Disease: Deafness progressive cataract autosomal dominant
- <em>WFS1</em> Spectrum Disorder
- A De Novo <em>POLD1</em> Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome
- A De Novo POLD1 Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome
- A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred
- A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect
- A novel de novo MYH9 mutation in MYH9-related disease: A case report and review of literature
- A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report
- A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait
- Alport Syndrome
- Alteration of liver enzymes is a feature of the MYH9-related disease syndrome
- Alzheimer's and Danish dementia peptides induce cataract and perturb retinal architecture in rats
- Amyloidotic polyneuropathy in a Jewish family. Evidence for the genetic heterogeneity of the lower limb familial amyloidotic neuropathies
- Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms
- CKD in MYH9-related disorders
- Clinical and Molecular genetics of Stickler syndrome
- Clinical presentation of rapidly progressive familial Danish dementia
- Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene
- Life without double-headed non-muscle myosin II motor proteins
- Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified
- MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene
- MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype
- MYH9-related disease mutations cause abnormal red blood cell morphology through increased myosin-actin binding at the membrane
- MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations
- MYH9-related disease: it does exist, may be more frequent than you think and requires specific therapy
- Myosin heavy chain-9-related disorders (MYH9-RD): a case report
- Neurofibromatosis type 2 and auditory brainstem implantation
- Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease
- Renal diseases related to MYH9 disorders
- Rupture of the anterior lens capsule in Alport syndrome