Zobrazeno 1 - 10
of 16
pro vyhledávání: '"M. W. Kilpatrick"'
Autor:
P A Farndon, Hans Eiberg, C A Francomano, S H Blanton, Mansoor Sarfarazi, J de Groote, L Peltonen, F M Pope, M W Kilpatrick, A H Child
Publikováno v:
Journal of Medical Genetics. 27:73-77
The combined genetic data between the Marfan syndrome and 75 informative loci on 18 autosomes were used to construct an exclusion map for this disorder. Data are also presented for a further two unmapped markers. The most likely location of the Marfa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fddee23c958acb1536324ff7494eaf9
https://doi.org/10.1136/jmg.27.2.73
https://doi.org/10.1136/jmg.27.2.73
Publikováno v:
Clinical genetics. 64(4)
Split hand foot malformation (SHFM) is a congenital limb malformation presenting with a median cleft of the hand and/or foot, syndactyly and polydactyly. SHFM is genetically heterogeneous with four loci mapped to date. Murine Dactylaplasia (Dac) is p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::41c2d9494cd9776e91296587e6478298
https://pubmed.ncbi.nlm.nih.gov/12974740
https://pubmed.ncbi.nlm.nih.gov/12974740
Publikováno v:
British Journal of Ophthalmology. 77:168-170
A four generation family in which familial exudative vitreoretinopathy is inherited as an X linked condition is described. Essentially the condition is one of abnormal vascularisation and signs at birth are those of a retinopathy superficially resemb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bea2d02a1b467e91c1bc0963120a13c
https://doi.org/10.1136/bjo.77.3.168
https://doi.org/10.1136/bjo.77.3.168
Publikováno v:
Methods in enzymology. 313
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cc97b40ee24272f109886a24f96a54cd
https://pubmed.ncbi.nlm.nih.gov/10595375
https://pubmed.ncbi.nlm.nih.gov/10595375
Publikováno v:
Scopus-Elsevier
The insulin gene-linked polymorphic region (ILPR), located 363 bp upstream of the human insulin gene, is composed of tandem repeats of the consensus sequence ACAGGGGT(G/C)(T/C)GGGG. It has previously been shown that an insulin gene fragment containin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e66e372244cf7ed8dc0b164e1cb4f96
https://pubmed.ncbi.nlm.nih.gov/8484861
https://pubmed.ncbi.nlm.nih.gov/8484861
Publikováno v:
Scopus-Elsevier
An altered DNA structure exists within the hypervariable region located 360 bp upstream of the human insulin gene. The aim of the present study was to determine whether this structure exists in the insulin gene in vivo, and whether its presence is re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5c870b59a367cb1c9b3fd0e19ad26f7
https://pubmed.ncbi.nlm.nih.gov/1476609
https://pubmed.ncbi.nlm.nih.gov/1476609
Autor:
K, Kainulainen, B, Steinmann, F, Collins, H C, Dietz, C A, Francomano, A, Child, M W, Kilpatrick, D J, Brock, M, Keston, R E, Pyeritz
Publikováno v:
American journal of human genetics. 49(3)
Marfan syndrome is a dominantly inherited connective tissue disorder with manifestations in the cardiovascular, ocular, and skeletal systems. The diagnosis is hampered by both high variability in the phenotypic expression and late manifestation of sy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3d371f9d3c709d27172eb01a37356880
https://pubmed.ncbi.nlm.nih.gov/1882844
https://pubmed.ncbi.nlm.nih.gov/1882844
Publikováno v:
Journal of Medical Genetics. 32:492-493
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee955588f734d3b191c1d99302ffce17
https://doi.org/10.1136/jmg.32.6.492-a
https://doi.org/10.1136/jmg.32.6.492-a
Publikováno v:
Journal of Biological Chemistry. 259:1963-1967
The ability of negative supercoiling to induce a left-handed helix in the recombinant plasmid pRW777, which contains a tract of 64 base pairs of almost perfect (dT-dG) . (dC-dA) from the mouse kappa immunoglobin gene, was studied. S1 nuclease recogni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::024cca3a1711cd985b4918c0542cfee8
https://doi.org/10.1016/s0021-9258(17)43501-0
https://doi.org/10.1016/s0021-9258(17)43501-0
Publikováno v:
Journal of Biological Chemistry. 261:11350-11354
More than 80% (approximately 29 kilobase pairs) of the adenovirus serotype 2 genome was surveyed for the presence of unusual DNA conformations. Seven recombinant DNAs containing the largest HindIII fragments of AD2 DNA were analyzed for the presence
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8cd41e4ecf2e69e515b1746fb26a1cd3
https://doi.org/10.1016/s0021-9258(18)67390-9
https://doi.org/10.1016/s0021-9258(18)67390-9