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22 results

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Page 1
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
Anazi S, Maddirevula S, Faqeih E, Alsedairy H, Alzahrani F, Shamseldin HE, Patel N, Hashem M, Ibrahim N, Abdulwahab F, Ewida N, Alsaif HS, Al Sharif H, Alamoudi W, Kentab A, Bashiri FA, Alnaser M, AlWadei AH, Alfadhel M, Eyaid W, Hashem A, Al Asmari A, Saleh MM, AlSaman A, Alhasan KA, Alsughayir M, Al Shammari M, Mahmoud A, Al-Hassnan ZN, Al-Husain M, Osama Khalil R, Abd El Meguid N, Masri A, Ali R, Ben-Omran T, El Fishway P, Hashish A, Ercan Sencicek A, State M, Alazami AM, Salih MA, Altassan N, Arold ST, Abouelhoda M, Wakil SM, Monies D, Shaheen R, Alkuraya FS. Anazi S, et al. Among authors: al husain m. Mol Psychiatry. 2017 Apr;22(4):615-624. doi: 10.1038/mp.2016.113. Epub 2016 Jul 19. Mol Psychiatry. 2017. PMID: 27431290
Characterizing the morbid genome of ciliopathies.
Shaheen R, Szymanska K, Basu B, Patel N, Ewida N, Faqeih E, Al Hashem A, Derar N, Alsharif H, Aldahmesh MA, Alazami AM, Hashem M, Ibrahim N, Abdulwahab FM, Sonbul R, Alkuraya H, Alnemer M, Al Tala S, Al-Husain M, Morsy H, Seidahmed MZ, Meriki N, Al-Owain M, AlShahwan S, Tabarki B, Salih MA; Ciliopathy WorkingGroup; Faquih T, El-Kalioby M, Ueffing M, Boldt K, Logan CV, Parry DA, Al Tassan N, Monies D, Megarbane A, Abouelhoda M, Halees A, Johnson CA, Alkuraya FS. Shaheen R, et al. Among authors: al husain m. Genome Biol. 2016 Nov 28;17(1):242. doi: 10.1186/s13059-016-1099-5. Genome Biol. 2016. PMID: 27894351 Free PMC article.
POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.
Shaheen R, Faqeih E, Shamseldin HE, Noche RR, Sunker A, Alshammari MJ, Al-Sheddi T, Adly N, Al-Dosari MS, Megason SG, Al-Husain M, Al-Mohanna F, Alkuraya FS. Shaheen R, et al. Among authors: al husain m. Am J Hum Genet. 2012 Aug 10;91(2):330-6. doi: 10.1016/j.ajhg.2012.05.025. Epub 2012 Jul 26. Am J Hum Genet. 2012. PMID: 22840364 Free PMC article.
Deletion of short arm of chromosome 3 in a Saudi girl.
Al Husain MA, Zaki OK, Salih MA. Al Husain MA, et al. Ann Saudi Med. 1996 Jul;16(4):455-7. doi: 10.5144/0256-4947.1996.455. Ann Saudi Med. 1996. PMID: 17372514 Free article. No abstract available.
Ophthalmologic observations in a patient with partial mosaic trisomy 8.
Abu-Amero KK, Kondkar AA, Salih MA, Al-Husain M, Al Shammari M, Zeidan G, Oystreck DT, Hellani AM, Kentab AY, Bosley TM. Abu-Amero KK, et al. Among authors: al husain m. Ophthalmic Genet. 2013 Dec;34(4):249-53. doi: 10.3109/13816810.2012.762933. Epub 2013 Feb 13. Ophthalmic Genet. 2013. PMID: 23406309
Schwartz-Jampel syndrome in Saudi children.
Al-Husain MA, Al-Eissa YA, Al-Sohaibani MO, Al-Omair AO, Al-Nasser MN. Al-Husain MA, et al. Ann Saudi Med. 1994 Mar;14(2):152-6. doi: 10.5144/0256-4947.1994.152. Ann Saudi Med. 1994. PMID: 17589085 Free article. No abstract available.
22 results