Zobrazeno 1 - 10
of 18
pro vyhledávání: '"S. M. Darling"'
Publikováno v:
Clinical genetics, 29(3), 251-257. Wiley-Blackwell
A newborn girl, homozygous for a balanced Y/22 chromosome translocation is described. This unique karyotype was detected during prenatal chromosome studies in the first pregnancy of a 26-year-old woman. Amniocentesis was performed because of clinical
Publikováno v:
The International journal of developmental biology. 41(5)
The semidominant mouse mutation hypodactyly (Hd), caused by a deletion within the Hoxa13 gene, results in reduced digits; heterozygotes lack digit I in the hindlimb and homozygotes have only one digit on each limb. We investigated expression of Shh a
Publikováno v:
Developmental genetics. 19(1)
The limb defect in the mouse Hypodactyly (Hd) affects only the distal structures. Heterozygotes (Hd/+) lack all or part of the distal phalanx and the terminal claw of digit on the hindlimbs; mice homozygous (Hd/Hd) for the mutation have just one digi
Autor:
Paul S. Burgoyne, Á. Rattigan, Blanche Capel, S. M. Darling, Shantha K. Mahadevaiah, S. J. Conway
Publikováno v:
Mammalian genome : official journal of the International Mammalian Genome Society. 5(4)
There is evidence from Y Chromosome (Chr) deletion mapping that there is a gene on the long arm of the mouse Y Chr that is needed for the normal development of the sperm head. Since mice with partial Y long arm deletions show incomplete penetrance of
Autor:
Veronica J. Buckle, P. W. J. Rigby, I.W. Craig, J. Wolfe, Huntington F. Willard, S M Darling, Peter N. Goodfellow, Robert P. Erickson
Publikováno v:
Journal of Molecular Biology. 182:477-485
A collection of human Y-derived cosmid clones was screened with a plasmid insert containing a member of the human X chromosome alphoid repeat family, DXZ1. Two positive cosmids were isolated and the repeats they contained were investigated by Souther
Publikováno v:
Molecular Immunology. 26:181-188
The MIC 2 locus is located in the pseudoautosomal (pairing) region of human X and Y chromosomes (Goodfellow et al. , Science 234 , 740–743, 1986). Despite extensive molecular analysis of MIC 2 (see Darling et al. , Cold Spring Harb. Symp. quant. Bi
Publikováno v:
Europe PubMed Central
Publikováno v:
Scopus-Elsevier
We have identified and characterized a Hpa II tiny fragment (HTF) island associated with the promoter region of the pseudoautosomal gene MIC2. The MIC2 HTF island is unmethylated on both the active and inactive X chromosome and is similarly unmethyla
Publikováno v:
Proceedings of the National Academy of Sciences. 83:135-139
The existence of genes shared by mammalian sex chromosomes has been predicted on both evolutionary and functional grounds. However, the only experimental evidence for such genes in humans is the cell-surface antigen encoded by loci on the X and Y chr
Publikováno v:
Industrial & Engineering Chemistry. 43:2841-2844