Results 1 to 10 of about 168,653 (232)

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

Neonatal 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, Na Mi Lee, In Seok Lim, Soo Ahn Chae, Sin Weon Yun, Dae Yong Yi, Su Yeong Kim   +6 more
doaj   +1 more source

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

PLoS 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

Microbial 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, Maria del Carmen Sanchez Olmos, Adan Andres Ramirez Rojas, Daniel Schindler, Daniel Robertson, Stephen McColm, Adele L. Marston, Paul N. Barlow   +7 more
doaj   +1 more source

Neuroligins and Neurodevelopmental Disorders: X-Linked Genetics

Frontiers 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, Thien A. Nguyen, Alexander W. Lehr, Katherine W. Roche   +3 more
doaj   +1 more source

Localization, analysis and evolution of transposed human immunoglobulin VK genes [PDF]

, 1988
The localization of Vκ gene regions to chromosome 2, on which the κ locus is located, and to other chromosomes is described. The Vκ genes that have been transposed to other chromosomes are called orphons.
Bauer, Bernhard Straubinger, Church, Erika Lötscher, Falkner, Franz-Josef Zimmer, Hans G. Zachau, Holst, Honjo, Jaenichen, Kabat, Karl-Heinz Grzeschik, Klobeck, Lorenz, Lötscher, Lötscher, Lötscher, Malcolm, McBride, Pech, Pech, Pohlenz, Pohlenz, Rita Jaenichen, Straubinger, Straubinger, Thomas Klopstock, Tonegawa   +27 more
core   +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

Genomics, 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, S J, Durfy, D, Pinkel, S, Kenwrick, M, Patterson, K E, Davies, H F, Willard   +6 more
openaire   +2 more sources

Relative proximity of chromosome territories influences chromosome exchange partners in radiation-induced chromosome rearrangements in primary human bronchial epithelial cells [PDF]

, 2013
Copyright © 2013 The Authors. This article is made available through the Brunel Open Access Publishing Fund. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-No Derivative Works License, which ...
Anderson, RM, Bridger, JM, Estrada-Girona, G, Foster, HA, Garimberti, E, Hill, MA, Themis, M   +6 more
core   +1 more source

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

Comparative 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, Arunrat Chaveerach, Runglawan Sudmoon, Tawatchai Tanee   +3 more
doaj   +3 more sources

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

BMC 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, Teichmanová Radka, Sater Amy K, Wells Dan E, Tlapáková Tereza, Zimmerman Lyle B, Krylov Vladimír   +6 more
doaj   +1 more source

The origin of human chromosome 2 analyzed by comparative chromosome mapping with a DNA microlibrary [PDF]

, 1994
Fluorescencein situ hybridization (FISH) of microlibraries established from distinct chromosome subregions can test the evolutionary conservation of chromosome bands as well as chromosomal rearrangements that occurred during primate evolution and will ...
A Baldini, A Jauch, A. Jauch, B Dutrillaux, B. Horsthemke, C Lengauer, C Lengauer, C Lengauer, C. Lengauer, D Pinkel, G. Senger, H-J Lüdecke, H. -J. L�decke, J Wienberg, J Wienberg, J. Wienberg, JJ Yunis, JW Ijdo, LEM Boer de, M Djalali, M Klever, N. Arnold, P Lichter, R Avarello, R Stanyon, R Stanyon, RA Wells, T Cremer, T Ried, T. Cremer, U Trautmann, U. Claussen, Z Gelman-Kohan   +32 more
core   +1 more source