Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Colleen Keen"'
Autor:
Adrianna K. San Roman, Helen Skaletsky, Alexander K. Godfrey, Neha V. Bokil, Levi Teitz, Isani Singh, Laura V. Blanton, Daniel W. Bellott, Tatyana Pyntikova, Julian Lange, Natalia Koutseva, Jennifer F. Hughes, Laura Brown, Sidaly Phou, Ashley Buscetta, Paul Kruszka, Nicole Banks, Amalia Dutra, Evgenia Pak, Patricia C. Lasutschinkow, Colleen Keen, Shanlee M. Davis, Angela E. Lin, Nicole R. Tartaglia, Carole Samango-Sprouse, Maximilian Muenke, David C. Page
Publikováno v:
Cell Genomics, Vol 4, Iss 1, Pp 100462- (2024)
Summary: Somatic cells of human males and females have 45 chromosomes in common, including the “active” X chromosome. In males the 46th chromosome is a Y; in females it is an “inactive” X (Xi). Through linear modeling of autosomal gene expres
Externí odkaz:
https://doaj.org/article/f7bcee4c14104a018d0e1ee125035ddd
Autor:
Adrianna K. San Roman, Alexander K. Godfrey, Helen Skaletsky, Daniel W. Bellott, Abigail F. Groff, Hannah L. Harris, Laura V. Blanton, Jennifer F. Hughes, Laura Brown, Sidaly Phou, Ashley Buscetta, Paul Kruszka, Nicole Banks, Amalia Dutra, Evgenia Pak, Patricia C. Lasutschinkow, Colleen Keen, Shanlee M. Davis, Nicole R. Tartaglia, Carole Samango-Sprouse, Maximilian Muenke, David C. Page
Publikováno v:
Cell Genomics, Vol 3, Iss 2, Pp 100259- (2023)
Summary: The “inactive” X chromosome (Xi) has been assumed to have little impact, in trans, on the “active” X (Xa). To test this, we quantified Xi and Xa gene expression in individuals with one Xa and zero to three Xis. Our linear modeling re
Externí odkaz:
https://doaj.org/article/a25725f53e0c4b88aad1b61692c510c9
Autor:
Emily G. Allen, Martha A. Waters, Carissa M. Rocheleau, Jessica Ezzell Hunter, Colleen Keen, Stephanie L. Sherman
Publikováno v:
International Journal of Hygiene and Environmental Health. 223:207-213
Among live births, Down syndrome (DS) due to trisomy 21 is the most commonly occurring autosomal trisomy, typically resulting from meiotic nondisjunction. Currently, advanced maternal age and altered recombination patterns are the only well-known ris
Publikováno v:
Prenatal Diagnosis. 37:497-501
Objective The purpose of this paper is to provide an overview of the 47, XXY syndrome, which is the most commonly occurring X and Y chromosomal variation. This paper seeks to review what is currently known of noninvasive prenatal testing (NIPT) and 4
Publikováno v:
American Journal of Medical Genetics Part A. 173:762-765
Koolen-de Vries Syndrome (KdVS), also referred to as 17q21.31 microdeletion syndrome, is caused by haploinsufficiency of the KANSL1 gene. This genetic disorder is associated with a clinical phenotype including facial dysmorphism, developmental delay,
Publikováno v:
Prenatal diagnosis. 37(5)
The purpose of this paper is to provide an overview of the 47, XXY syndrome, which is the most commonly occurring X and Y chromosomal variation. This paper seeks to review what is currently known of noninvasive prenatal testing (NIPT) and 47, XXY and
Autor:
Teresa Sadeghin, Colleen Keen, Carole A. Samango-Sprouse, Francie L. Mitchell, Andrea L. Gropman
Publikováno v:
American journal of medical genetics. Part A. (10)
Fourty eight, XXXX is a rare chromosomal aneuploidy associated with neurocognitive deficits, speech and language disorders and executive dysfunction but the scarcity and variability of reported cases limit our understanding of the 48, XXXX phenotype.