Výsledky vyhledávání

The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings

Autor: R S, Devon, J R, Helm, G A, Rouleau, Y, Leitner, T, Lerman-Sagie, D, Lev, M R, Hayden

Publikováno v: Clinical genetics. 64(3)

Eight mutations in the ALS2 gene have been described as causing autosomal-recessive juvenile-onset forms of the motor neuron diseases amyotrophic lateral sclerosis, primary lateral sclerosis and hereditary spastic paraplegia. All mutations are small

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::162285aea162b286b4c15fb89e32731d
https://pubmed.ncbi.nlm.nih.gov/12919135

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Novel transcribed sequences neighbouring a translocation breakpoint associated with schizophrenia

Autor: R S, Devon, K L, Evans, J C, Maule, S, Christie, S, Anderson, J, Brown, Y, Shibasaki, D J, Porteous, A J, Brookes

Publikováno v: American journal of medical genetics. 74(1)

A 1.3Mb chromosome 11-specific yeast artificial chromosome (YAC) that spans a t(1;11) translocation breakpoint associated with major psychosis has been used to enrich cDNAs that are encoded within it and expressed in the human foetal brain. Database

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7baa1b07c160bb20a3829bcc8844a077
https://pubmed.ncbi.nlm.nih.gov/9034012

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Catch-linker + PCR labeling: a simple method to generate fluorescence in situ hybridization probes from yeast artificial chromosomes

Autor: R S Devon, E M Slorach, John C. Maule, Y Shibasaki, J R Gosden, David J. Porteous, Anthony J. Brookes

Publikováno v: PCR methods and applications. 4(4)

A simple and efficient method to generate hapten-labeled DNA fragments from a trace amount of YAC DNA isolated by PFGE is described. After agarase digestion of the gel slice containing the resolved YAC recombinant, the purified DNA is digested with S

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bd6bbd263b6dc28e7d3dace72813163
https://pubmed.ncbi.nlm.nih.gov/8574188

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Akademický článek

Silencing RNA for MMPs May Be Utilized for Cardioprotection.

Autor: Banaszkiewicz, Marta¹ (AUTHOR), Krzywonos-Zawadzka, Anna¹ (AUTHOR), Olejnik, Agnieszka¹ (AUTHOR), Noszczyk-Nowak, Agnieszka² (AUTHOR), Bil-Lula, Iwona¹ (AUTHOR)

Publikováno v: Cardiovascular Therapeutics. 8/24/2022, p1-12. 12p.

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Akademický článek

Immune Dysregulation in a Child With SOD1-Related Neurological Disease.

Autor: Boutin RCT; Provincial Medical Genetics Program, British Columbia Women's Hospital, Vancouver, British Columbia, Canada.; Department of Medical Genetics, Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada., Shobeirian F; Department of Pediatric Radiology, Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada., Adam S; Department of Medical Genetics, Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada., Lehman A; Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, British Columbia, Canada., Salvarinova R; Division of Biochemical Genetics, Department of Pediatrics, British Columbia Children's Hospital, Vancouver, British Columbia, Canada., Friedman JM; Department of Medical Genetics, Faculty of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Dec 04, pp. e63949. Date of Electronic Publication: 2024 Dec 04.

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