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of 4
pro vyhledávání: '"Brianna Gross"'
Publikováno v:
Journal of Developmental & Behavioral Pediatrics. 44:e119-e125
Pediatric diagnoses of sex chromosome multisomies (SCMs) have increased as genetic testing has expanded. However, depending on SCM presentation, there may be significant delays between symptom recognition and diagnosis. We conducted a survey of paren
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a9f2958fd5daa0402aa0258bdd92987
https://doi.org/10.1097/dbp.0000000000001153
https://doi.org/10.1097/dbp.0000000000001153
Publikováno v:
Journal of Genetic Counseling. 30:1407-1417
Sex chromosome aneuploidies (SCAs) occur in 1 in every 400 births. SCAs are highly variable and have uncertain prognoses, complicating the delivery of prenatal cell-free DNA (cfDNA) results or diagnosis following amniocentesis or chorionic villus sam
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48ffb3eb73b7ce3a18a7d363672d92fb
https://doi.org/10.1002/jgc4.1407
https://doi.org/10.1002/jgc4.1407
Autor:
Brianna Gross, Rebecca L. Linn, Adam I. Rubin, Susan E. Matesanz, Elizabeth Kichula, Sabrina W. Yum, Candace Curry
Publikováno v:
Journal of Child Neurology. 35:717-723
Spinal muscular atrophy type 0 is the most severe phenotype of the disease, with patients presenting with contractures, weakness, and respiratory failure at birth, and is typically fatal within weeks. We describe the case of a patient with spinal mus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::401b7dfedd70f190b700a72f2d06d983
https://doi.org/10.1177/0883073820928784
https://doi.org/10.1177/0883073820928784
Publikováno v:
Clinics in laboratory medicine. 40(3)
Diagnostic genetic testing for spinal muscular atrophy is key in establishing early diagnosis for affected individuals. Prenatal carrier testing of parents with subsequent testing of the fetus for homozygous SMN1 gene deletion in those at risk of thi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2460922b45d9dbdb5d3e569f6b80302c
https://pubmed.ncbi.nlm.nih.gov/32718505
https://pubmed.ncbi.nlm.nih.gov/32718505