Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Uniparental Heterodisomy"'
Publikováno v:
Journal of Genetic Medicine. 17:83-88
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::41f002a63f46694223ac6c861debe1ef
https://doi.org/10.5734/jgm.2020.17.2.83
https://doi.org/10.5734/jgm.2020.17.2.83
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Background The condition of uniparental disomy (UPD) occurs when an individual inherits two copies of a chromosome, or part of a chromosome, from one parent. Most cases of uniparental heterodisomy (UPhD) do not cause diseases, whereas cases of unipar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c8e2eeed2dc8a1f023b6a4977c7a267
http://europepmc.org/articles/PMC8580083
http://europepmc.org/articles/PMC8580083
Autor:
Joanna Liu, Mirandy Teguh, Harry Gao, Samuel P. Strom, Merlin G. Butler, Hai-Yun Yen, William A Scaringe, Waheeda A. Hossain, Mickey Li, Melina Grigorian, Joseph Fierro
Publikováno v:
Frontiers in Genetics
Frontiers in Genetics, Vol 12 (2021)
Frontiers in Genetics, Vol 12 (2021)
Establishing or ruling out a molecular diagnosis of Prader–Willi or Angelman syndrome (PWS/AS) presents unique challenges due to the variety of different genetic alterations that can lead to these conditions. Point mutations, copy number changes, u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c3064770a28cff693773b3efb890f47
https://pubmed.ncbi.nlm.nih.gov/34046054
https://pubmed.ncbi.nlm.nih.gov/34046054
Publikováno v:
Cytogenetic and Genome Research. 152:1-8
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurogenetic disorders caused by loss of function of the imprinted genes at 15q11q13. A 5-7 Mb paternal/maternal deletion of chromosomal region 15q11.2q13 is the major genetic cause of PWS/AS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::424647fda8d5423d524427fad02a6dbe
https://doi.org/10.1159/000477520
https://doi.org/10.1159/000477520
Publikováno v:
Cytogenetic and genome research. 154(3)
Patients with autosomal recessive (AR) disorders are usually born to parents both of whom are heterozygous carriers of the disease. However, in some instances only one of the parents is a carrier and a mutation is segregated to the patient through un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4c9aac12499dc6fc144387d2c4518f5
https://pubmed.ncbi.nlm.nih.gov/29656286
https://pubmed.ncbi.nlm.nih.gov/29656286
Autor:
Darren K. Griffin, Rebecca L. Gould
Publikováno v:
Medical Research Archives. 5
The first application of preimplantation genetic diagnosis (PGD) recently celebrated its 25th birthday. Aside from the very early days when chromosomal diagnoses were used (by sexing) for the selective implantation of embryos unaffected by sex linked
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b678a27734e0c116ec34196a5183967d
https://doi.org/10.18103/mra.v5i6.1256
https://doi.org/10.18103/mra.v5i6.1256
Publikováno v:
OnLine Journal of Biological Sciences. 14:218-229
Prader-Willi and Angelman syndromes are clinically distinct neurodevelopmental genetic disorders that map to 15q11.2-q13 locus. The common phenotypes are attributable to loss of expression of parentally specific imprinted genes inside this region, wh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c57dba318438386ad3ae90499d4926f4
https://doi.org/10.3844/ojbsci.2014.218.229
https://doi.org/10.3844/ojbsci.2014.218.229
Publikováno v:
Blood Cells, Molecules, and Diseases. 49:114-117
Recessive congenital methemoglobinemia (RCM) is a very rare disorder caused by NADH-cytochrome b5 reductase (cb5r) deficiency. Two distinct clinical forms, types I and II, caused by cb5r deficiency have been recognized. In type I, the enzyme deficien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::966fa38872fa63402739b7859c2a4d32
https://doi.org/10.1016/j.bcmd.2012.05.005
https://doi.org/10.1016/j.bcmd.2012.05.005
Autor:
T. Eggermann, D. Kotzot
Publikováno v:
Medizinische Genetik. 22:439-451
Zusammenfassung Der Begriff uniparentale Disomie (UPD) beschreibt eine Chromosomenaberration, bei der beide Homologen/beide Kopien eines Chromosomenabschnitts (Heterodisomie) bzw. 2 Kopien eines Homologen/eines Chromosomenabschnitts (Isodisomie) von
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ddd7847562784effbf302ea6e08bf822
https://doi.org/10.1007/s11825-010-0242-z
https://doi.org/10.1007/s11825-010-0242-z
Publikováno v:
American Journal of Medical Genetics Part A. :1818-1821
We describe a chromosome 6 uniparental disomy (UPD6) in a boy, discovered during a screening for the genetic cause of cleft lip and palate. In the medical literature, almost all documented cases of UPD6 are paternal in origin, and only four were mate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed34faa879663dbcf938f65e92cb919d
https://doi.org/10.1002/ajmg.a.33526
https://doi.org/10.1002/ajmg.a.33526