Výsledky vyhledávání

Genotype prediction in the fragile X syndrome

Autor: Charles E. Schwartz, Y. Nakahori, Kay E. Davies, J. M. Connor, J. P. Fryns, Mark C. Hirst, A. Roche, S. N. Thibodeau, Samantha J. L. Knight, T. J. Flint

Publikováno v: Journal of Medical Genetics. 28:824-829

Fragile X positive, mentally retarded males have been shown to have an insertion or amplification of DNA sequences at, or close to, the site of expression of the fragile site. We show here the application of the detection of such changes to the diagn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::338ece4fd719cae6a6cb4a5f98dc406b
https://doi.org/10.1136/jmg.28.12.824

Zobrazit plný text záznamu

A genome-wide search for risk genes using homozygosity mapping and microarrays with 1,494 single-nucleotide polymorphisms in 22 eastern Cuban families with bipolar disorder

Autor: H, Ewald, F P, Wikman, B M, Teruel, H N, Buttenschön, M, Torralba, T D, Als, A, El Daoud, T J, Flint, T H, Jorgensen, L, Blanco, T A, Kruse, T F, Orntoft, O, Mors

Publikováno v: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. (1)

Homozygosity mapping is a very powerful method for finding rare recessive disease genes in monogenic disorders and may also be useful for locating risk genes in complex disorders, late onset disorders where parents often are not available, and for ra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::81427281b3784f7d2dbc553d9cb24aa3
https://pubmed.ncbi.nlm.nih.gov/15558715

Zobrazit plný text záznamu

Linkage analysis of spinal muscular atrophy

Autor: William O.C.M. Cookson, T. C. Gilliam, Kay E. Davies, R. J. Daniels, Jurg Ott, Marcella Rietschel, Linda M. Brzustowicz, J. Ignatius, Ruth N. MacKinnon, Victor Dubowitz, N.H. Thomas, M. Donner, Klaus Zerres, T. J. Flint, Thomas Lehner

Publikováno v: Genomics. 12(2)

Linkage data between four markers on chromosome 5 confirm and extend our previous studies that localized the mutation in spinal muscular atrophy to 5q11.2-q13.3. Localization of D5S6 by in situ hybridization refines the mapping of the defective gene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ee96054223c9e98941fa961569297c9
https://pubmed.ncbi.nlm.nih.gov/1346777

Zobrazit plný text záznamu

Akademický článek

Metagenomic reveals succession in the bacterial community and predicts changes in raw milk during refrigeration.

Autor: Guo, Rong¹ (AUTHOR), Ju, Ning¹ (AUTHOR) juning1122@163.com, Wang, Yuanyuan¹ (AUTHOR), Gou, Meng¹ (AUTHOR), Li, Puyu¹ (AUTHOR), Luo, Yulong¹ (AUTHOR)

Publikováno v: Journal of Food Safety. Apr2023, Vol. 43 Issue 2, p1-12. 12p.

Zobrazit plný text záznamu

Plný text ve formátu HTML

Incomplete subaortic stenotic rings in domestic animals--a newly described congenital anomaly

Autor: J M, King, T J, Flint, W I, Anderson

Publikováno v: The Cornell veterinarian. 78(3)

A newly described congenital heart anomaly, the incomplete subaortic stenotic ring was detected at necropsy in four dogs, one cat, one cow, one horse, one sheep and one pig. These structures were grossly and histologically similar to complete subaort

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::41b08b3ad07211bff7be79f6a3afb44c
https://pubmed.ncbi.nlm.nih.gov/3402221

Zobrazit plný text záznamu