
• Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome)
• Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes
• Pleiotropic effects of coat colour-associated mutations in humans, mice and other mammals
• The outcome of cochlear implantation among children with genetic syndromes
• Toward expression mapping of albinism-deafness syndrome (ADFN) locus on chromosome Xq26
• Transcription map of Xq27: candidates for several X-linked diseases
• Waardenburg Syndrome type 1: A case report
• X-linked albinism-deafness syndrome and Waardenburg syndrome type II: a hypothesis