Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum
S Seixas, PI Marques - The application of clinical genetics, 2021 - Taylor & Francis
Abstract Alpha-1-Antitrypsin deficiency (AATD), caused by SERPINA1 mutations, is one of
the most prevalent Mendelian disorders among individuals of European descend. However …
the most prevalent Mendelian disorders among individuals of European descend. However …
Genetic admixture in Brazil
We review studies from our laboratories using different molecular tools to characterize the
Amerindian, European and African ancestry of Brazilians. Initially we used uniparental DNA …
Amerindian, European and African ancestry of Brazilians. Initially we used uniparental DNA …
The Brazilian longitudinal study of aging (ELSI-Brazil): objectives and design
MF Lima-Costa, FB de Andrade… - American journal of …, 2018 - academic.oup.com
Brazil is experiencing among the world's fastest demographic aging worldwide. This
demographic transition is occurring in a context of few resources and great social …
demographic transition is occurring in a context of few resources and great social …
Exomic variants of an elderly cohort of Brazilians in the ABraOM database
MS Naslavsky, GL Yamamoto, TF de Almeida… - Human …, 2017 - Wiley Online Library
Brazilians are highly admixed with ancestry from Europe, Africa, America, and Asia and yet
still underrepresented in genomic databanks. We hereby present a collection of exomic …
still underrepresented in genomic databanks. We hereby present a collection of exomic …
Genomic insights into the ancestry and demographic history of South America
South America has a complex demographic history shaped by multiple migration and
admixture events in pre-and post-colonial times. Settled over 14,000 years ago by Native …
admixture events in pre-and post-colonial times. Settled over 14,000 years ago by Native …
Distance from sub-Saharan Africa predicts mutational load in diverse human genomes
The Out-of-Africa (OOA) dispersal∼ 50,000 y ago is characterized by a series of founder
events as modern humans expanded into multiple continents. Population genetics theory …
events as modern humans expanded into multiple continents. Population genetics theory …
Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil
As whole-genome sequencing (WGS) becomes the gold standard tool for studying
population genomics and medical applications, data on diverse non-European and admixed …
population genomics and medical applications, data on diverse non-European and admixed …
Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty
A Dauber, M Cunha-Silva, DB Macedo… - The Journal of …, 2017 - academic.oup.com
Context: Central precocious puberty (CPP) results from premature activation of the
hypothalamic–pituitary–gonadal axis. Few genetic causes of CPP have been identified, with …
hypothalamic–pituitary–gonadal axis. Few genetic causes of CPP have been identified, with …
[HTML][HTML] Latin Americans show wide-spread Converso ancestry and imprint of local Native ancestry on physical appearance
JC Chacón-Duque, K Adhikari… - Nature …, 2018 - nature.com
Historical records and genetic analyses indicate that Latin Americans trace their ancestry
mainly to the intermixing (admixture) of Native Americans, Europeans and Sub-Saharan …
mainly to the intermixing (admixture) of Native Americans, Europeans and Sub-Saharan …
A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome
RA Mathias, MA Taub, CR Gignoux, W Fu… - Nature …, 2016 - nature.com
Abstract The African Diaspora in the Western Hemisphere represents one of the largest
forced migrations in history and had a profound impact on genetic diversity in modern …
forced migrations in history and had a profound impact on genetic diversity in modern …