Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Human Genetics • Review"'
Publikováno v:
Journal of Applied Genetics
Direct-to-consumer tests opened the opportunity of genetic testing without medical supervision, e.g., without medical referral and medical interpretation of the results. Thus, these approaches allow for free access to information concerning individua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a65602f8699b486f3d27166a476b37e1
https://doi.org/10.1007/s13353-021-00670-z
https://doi.org/10.1007/s13353-021-00670-z
Autor:
Robert P. Erickson
Publikováno v:
Journal of Applied Genetics
The peopling of the Americas by Native Americans occurred in 4 waves of which the last was Nadene language speakers of whom Athabaskans are the largest group. As the Europeans were entering the Southwestern states of the USA, Athabaskan hunting-gathe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d5b990438dcaeb2ae7ad50e059fa507
https://doi.org/10.1007/s13353-021-00630-7
https://doi.org/10.1007/s13353-021-00630-7
Autor:
Marek Switonski
Publikováno v:
Journal of Applied Genetics
Rapid progress in knowledge of the organization of the dog genome has facilitated the identification of the mutations responsible for numerous monogenic diseases, which usually present a breed-specific distribution. The majority of these diseases hav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd70b00e1e34e5a5aacab633d0526809
http://europepmc.org/articles/PMC7148265
http://europepmc.org/articles/PMC7148265
Autor:
Krzysztof Szyfter, Michał Witt
Publikováno v:
Journal of Applied Genetics
There is an agreement about joint genetic and environmental background of musical reception and performance. Musical abilities tend to cluster in families. The studies done on a random population, twins and families of gifted musicians provided a str
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1e0a3377c5151eaf97cd777a6a54350
https://pubmed.ncbi.nlm.nih.gov/32533421
https://pubmed.ncbi.nlm.nih.gov/32533421
Autor:
Gos Monika, Abramowicz Anna
Publikováno v:
Journal of Applied Genetics
Precise pre-mRNA splicing, essential for appropriate protein translation, depends on the presence of consensus “cis” sequences that define exon-intron boundaries and regulatory sequences recognized by splicing machinery. Point mutations at these
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdc1c3257c5e0ffe4e4d66fd36981fc8
https://doi.org/10.1007/s13353-018-0444-7
https://doi.org/10.1007/s13353-018-0444-7
Autor:
Anna Wawrocka, Maciej R Krawczyński
Publikováno v:
Journal of Applied Genetics
Aniridia is a rare, panocular disorder characterized by a variable degree of hypoplasia or the absence of iris tissue associated with additional ocular abnormalities. It is inherited in an autosomal dominant manner, with high penetrance and variable
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::677d3a9aa2306c3f336ead75267a64b4
https://doi.org/10.1007/s13353-017-0426-1
https://doi.org/10.1007/s13353-017-0426-1
Publikováno v:
Journal of Applied Genetics
Mitochondrial diseases are defined by a respiratory chain dysfunction and in most of the cases manifest as multisystem disorders with predominant expression in muscles and nerves and may be caused by mutations in mitochondrial (mtDNA) or nuclear (nDN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcf097c6d9ee21dcd8d3b0bfe54044d4
https://doi.org/10.1007/s13353-017-0424-3
https://doi.org/10.1007/s13353-017-0424-3
Autor:
Beata Nowakowska
Publikováno v:
Journal of Applied Genetics
Molecular methods, by which copy number variants (CNVs) detection is available, have been gradually introduced into routine diagnostics over the last 15 years. Despite this, some CNVs continue to be a huge challenge when it comes to clinical interpre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54d4e164fdcd25ef8c56a2adabf04f26
http://europepmc.org/articles/PMC5655614
http://europepmc.org/articles/PMC5655614
Autor:
Ewa Ziętkiewicz, Patrycja Daca-Roszak
Publikováno v:
Journal of Applied Genetics
This review presents the state-of-the-art in the forensic application of genetic methods driven by the research in population transcriptomics. In the first part of the review, the constraints of using classical genomic markers are shortly reviewed. I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7335e05c04733a41cbeb4eecd31c2f7
https://pubmed.ncbi.nlm.nih.gov/31401728
https://pubmed.ncbi.nlm.nih.gov/31401728
Publikováno v:
Journal of Applied Genetics
Recent advances in understanding the molecular events underlying hypohidrotic ectodermal dysplasia (HED) caused by mutations of the genes encoding proteins of the tumor necrosis factor α (TNFα)-related signaling pathway have been presented. These p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b91216cf2b24bf79cd9ffa3af66635fa
https://doi.org/10.1007/s13353-015-0307-4
https://doi.org/10.1007/s13353-015-0307-4