[HTML][HTML] The human Y chromosome: the biological role of a “functional wasteland”
L Quintana-Murci, M Fellous - Journal of Biomedicine and …, 2001 - ncbi.nlm.nih.gov
Abstract “Functional wasteland,”“Nonrecombining desert,” and “Gene-poor chromosome”
are only some examples of the different definitions given to the Y chromosome in the last …
are only some examples of the different definitions given to the Y chromosome in the last …
Turner syndrome and haploinsufficiency
Turner syndrome was one of the first human genetic disorders ascribed to haploinsufficiency
but the identification of specific genes responsible for the phenotype has been problematic …
but the identification of specific genes responsible for the phenotype has been problematic …
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
Growth retardation resulting in short stature is a major concern for parents and due to its
great variety of causes, a complex diagnostic challenge for clinicians. A major locus involved …
great variety of causes, a complex diagnostic challenge for clinicians. A major locus involved …
Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y …
GM Brown, RA Furlong, CA Sargent… - Human Molecular …, 1998 - academic.oup.com
DFFRY (the Y-linked homologue of the DFFRX Drosophila fat-facets related X gene) maps
to proximal Yq11. 2 within the interval defining the AZFa spermatogenic phenotype. The …
to proximal Yq11. 2 within the interval defining the AZFa spermatogenic phenotype. The …
Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location
CA Boucher, CA Sargent, T Ogata… - Journal of medical …, 2001 - jmg.bmj.com
BACKGROUND Turner syndrome is characterised by a 45, X karyotype and a variety of
skeletal, lymphoedemic, and gonadal anomalies. Genes involved in the Turner phenotype …
skeletal, lymphoedemic, and gonadal anomalies. Genes involved in the Turner phenotype …
Genomics of the human Y-chromosome: 1. Association with male infertility
S Ali, SE Hasnain - Gene, 2003 - Elsevier
The human Y chromosome contains over 60 million nucleotides, but least number of genes
compared to any other chromosome and acts as a genetic determinant of the male …
compared to any other chromosome and acts as a genetic determinant of the male …
The human Y chromosome and male infertility
K McElreavey, C Krausz, CE Bishop - The genetic basis of male infertility, 2000 - Springer
Although most of the human Y does not normally recombine with the X chromosome, there
are two limited regions of sequence identity with the X that permit pairing and recombination …
are two limited regions of sequence identity with the X that permit pairing and recombination …
Isodicentric Y chromosomes in Egyptian patients with disorders of sex development (DSD)
M Mekkawy, A Kamel, M El‐Ruby… - American Journal of …, 2012 - Wiley Online Library
Isodicentric chromosome formation is the most common structural abnormality of the Y
chromosome. As dicentrics are mitotically unstable, they are subsequently lost during cell …
chromosome. As dicentrics are mitotically unstable, they are subsequently lost during cell …
Y chromosome and male infertility
HJ Cooke - Reviews of Reproduction, 1999 - rep.bioscientifica.com
Recent genome analysis of the Y chromosome has increased the number of genes found on
this chromosome markedly. Many of these genes in the part of the Y chromosome that does …
this chromosome markedly. Many of these genes in the part of the Y chromosome that does …
Mutations of the cystic fibrosis gene and congenital absence of the vas deferens
P Patrizio, DGB Leonard - The Genetic Basis of Male Infertility, 2000 - Springer
It is estimated that about 30 to 40% of couples seeking fertility treatments are diagnosed with
male factor infertility. These males have a range of gonadal dysfunctions which include …
male factor infertility. These males have a range of gonadal dysfunctions which include …