Zobrazeno 1 - 10
of 13
pro vyhledávání: '"C T, Baldwin"'
Autor:
D F, Wyszynski, C T, Baldwin, M A, Cleves, Y, Amirault, V G, Nolan, J J, Farrell, A, Bisbee, A, Kutlar, L A, Farrer, M H, Steinberg
Publikováno v:
Cellular and molecular biology (Noisy-le-Grand, France). 50(1)
In patients with sickle cell anemia, fetal hemoglobin (HbF) concentrations vary by 2 orders of magnitude. This variance may be a result of heterogeneity in gene regulatory elements; accordingly, we searched for single nucleotide polymorphisms (SNPs)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::12b42fafdce0c300f6cd09ae0991a485
https://pubmed.ncbi.nlm.nih.gov/15040424
https://pubmed.ncbi.nlm.nih.gov/15040424
Autor:
A L, DeStefano, H, Gavras, N, Heard-Costa, M, Bursztyn, A, Manolis, L A, Farrer, C T, Baldwin, I, Gavras, F, Schwartz
Publikováno v:
Clinical genetics. 60(1)
To assess maternal versus paternal contributions to the familial aggregation of hypertension, we examined family history data from 344 hypertensive probands (69 African American, 153 US Caucasian, 122 Greek Caucasian) ascertained without respect to p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::66bc2d580688d5819680ffd0fe0b5fe8
https://pubmed.ncbi.nlm.nih.gov/11531965
https://pubmed.ncbi.nlm.nih.gov/11531965
Publikováno v:
Clinical genetics. 56(1)
Autosomal recessive achromatopsia is a rare disorder characterized by total absent color vision, nystagmus, photophobia, and visual impairment, frequently leading to 'legal blindness'. The primary defect is at the photoreceptor level, with retinal co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9a9ef692e06040326e52bff63624cdbd
https://pubmed.ncbi.nlm.nih.gov/10466422
https://pubmed.ncbi.nlm.nih.gov/10466422
Autor:
O, Joost, C A, Taylor, C A, Thomas, L A, Cupples, M H, Saint-Hilaire, R G, Feldman, C T, Baldwin, R H, Myers
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 14(4)
The reduction or loss of cytochrome P450 enzyme activity as a result of mutations in the CYP2D6 gene has been suggested as a risk factor for Parkinson's disease (PD). Conflicting results among reported studies of the prevalence of mutations among pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b9919c7fcf95c60ded095f06854295c3
https://pubmed.ncbi.nlm.nih.gov/10435495
https://pubmed.ncbi.nlm.nih.gov/10435495
Publikováno v:
American journal of medical genetics. 72(1)
Familial paragangliomas (PGL), or glomus tumors, are slow-growing, highly vascular, generally benign neoplasms usually of the head and neck that arise from neural crest cells. This rare autosomal-dominant disorder is highly penetrant and influenced b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bf48e3369722ef02ec1eda078448d97a
https://pubmed.ncbi.nlm.nih.gov/9295078
https://pubmed.ncbi.nlm.nih.gov/9295078
Autor:
B, Bonné-Tamir, A L, DeStefano, C E, Briggs, R, Adair, B, Franklyn, S, Weiss, M, Korostishevsky, M, Frydman, C T, Baldwin, L A, Farrer
Publikováno v:
American journal of human genetics. 58(6)
Deafness is a heterogeneous trait affecting approximately 1/1,000 newborns. Genetic linkage studies have already implicated more than a dozen distinct loci causing deafness. We conducted a genome search for linkage in a large Palestinian family segre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fbfd2d32c7606c7a7721a0cadb488b6e
https://pubmed.ncbi.nlm.nih.gov/8651303
https://pubmed.ncbi.nlm.nih.gov/8651303
Publikováno v:
American journal of human genetics. 56(3)
Calcium pyrophosphate-deposition disease (CPDD), also called "chondrocalcinosis" or "pseudogout," is a disorder characterized by the deposition of calcium-containing crystals in joint tissue, which leads to arthritis-like symptoms. The presence of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7e8392197585d56e29ae7fdebd87d6d9
https://pubmed.ncbi.nlm.nih.gov/7887424
https://pubmed.ncbi.nlm.nih.gov/7887424
Publikováno v:
The Journal of biological chemistry. 266(18)
Cultured skin fibroblasts from a proband with osteogenesis imperfecta were found to synthesize normal and shortened alpha 2(I) chains of type I procollagen. A cDNA library was prepared using mRNA isolated from the proband's fibroblasts. Partial nucle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::45648542c567b9331fdfcd8756d4922d
https://pubmed.ncbi.nlm.nih.gov/1711048
https://pubmed.ncbi.nlm.nih.gov/1711048
Autor:
C. T. Baldwin, H. D. Johnson
Publikováno v:
Scottish Journal of Geology. 13:143-154
Introduction General description of Guide This guide describes the rocks seen on a west to east traverse across the islands of Lunga, Luing and Shuna (Fig. 1), as well as lateral facies changes recognized in Dalradian metasedimentary rocks along thes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b25099d700333e36c121629313c9b11c
https://doi.org/10.1144/sjg13020143
https://doi.org/10.1144/sjg13020143
Publikováno v:
Journal of the Geological Society. 139:455-463
Deposition of Dalradian sediments in a stretching ensialic basin peripheral to Iapetus continued into Cambrian times. Late in the history of Dalradian deposition a southern continental landmass was removed by strike-slip motions and a subduction zone
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d299e96a370f48196e03d154ed66803c
https://doi.org/10.1144/gsjgs.139.4.0455
https://doi.org/10.1144/gsjgs.139.4.0455