Joy Bryant
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Development of a radiographic vertebral severity score for evaluation of disease progression in alkaptonuria Open
Alkaptonuria is associated with progressive spine disease beginning in young adulthood. Characteristic radiographic changes in the intervertebral discs are often the earliest detectable skeletal manifestations. We developed a radiographic …
View article: Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls
Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls Open
Severe insulin resistance and T2DM are the hallmarks of AS. However, patients with AS may present with multiple other endocrinopathies affecting growth and development.
Prospective Evaluation of Kidney Disease in Joubert Syndrome Open
Background and objectives Joubert syndrome is a genetically heterogeneous ciliopathy associated with >30 genes. The characteristics of kidney disease and genotype-phenotype correlations have not been evaluated in a large cohort at a single…
Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center Open
Background and Aims: Joubert Syndrome (JS) is a rare, inherited, ciliopathy defined by cerebellar and brainstem malformations and is variably associated with liver, kidney, and ocular dysfunction. This study characterizes the hepatic findi…
Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients Open
Alström syndrome (AS) is a rare autosomal recessive ciliopathy caused by mutations in the ALMS1 gene. Hallmark characteristics include childhood onset of severe retinal degeneration, sensorineural hearing loss, obesity, insulin‐resistant d…
<i>CELSR2</i>, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency Open
Joubert syndrome is a ciliopathy characterized by a specific constellation of central nervous system malformations that result in the pathognomonic “molar tooth sign” on imaging. More than 27 genes are associated with Joubert syndrome, but…
Respiratory manifestations in 38 patients with Alström syndrome Open
Summary Objectives: Alström syndrome (AS) is a rare, multi‐system condition characterized by retinal degeneration, sensorineural hearing loss, obesity, insulin‐resistant diabetes, hypertriglyceridemia, cardiomyopathy, hepatorenal disease, …
Cystic cerebellar dysplasia and biallelic <i>LAMA1</i> mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects Open
Background Laminins are heterotrimeric complexes, consisting of α, β and γ subunits that form a major component of basement membranes and extracellular matrix. Laminin complexes have different, but often overlapping, distributions and func…