منابع مشابه
Molecular diagnosis of inherited diseases.
The importance of the interaction between basic science and clinical practice has long been known but it has become even more evident in the past few decades with the impressive rate of development in the field of molecular genetics. This short article reviews molecular diagnosis of two different diseases for which scientific progress has immediately been translated into a dramatic improvement ...
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Adaptive optics (AO) ophthalmoscopy allows for non-invasive retinal phenotyping on a microscopic scale, thereby helping to improve our understanding of retinal diseases. An increasing number of natural history studies and ongoing/planned interventional clinical trials exploit AO ophthalmoscopy both for participant selection, stratification and monitoring treatment safety and efficacy. In this r...
متن کاملMolecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing
Purpose A majority of genes associated with inherited retinal diseases (IRDs) have been identified in patients of European origin. Indigenous African populations exhibit rich genomic diversity, and evaluation of reported genetic mutations has yielded low returns so far. Our goal was to perform whole-exome sequencing (WES) to examine variants in known IRD genes in underrepresented African cohort...
متن کاملPrenatal diagnosis for inherited skin diseases.
Significant advances in the prenatal diagnosis of hereditary skin disorders, including severe forms of epidermolysis bullosa (EB) and tyrosinase-negative oculocutaneous albinism (OCA1A), have been reviewed. Fetal skin biopsy during the second trimester of pregnancy has been utilized successfully for the prenatal diagnosis of EB and OCA1A. Recently, elucidation of the specific gene mutation in a...
متن کاملClinical Approaches of Retinal Diseases in Pregnancy
Pregnancy leads to significant changes in the body, which potentially affect the retina. Pregnancy can induce disease such as that seen in hypertensive retinopathy and choroidopathy. It can cause exudative retinal detachments in the HELLP syndrome (hemolysis, elevated liver enzymes, and low platelets), disseminated intravascular coagulation (DIC), and thrombotic thrombocytopenic purpura (TTP), ...
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ژورنال
عنوان ژورنال: Klinische Monatsblätter für Augenheilkunde
سال: 2021
ISSN: 0023-2165,1439-3999
DOI: 10.1055/a-1388-7236