Výsledky vyhledávání - "April L. Hall"

Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism

Autor: Holli M. Drendel, April L. Hall, Jennifer Verbrugge, Katherine L. Schumacher, Mary Pell Abernathy, David D. Weaver, Christian Litton, Christopher B. Griffith, Angela Reese, Gail H. Vance

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 15(9)

We report on a case in which cell-free fetal DNA was positive for trisomy 13 most likely due to confined placental mosaicism. Cell-free fetal DNA testing analyzes DNA derived from placental trophoblast cells and can lead to incorrect results that are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f47f94a76c13527b4311968c652bfce
https://pubmed.ncbi.nlm.nih.gov/23492874

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High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy

Autor: Chad A. Shaw, Arthur L. Beaudet, Larissa R. Stewart, Sung-Hae L. Kang, April L Hall

Publikováno v: BMC Medical Genetics
BMC Medical Genetics, Vol 12, Iss 1, p 154 (2011)

Background Many copy number variants (CNVs) are documented to be associated with neuropsychiatric disorders, including intellectual disability, autism, epilepsy, schizophrenia, and bipolar disorder. Chromosomal deletions of 1q21.1, 3q29, 15q13.3, 22q

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::625ea2578d681cdea3fe9b4e3b2f7147
https://doi.org/10.1186/1471-2350-12-154

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