Results 1 to 10 of about 83,295 (192)

Developmental Delay and Rehabilitation in an Infant with Partial Trisomy 1q32.1 to 1q44: A Case Report [PDF]

open access: yesNeonatal Medicine, 2022
Partial trisomy 1q is a rare chromosomal disorder characterized by ventriculomegaly with craniofacial, renal, cardiac, and finger and toe anomalies. Most reported cases of partial trisomy1q have involved stillborn or premature deaths due to cardiac or ...
Woo Kyung Kim   +6 more
doaj   +1 more source

No evidence for a second evolutionary stratum during the early evolution of mammalian sex chromosomes. [PDF]

open access: yesPLoS ONE, 2012
Mammalian sex chromosomes originated from a pair of autosomes, and homologous genes on the sex chromosomes (gametologs) differentiated through recombination arrest between the chromosomes.
Yukako Katsura, Yoko Satta
doaj   +1 more source

A supernumerary synthetic chromosome in Komagataella phaffii as a repository for extraneous genetic material

open access: yesMicrobial Cell Factories, 2023
Background Komagataella phaffii (Pichia pastoris) is a methylotrophic commercially important non-conventional species of yeast that grows in a fermentor to exceptionally high densities on simple media and secretes recombinant proteins efficiently ...
Dariusz Abramczyk   +7 more
doaj   +1 more source

Neuroligins and Neurodevelopmental Disorders: X-Linked Genetics

open access: yesFrontiers in Synaptic Neuroscience, 2020
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that results in social-communication impairments, as well as restricted and repetitive behaviors. Moreover, ASD is more prevalent in males, with a male to female ratio of 4 to 1.
Thien A. Nguyen   +3 more
doaj   +1 more source

Chromosome-specific alpha satellite DNA from human chromosome 1: Hierarchical structure and genomic organization of a polymorphic domain spanning several hundred kilobase pairs of centromeric DNA

open access: yesGenomics, 1987
The human alpha satellite repetitive DNA family is organized as distinct chromosome-specific subsets localized to the centromeric region of each chromosome. Here, we report he isolation and characterization of cloned repeat units which define a hierarchical subset of alpha satellite on human chromosome 1. This subset is characterized by a 1.9-kb higher-
J S, Waye   +6 more
openaire   +2 more sources

Karyotypic features including organizations of the 5S, 45S rDNA loci and telomeres of Scadoxus multiflorus (Amaryllidaceae)

open access: yesComparative Cytogenetics, 2016
Scadoxus multiflorus Martyn, 1795 is an ornamental plant with brilliantly colored flowers. Even though its chromosomes are rather large, there is no karyotype description reported so far.
Pansa Monkheang   +3 more
doaj   +3 more sources

Deep ancestry of mammalian X chromosome revealed by comparison with the basal tetrapod Xenopus tropicalis

open access: yesBMC Genomics, 2012
Background The X and Y sex chromosomes are conspicuous features of placental mammal genomes. Mammalian sex chromosomes arose from an ordinary pair of autosomes after the proto-Y acquired a male-determining gene and degenerated due to suppression of X-Y ...
Mácha Jaroslav   +6 more
doaj   +1 more source

Data supporting the design and evaluation of a universal primer pair for pseudogene-free amplification of HPRT1 in real-time PCR

open access: yesData in Brief, 2015
Hypoxanthine-guanine phosphoribosyltransferase 1 (HPRT1) is a common housekeeping gene for sample normalization in the quantitative reverse transcriptase polymerase chain (qRT-PCR).
Reza Valadan   +6 more
doaj   +1 more source

Frequent gene conversion events between the X and Y homologous chromosomal regions in primates

open access: yesBMC Evolutionary Biology, 2010
Background Mammalian sex-chromosomes originated from a pair of autosomes. A step-wise cessation of recombination is necessary for the proper maintenance of sex-determination and, consequently, generates a four strata structure on the X chromosome.
Hirai Hirohisa   +4 more
doaj   +1 more source

A comparative of G-banded chromosome of Assam Macaque (Macaca assamensis) and relationship to human (Homo sapiens) [PDF]

open access: yesSongklanakarin Journal of Science and Technology (SJST), 2006
This research was the first to report a comparative analysis of G-banded chromosome of Assam macaque, Macaca assamensis (Primate, Cercopithecidae) and relationship to human, Homo sapiens (Primate, Hominidae).
Bunjongrat, R.   +3 more
doaj  

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