Zobrazeno 1 - 10
of 94
pro vyhledávání: '"Slaugenhaupt, S. A."'
643: A novel splice modulator compound corrects splicing defect caused by c.2988G >A variant in CFTR
Publikováno v:
In Journal of Cystic Fibrosis November 2021 20 Supplement 2:S305-S306
Autor:
Arboleda Velásquez, Joseph Fitzgerald, Lopera Restrepo, Francisco Javier, López Alzate, María Elizabeth, Frosch, Matthew P., Sepúlveda Falla, Diego, Gutiérrez, Juan E., Vargas, S., Álvarez Medina, María de Lourdes, Medina, M., Martínez de Arrieta, C., Lebo, R. V., Slaugenhaupt, S. A., Betensky, Rebecca A., Sánchez Villegas, Almudena, Arcos Burgos, Oscar Mauricio, Rivera, D., Restrepo Medrano, Juan Carlos, Kosik, Kenneth S.
Publikováno v:
Repositorio UdeA
Universidad de Antioquia
instacron:Universidad de Antioquia
Universidad de Antioquia
instacron:Universidad de Antioquia
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the notch3 epidermal growth factor–like repeats. A Colombian kindred carries a novel C455R mutation located in the predic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b35b1e8c55efc83ffbee9384fed5c2fe
https://doi.org/10.1212/wnl.59.2.277
https://doi.org/10.1212/wnl.59.2.277
Autor:
Yu, M., Dina, C., Tucker, N., Delling, F., Slaugenhaupt, S., Levine, R.A., Hagège, A.A., Schott, J., Jeunemaitre, X., Milan, D., Norris, R., Bouatia-Naji, N.
Publikováno v:
In Archives of Cardiovascular Diseases Supplements January 2017 9(1):96-96
Autor:
Povey, S, Attwood, J, Chadwick, B, Frezal, J, Haines, JL, Knowles, M, Kwiatkowski, DJ, Olopade, OI, Slaugenhaupt, S, Spurr, NK, Smith, M, Steel, K, White, JA, Pericak-Vance, MA
Publikováno v:
Povey, S; Attwood, J; Chadwick, B; Frezal, J; Haines, JL; Knowles, M; et al.(1997). Report on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4-6, 1996.. Annals of human genetics, 61(Pt 3), 183-206. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/23n2z8b0
The Fifth International workshop on chromosome 9 comprised a gathering of 36 scientists from seven countries and included a fairly even distribution of interests along chromosome 9 as well as a strong input from more global activities and from compar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::4a10655fa7ad45bdcf0865dfb01a1fb1
http://www.escholarship.org/uc/item/23n2z8b0
http://www.escholarship.org/uc/item/23n2z8b0
Autor:
Povey, S, Attvvood, J, Chadwick, B, Frezal, J, Haines, JL, Knowles, M, Kwiatkowski, DJ, Olopade, OI, Slaugenhaupt, S, Spurr, NK, Smith, M, Steel, K, White, JA, Pericak-Vance, MA
Publikováno v:
Povey, S; Attvvood, J; Chadwick, B; Frezal, J; Haines, JL; Knowles, M; et al.(1997). Report on the 1996 International chromosome 9 workshop. Annals of Human Genetics, 61(3), 183-206. doi: 10.1017/S0003480097006106. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/34z9d12g
The Fifth International workshop on chromosome 9 comprised a gathering of 36 scientists from seven countries and included a fairly even distribution of interests along chromosome 9 as well as a strong input from more global activities and from compar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::e2d82e3de234bb4b171ff085ed16221f
http://www.escholarship.org/uc/item/34z9d12g
http://www.escholarship.org/uc/item/34z9d12g
An index marker map of chromosome 9 has been constructed using the Centre d'Etude du Polymorphisme Humain reference pedigrees. The map comprises 26 markers, with a maximum intermarker interval of 13.1 cM and only two intervals > 10 cM. Placement of a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9870539f2230e297944376ec37ff441d
https://europepmc.org/articles/PMC1682475/
https://europepmc.org/articles/PMC1682475/
Autor:
Stylianos Antonarakis, Petersen, M. B., Mcinnis, M. G., Adelsberger, P. A., Schinzel, A. A., Binkert, F., Pangalos, C., Raoul, O., Slaugenhaupt, S. A., Hafez, M., Cohen, M. M., Roulson, D., Schwartz, S., Mikkelsen, M., Tranebjaerg, L., Greenberg, F., Hoar, D. I., Rudd, N. L., Warren, A. C., Metaxotou, C., Bartsocas, C., Chakravarti, A.
Publikováno v:
Scopus-Elsevier
We have studied DNA polymorphisms at loci in the pericentromeric region on the long arm of chromosome 21 in 200 families with trisomy 21, in order to determine the meiotic origin of nondisjunction. Maintenance of heterozygosity for parental markers i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a614a3ebadf1c798d2e46c2c627cc24e
https://europepmc.org/articles/PMC1684265/
https://europepmc.org/articles/PMC1684265/
Autor:
Patel, P I, Franco, B, Garcia, C, Slaugenhaupt, S A, Nakamura, Y, Ledbetter, D H, Chakravarti, A, Lupski, J R
We have performed linkage analysis in a large French-Acadian kindred segregating one form of autosomal dominant Charcot-Marie-Tooth disease (CMTD) (type IA) using 17 polymorphic DNA markers spanning human chromosome 17 and demonstrate linkage to seve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::890b5f80320b6e6bc744b97e17cb2bf6
https://europepmc.org/articles/PMC1683666/
https://europepmc.org/articles/PMC1683666/
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