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Book Chapter
Series: Monographs in Human Genetics
Volume: 21
Published: 11 September 2017
10.1159/000477278
EISBN: 978-3-318-06098-0
... Abstract In the euchromatic part of the long arm of the human Y chromosome (Yq11) at least 13 Y genes encoding proteins and expressed in male germ cells were found in 3 distinct genomic Y regions frequently deleted in infertile men with idiopathic azoospermia, i.e., for unknown reasons...
Book Chapter
Series: Monographs in Human Genetics
Volume: 18
Published: 15 February 2010
10.1159/000287603
EISBN: 978-3-8055-9281-9
... and it has been reported in mosaic and non-mosaic forms; it may occur de novo or be inherited and be associated with ring chromosome 22 and in rare cases with proximal inverted duplications. Rare terminal duplications of 22q13 have also been found. Haploinsufficiency of the SHANK3/ProSAP2 gene, less than...
Book
Book Cover Image
Published: 08 July 2009
10.1159/isbn.978-3-8055-9213-0
EISBN: 978-3-8055-9213-0
Book Chapter
Series: Genome Dynamics
Volume: 3
Published: 13 September 2007
10.1159/000107606
EISBN: 978-3-8055-8341-1
... Abstract Sex chromosomes have arisen from autosomes many times over the course of evolution.This process generates chromosomal heteromorphy between the sexes, which has importantimplications for the evolution of coding and noncoding sequences on the sex chromosomesversus the autosomes...
Book Chapter
Series: Genome Dynamics
Volume: 1
Published: 27 March 2006
10.1159/000092505
EISBN: 978-3-318-01290-3
.... Since the genome is under constant threat from DNA damage due to radiation, chemicalsand replication errors, checkpoint dysregulation can cause catastrophic DNA damage,resulting in chromosome instability, aneuploidy, and even tumorigenesis. Two parallel pathwaysthat respond to DNA-damage stress have...
Book
Book Cover Image
Published: 10 June 2004
10.1159/isbn.978-3-318-01100-5
EISBN: 978-3-318-01100-5
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Published: 23 November 1993
10.1159/isbn.978-3-8055-7345-0