Disease: Tietz syndrome
- <em>MITF</em> p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome
- A cascade of genes related to Waardenburg syndrome
- A genome-wide association study in autoimmune neurological syndromes with anti-GAD65 autoantibodies
- A genome-wide association study reveals a locus for bilateral iridal hypopigmentation in Holstein Friesian cattle
- A MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattle
- A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes
- A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance
- Alterations in the organization of the isocortical layer I in trisomy 22
- Are dental anomalies associated with Tietz syndrome?
- Benzodiazepine withdrawal-induced glutamatergic plasticity involves up-regulation of GluR1-containing alpha-amino-3-hydroxy-5-methylisoxazole-4-propionic acid receptors in Hippocampal CA1 neurons
- Benzodiazepine-induced hippocampal CA1 neuron alpha-amino-3-hydroxy-5-methylisoxasole-4-propionic acid (AMPA) receptor plasticity linked to severity of withdrawal anxiety: differential role of voltage-gated calcium channels and N-methyl-D-aspartic acid re
- Calcium/calmodulin-dependent protein kinase II mediates hippocampal glutamatergic plasticity during benzodiazepine withdrawal
- Chronic benzodiazepine administration potentiates high voltage-activated calcium currents in hippocampal CA1 neurons
- Clinical, serological and genetic predictors of response to immunotherapy in anti-IgLON5 disease
- Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism
- Cryptosporidium parvum is cytopathic for cultured human biliary epithelia via an apoptotic mechanism
- Diagnosis and treatment of Tietze's syndrome
- Down-regulation of synaptic GluN2B subunit-containing N-methyl-D-aspartate receptors: a physiological brake on CA1 neuron α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid hyperexcitability during benzodiazepine withdrawal
- Effect of the mutant microphthalmia-associated transcription factor found in Tietz syndrome on the in vitro development of mast cells
- Etiology of Perthes' syndrome
- Evidence for persistence of the SHIV reservoir early after MHC haploidentical hematopoietic stem cell transplantation
- Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism
- Five-Year Prognosis After TIA or Minor Ischemic Stroke in Asian and Non-Asian Populations
- Five-Year Risk of Stroke after TIA or Minor Ischemic Stroke
- Fungal nail infections--an update: Part 1--Prevalence, epidemiology, predisposing conditions, and differential diagnosis
- Genetic variants of adiponectin receptor 2 are associated with increased adiponectin levels and decreased triglyceride/VLDL levels in patients with metabolic syndrome
- Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus
- 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
- Hereditary pigmentary disorders
- Immunogold electron microscopic evidence of differential regulation of GluN1, GluN2A, and GluN2B, NMDA-type glutamate receptor subunits in rat hippocampal CA1 synapses during benzodiazepine withdrawal
- Increased AMPA receptor GluR1 subunit incorporation in rat hippocampal CA1 synapses during benzodiazepine withdrawal
- MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function
- MITF: a stream flowing for pigment cells
- 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
- Octenidine hydrochloride for the care of central venous catheter insertion sites in severely immunocompromised patients
- One-Year Risk of Stroke after Transient Ischemic Attack or Minor Stroke
- Outcome after complex trauma of the foot
- Pancreatitis with arthropathy and subcutaneous fat necrosis. Evidence for the pathogenicity of lipolytic enzymes
- Partial dwarfism in Klippel-Trenaunay-Parkes-Weber syndrome
- Phenotypic and genetic analysis of a patient presented with Tietz/Waardenburg type II a syndrome
- Phosphatidylinositol 3-kinase and frabin mediate Cryptosporidium parvum cellular invasion via activation of Cdc42
- Pleiotropic effects of coat colour-associated mutations in humans, mice and other mammals
- Progressive Cone-Rod Dystrophy and RPE Dysfunction in <em>Mitf<sup>mi/+</sup></em> Mice
- Regulation of Ca²⁺/calmodulin-dependent protein kinase II signaling within hippocampal glutamatergic postsynapses during flurazepam withdrawal
- Regulation of melanogenesis: the role of cAMP and MITF
- Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics
- Stage CDC C3 HIV infection; V.a. acute serotoninergic syndrome
- The acute effect of quazepam on the sleep of chronic insomniacs. A dose-response study
- The addicted patient in anaesthesia - benzodiazepine dependence
- Tietz syndrome
- Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF
- Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal
- Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations
- Tietz's syndrome
- Tietz's syndrome
- Tietze's syndrome--a problem in differential diagnosis
- Transient plasticity of hippocampal CA1 neuron glutamate receptors contributes to benzodiazepine withdrawal-anxiety
- Use of checklists improves the quality and safety of prehospital emergency care
- White coat color of a Black Angus calf attributed to an occurrence of the delR217 variant of MITF