Human Chromosome 7: DNA Sequence and Biology

Autor: Scherer, Stephen W., Cheung, Joseph, MacDonald, Jeffrey R., Osborne, Lucy R., Nakabayashi, Kazuhiko, Herbrick, Jo-Anne, Carson, Andrew R., Parker-Katiraee, Layla, Skaug, Jennifer, Khaja, Razi, Zhang, Junjun, Hudek, Alexander K., Li, Martin, Haddad, May, Duggan, Gavin E., Fernandez, Bridget A., Kanematsu, Emiko, Gentles, Simone, Christopoulos, Constantine C., Choufani, Sanaa, Kwasnicka, Dorota, Zheng, Xiangqun H., Lai, Zhongwu, Nusskern, Deborah, Zhang, Qing, Gu, Zhiping, Lu, Fu, Zeesman, Susan, Nowaczyk, Malgorzata J., Teshima, Ikuko, Chitayat, David, Shuman, Cheryl, Weksberg, Rosanna, Zackai, Elaine H., Grebe, Theresa A., Cox, Sarah R., Kirkpatrick, Susan J., Rahman, Nazneen, Friedman, Jan M., Pelicci, Pier Giuseppe, Lo-Coco, Francesco, Belloni, Elena, Shaffer, Lisa G., Pober, Barbara, Morton, Cynthia C., Gusella, James F., Korf, Bruce R., Quade, Bradley J., Ligon, Azra H., Ferguson, Heather, Higgins, Anne W., Leach, Natalia T., Herrick, Steven R., Lemyre, Emmanuelle, Farra, Chantal G., Kim, Hyung-Goo, Summers, Anne M., Gripp, Karen W., Roberts, Wendy, Szatmari, Peter, Grzeschik, Karl-Heinz, Teebi, Ahmed, Minassian, Berge A., Kere, Juha, Armengol, Lluis, Pujana, Miguel Angel, Estivill, Xavier, Wilson, Michael D., Koop, Ben F., Tosi, Sabrina, Moore, Gudrun E., Boright, Andrew P., Zlotorynski, Eitan, Kerem, Batsheva, Kroisel, Peter M., Petek, Erwin, Oscier, David G., Mould, Sarah J., Döhner, Hartmut, Döhner, Konstanze, Rommens, Johanna M., Vincent, John B., Venter, J. Craig, Li, Peter W., Mural, Richard J., Adams, Mark D., Tsui, Lap-Chee

Publikováno v: Science, 2003 May 01. 300(5620), 767-772.

Externí odkaz: https://www.jstor.org/stable/3834252

Genetic Diversity among the Arabs

Autor: Teebi, Ahmad S., Teebi, Saeed A.

Publikováno v: Community Genetics, 2005 Jan 01. 8(1), 21-26.

Externí odkaz: https://www.jstor.org/stable/26679441

The pattern of neural tube defects in a highly endogamous society: A 25-year incidence trends

Autor: Ahmad S. Teebi, Bader Kurdi, Hüseyin Çaksen, Georg F. Hoffmann, Abdulbari Bener

Publikováno v: Journal of Pediatric Neurology. 10:193-198

The wide variety in incidence rates of neural tube defects (NTD) in the Arabian region have been attributed to environmental, dietary and genetic factors. No previous study has been conducted in the State of Qatar to document the incidence and trends

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4afb5fc47805dc09a1b46c6a60e545ef
https://doi.org/10.3233/jpn-2012-0567

Arab genetic disease database (AGDDB): A population-specific clinical and mutation database

Autor: Ahmad S. Teebi, Christopher J. Porter, A. Jamie Cuticchia, Saeed A. Teebi

Publikováno v: Human Mutation. 19:615-621

Here we present the Arab Genetic Disease Database (AGDDB), a curated catalog of genetic disorders found in Arab populations. The first release of the database is populated primarily with information from the textbook Genetic Disorders Among Arab Popu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d790cd8c2bc33551f9a346ad1976636
https://doi.org/10.1002/humu.10082

A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome

Autor: Abdulrahman Alswaid, Namik Kaya, Issam Bouhoaigah, Tariq Momenah, Syed H.E. Zaidi, Nouriyah Al-Sanna, Fouad Al-Dayel, Mohammed Saliem, Lap-Chee Tsui, Ahmad S. Teebi, Muhammad Faiyaz-Ul-Haque

Publikováno v: Atherosclerosis. 203:466-471

Arterial tortuosity syndrome is an autosomal recessive disorder characterized by severe tortuosity of greater and systemic arteries in affected individuals. In addition, patients display connective tissue features which include hyperextensible skin,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc2962ccd4ca4688fcc3c6c58472ffa8
https://doi.org/10.1016/j.atherosclerosis.2008.07.026