Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?

Autor: K. M. Usrey, C. A. Williams, M. Dasouki, L. C. Fairbrother, M. G. Butler

Publikováno v: Case Reports in Genetics, Vol 2014 (2014)

The proximal 15q11–q13 region contains 5 breakpoints (BP1–BP5). The BP1-BP2 region spans approximately 500 kb and contains four evolutionarily conserved genes. The genes in this region are known to play a role in central nervous system developmen

Externí odkaz: https://doaj.org/article/2da71fecb7aa47cf90187b50812ba998

VP06.12: The use of microarray analysis for prenatal diagnosis in King Faisal Specialist Hospital

Autor: M. Ali, M. Dasouki, A. Rehaili, Y. Kattan, W. Kurdi

Publikováno v: Ultrasound in Obstetrics & Gynecology. 56:78-78

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e5d9f882f24f0fd79ba0a0bbdb262446
https://doi.org/10.1002/uog.22424

Peroxisomal disorders

Autor: M. Dasouki

Peroxisomes are ubiquitous dynamic and interactive subcellular cytoplasmic organelles with diverse biochemical functions including the metabolism of very long chain fatty acids (VLCFAs), biosynthesis of plasmalogens, cholesterol, and bile acids, as w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e97247ba091cd7eb6a6317e2e3385b71
https://doi.org/10.1016/b978-0-12-802896-4.00007-9

Contents, Vol. 70, 1995

Autor: G.M. Landes, J.M. Bishop, J. Louhimo, M.L. Freeman, S.S. Kakar, K. Sudo, P. Kunapuli, X. Li, M.R.S. Krishnamani, M.E. Curran, H. Hayes, D.C. Ward, K.W. Gripp, R. Iida, L.A. Pérez Jurado, N. Hayashi, M. Amagai, U. Francke, D. Nadano, M.L. Summar, K. Omoe, M. Aronson, H. Nagase, T. Ishida, K. Ohata, S.C. Maric, B. Dutrillaux, F. Apiou, D.F. Callen, D.W. Bell, G. Goubin, Y. Nakamura, E. Takahashi, B. Schlegelberger, P.N. Tsichlis, H. Hameister, C. Van Broeckhoven, J. Kudoh, E.L.D. Mitchell, E. Sierra-Rivera, S.M. Gartler, M. Schertzer, M. Ogawa, J.L. Benovic, H. Mizusawa, H. Sugawara, C.A. Griffin, N.A. Jenkins, S. Shin, H.L. Grimes, C.I. Civin, M. Yerle, S. Hoyer-Fender, K. Chinen, E. Shtivelman, H. Arakawa, L.A. Cannizzaro, K. Kishi, J.M. Varley, L. Pibouin, H. Yasue, F. Bullrich, Y.-J. Chen, J. Lasota, E.P. Cribiu, M.F. Santibanez Koref, G.R.M. White, S.A. Lane, T. Itoh, D.J. Gilbert, Y. Murakami, J.R. Testa, D. Jones, O.A. Jänne, W. Grote, M.L. Yaremko, M. Poetsch, H. Takeshita, E. Kim, T. Yasuda, T. Sofuni, T. Druck, J.M. Delabar, S. Ueda, T. Eki, N. Shimizu, K. Weber-Matthiesen, C.B. Gilks, K. Huebner, C. Le Chalony, D. Small, N.G. Copeland, H. Ishikawa, A. Endo, P. Burfeind, M. Ohki, Y. Lahbib-Mansas, J. Deerberg, Y. Sakaki, M.T. Keating, H. Tanabe, H.D. Webb, E.Y. Cheng, Y. Wang, C.E. Carow, E.W. Jabs, J. Gellin, T. Nishikawa, A. Milatovich, M. Nagata, T. Fujiwara, S. Suwa, S. Minoshima, J.A. Phillips, T. Hashimoto, S. Wood, M. Dasouki, A.L. Hawkins, F. Claro, R. Peoples, A. Crozat, T. Taguchi, M. Banzai, S. Antonarakis, J. Gomez, P. Zweidler-McKay, T. Haaf, C. Mellink, D. Patterson, S. Knuutila, J.D. Neill

Publikováno v: Cytogenetic and Genome Research. 70:I-IV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::daec3f414df3e80fc6c1fe3cb52e055f
https://doi.org/10.1159/000134026

Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency

Autor: Piero Rinaldo, Jan A.M. Smeitink, C. Roe, Morten J. Corydon, William J. Rhead, Vibeke Winter, H.L. Levy, Margrethe Kjeldsen, A.C. Sewell, C. Riggs, Dusica Babovic-Vuksanovic, Dietrich Matern, M. Dasouki, J.J. de Jong, Niels Gregersen, Jerry Vockley

Publikováno v: Corydon, M J, Vockley, J, Rinaldo, P, Rhead, W J, Kjeldsen, M, Winter, V, Riggs, C, Babovic-Vuksanovic, D, Smeitink, J, De Jong, J, Levy, H, Clive, S A, Roe, C, Matern, D, Dasouki, M & Gregersen, N 2001, ' Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency ', Pediatr. Res., vol. 49, pp. 18-23 .
Scopus-Elsevier
Pediatric Research, 49, 1, pp. 18-23
Pediatric Research, 49, 18-23
BASE-Bielefeld Academic Search Engine

Item does not contain fulltext ABSTRACT Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is considered a rare inherited mitochondrial fatty acid oxidation disorder. Less than 10 patients have been reported, diagnosed on the basis of ethylmalonic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::097179214e4109f52c042c5a44524f8f
https://pure.au.dk/portal/da/publications/role-of-common-gene-variations-in-the-molecular-pathogenesis-of-shortchain-acylcoa-dehydrogenase-deficiency(a11db050-983f-11da-bee9-02004c4f4f50).html