Zobrazeno 1 - 10
of 1 401
pro vyhledávání: '"Chromosome 20"'
Autor:
Erica Soster, Tamara Mossfield, Melody Menezes, Gloudi Agenbag, Marie-Line Dubois, Jean Gekas, Tristan Hardy, Kelly Loggenberg, on behalf of the Global Expanded NIPT Consortium
Publikováno v:
Molecular Cytogenetics, Vol 17, Iss 1, Pp 1-7 (2024)
Abstract Trisomy 20 has been shown to be one of the most frequent rare autosomal trisomies in patients that undergo genome-wide noninvasive prenatal testing. Here, we describe the clinical outcomes of cases that screened positive for trisomy 20 follo
Externí odkaz:
https://doaj.org/article/634db5f3cfe74ed4a291f924099049a6
Publikováno v:
Srpski Arhiv za Celokupno Lekarstvo, Vol 152, Iss 3-4, Pp 205-208 (2024)
Introduction. Mosaic monosomy 20 is a rare chromosomal aberration, without characteristic clinical features. We present a case of a fetus with monosomy 20 mosaicism revealed after prenatal ultrasound detection of anhydramnios and multiple anomalies.
Externí odkaz:
https://doaj.org/article/7d65b312629b44e381247c627da7308a
Publikováno v:
Frontiers in Plant Science, Vol 14 (2023)
Soybean meal is a major component of livestock feed due to its high content and quality of protein. Understanding the genetic control of protein is essential to develop new cultivars with improved meal protein. Previously, a genomic region on chromos
Externí odkaz:
https://doaj.org/article/003305b87f3c45fdb2b7435b49f7524c
Publikováno v:
Vojnosanitetski Pregled, Vol 79, Iss 2, Pp 196-200 (2022)
Introduction. Ring chromosome 20 [r(20)] syndrome is a rare genetic abnormality where two arms of the 20th chromosome fuse forming a ring chromosome, resulting in intractable epilepsy and wide range of behavioral problems and cognitive deficits. Case
Externí odkaz:
https://doaj.org/article/fe7ac8d9c6a04735b2e939635c61021a
Akademický článek
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Autor:
Marguerite Hureaux, Sandra Chantot-Bastaraud, Kévin Cassinari, Edouard Martinez Casado, Ariane Cuny, Thierry Frébourg, Rosa Vargas-Poussou, Anne-Claire Bréhin
Publikováno v:
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-6 (2021)
Abstract Background Infantile hypercalcemia is an autosomal recessive disorder caused either by mutations in the CYP24A1 gene (20q13.2) or in the SLC34A1 gene (5q35.3). This disease is characterized by hypercalcemia, hypercalciuria and nephrocalcinos
Externí odkaz:
https://doaj.org/article/01ccaa0afe074cfb9d51e0a01c8dc7b5
Publikováno v:
Epilepsia Open, Vol 5, Iss 2, Pp 295-300 (2020)
Abstract Ring chromosome 20 syndrome (r(20)) is an ultra‐rare disease characterized by drug‐refractory epilepsy, cognitive impairment, and behavioral problems. Nonpharmacological treatments alongside antiepileptic drugs early after diagnosis may
Externí odkaz:
https://doaj.org/article/c9e866019d3a4b18b77ea3074a876c7d
Autor:
Angela Peron, Ilaria Catusi, Maria Paola Recalcati, Luciano Calzari, Lidia Larizza, Aglaia Vignoli, Maria Paola Canevini
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Ring chromosome 20 [r(20)] syndrome is a rare condition characterized by a non-supernumerary ring chromosome 20 replacing a normal chromosome 20. It is commonly seen in a mosaic state and is diagnosed by means of karyotyping. r(20) syndrome is charac
Externí odkaz:
https://doaj.org/article/f3c3bc7fb17743c0856e38398ae49264
Autor:
Stoffel, Markus, Le Beau, Michelle M., Espinosa, Rafael, Bohlander, Stefan F., Le Paslier, Denis, Cohen, Daniel, Xiang, Kun-San, Cox, Nancy J., Fajans, Stefan S., Bell, Graeme I.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1996 Apr . 93(9), 3937-3941.
Externí odkaz:
https://www.jstor.org/stable/39171
Publikováno v:
Vojnosanitetski pregled. 79:196-200
Introduction. Ring chromosome 20 [r(20)] syndrome is a rare genetic abnormality where two arms of the 20th chromosome fuse forming a ring chromosome, resulting in intractable epilepsy and wide range of behavioral problems and cognitive deficits. Case
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::366cae38d6e9c445940cc8f06076c9df
https://doi.org/10.2298/vsp200601096b
https://doi.org/10.2298/vsp200601096b