Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Scott Vacha"'
Autor:
Rebecca Riley-Berger, Scott Vacha, Larry Harshman, Greg Gibson, Sergey V. Nuzhdin, Marta L. Wayne, Artyom Kopp
Publikováno v:
Genetics. 167:1791-1799
Assessment of the degree to which gene expression is additive and heritable has important implications for understanding the maintenance of variation, adaptation, phenotypic divergence, and the mapping of genotype onto phenotype. We used whole-genome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70bc40e5e5b92a772367544bd68ebe1c
https://doi.org/10.1534/genetics.104.026583
https://doi.org/10.1534/genetics.104.026583
Publikováno v:
Clinical Genetics. 58:386-389
We report 3 patients with Proteus syndrome (PS) who died suddenly from pulmonary embolism (PE). The first patient was a male diagnosed with PS at 12 years who had varicose veins, portal vein thrombosis, right iliac vein occlusion and recurrent PE. At
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b759fa32343c52af68c888cd5128552c
https://doi.org/10.1034/j.1399-0004.2000.580509.x
https://doi.org/10.1034/j.1399-0004.2000.580509.x
Publikováno v:
American Journal of Medical Genetics. 86:269-273
The oral-facial-digital syndrome type 1 (OFD1) includes limb, facial, intraoral malformations and the gene for the disorder was recently mapped to Xp22.3-p22.2. We report on monozygotic twin girls discordant for OFD1. Monozygosity is supported by pla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7798f41c53f2da4a2b01cc62fe28bd75
https://doi.org/10.1002/(sici)1096-8628(19990917)86:3<269::aid-ajmg14>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19990917)86:3<269::aid-ajmg14>3.0.co
Publikováno v:
Lancet (London, England). 358(9298)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5c062f00028de3e544bcc07638153c3
https://pubmed.ncbi.nlm.nih.gov/11476841
https://pubmed.ncbi.nlm.nih.gov/11476841
Publikováno v:
Genetics in Medicine. 2:87
We report two children with Proteus syndrome (PS) who died suddenly from pulmonary embolism (PE). Clinical criteria for PS diagnosis adheres to published criteria (Biesecker, et al., 1999). Case 1 was a 9yo male whose manifestations included connecti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fe6fa75de342a42113169938aa6fac10
https://doi.org/10.1097/00125817-200001000-00131
https://doi.org/10.1097/00125817-200001000-00131
Publikováno v:
Developmental Biology. (2):479-498
The connexin43 knockout (Cx43alpha1 KO) mouse dies at birth from outflow obstruction associated with infundibular pouches. To elucidate the origin of the infundibular pouches, we used microarray analysis to investigate gene expression changes in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::180ba097fba1bd7fda32414b4d010afa