Search results for "Connective tissue disorders"

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Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hyper…

2023

Deleterious variants in collagen genes are the most common cause of hereditary connective tissue disorders (HCTD). Adaptations of the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) criteria are still lacking. A multidisciplinary team was set up for developing specifications of the ACMG/AMP criteria for COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL11A1, COL11A2 and COL12A1, associated with various forms of HCTD featuring joint hypermobility, which is becoming one of the most common reasons of referral for molecular testing in this field. Such specifications were validated against 209 variants, and resulted effective for classifying as p…

ACMG/AMP criteria variants in collagen genes joint hypermobilityGeneticsACMG/AMP criteriacollagen geneshereditary connective tissue disorders (HCTD)Settore MED/03 - GENETICA MEDICAhereditary connective tissue disorders (HCTD) ACMG/AMP criteria collagen genesGenetics (clinical)Human Genetics
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Pulmonary functional and radiological correlations of nutritional status and physical activity in systemic sclerosis

2011

Purpose Methods and Materials Results Conclusion References Personal Information

CT-High ResolutionConnective tissue disordersPulmonary Function Radiology Nutritional status Physical Activity Systemic SclerosisSettore MED/10 - Malattie Dell'Apparato RespiratorioRespiratory system
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