Alkuraya FS - Search Results

1

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

Yuan B, Pehlivan D, Karaca E, Patel N, Charng WL, Gambin T, Gonzaga-Jauregui C, Sutton VR, Yesil G, Bozdogan ST, Tos T, Koparir A, Koparir E, Beck CR, Gu S, Aslan H, Yuregir OO, Al Rubeaan K, Alnaqeb D, Alshammari MJ, Bayram Y, Atik MM, Aydin H, Geckinli BB, Seven M, Ulucan H, Fenercioglu E, Ozen M, Jhangiani S, Muzny DM, Boerwinkle E, Tuysuz B, Alkuraya FS, Gibbs RA, Lupski JR. Yuan B, et al. Among authors: alkuraya fs. J Clin Invest. 2015 Feb;125(2):636-51. doi: 10.1172/JCI77435. Epub 2015 Jan 9. J Clin Invest. 2015. PMID: 25574841 Free PMC article. Clinical Trial.

2

Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus.

Alshammari MJ, Al-Otaibi L, Alkuraya FS. Alshammari MJ, et al. Among authors: alkuraya fs. J Med Genet. 2012 Jul;49(7):455-61. doi: 10.1136/jmedgenet-2011-100666. Epub 2012 May 31. J Med Genet. 2012. PMID: 22652534

3

Molecular pathogenesis of fibrochondrogenesis: is it really simple COL11A1 deficiency?

Alzahrani F, Alshammari MJ, Alkuraya FS. Alzahrani F, et al. Among authors: alkuraya fs. Gene. 2012 Dec 15;511(2):480-1. doi: 10.1016/j.gene.2012.09.069. Epub 2012 Sep 28. Gene. 2012. PMID: 23026214 No abstract available.

4

Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.

Mohamed JY, Faqeih E, Alsiddiky A, Alshammari MJ, Ibrahim NA, Alkuraya FS. Mohamed JY, et al. Among authors: alkuraya fs. Am J Hum Genet. 2013 Jan 10;92(1):157-61. doi: 10.1016/j.ajhg.2012.11.016. Epub 2013 Jan 3. Am J Hum Genet. 2013. PMID: 23290072 Free PMC article.

5

Mutations in TMEM231 cause Meckel-Gruber syndrome.

Shaheen R, Ansari S, Mardawi EA, Alshammari MJ, Alkuraya FS. Shaheen R, et al. Among authors: alkuraya fs. J Med Genet. 2013 Mar;50(3):160-2. doi: 10.1136/jmedgenet-2012-101431. Epub 2013 Jan 24. J Med Genet. 2013. PMID: 23349226 Free PMC article.

6

Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.

Zahrani F, Aldahmesh MA, Alshammari MJ, Al-Hazzaa SA, Alkuraya FS. Zahrani F, et al. Among authors: alkuraya fs. Am J Hum Genet. 2013 Mar 7;92(3):387-91. doi: 10.1016/j.ajhg.2013.01.008. Epub 2013 Feb 28. Am J Hum Genet. 2013. PMID: 23453665 Free PMC article.

7

NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility.

Alazami AM, Alshammari MJ, Baig M, Salih MA, Hassan HH, Alkuraya FS. Alazami AM, et al. Among authors: alkuraya fs. Clin Genet. 2014 Apr;85(4):371-5. doi: 10.1111/cge.12160. Epub 2013 Apr 26. Clin Genet. 2014. PMID: 23574405

8

A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency.

Shaheen R, Ansari S, Alshammari MJ, Alkhalidi H, Alrukban H, Eyaid W, Alkuraya FS. Shaheen R, et al. Among authors: alkuraya fs. J Med Genet. 2013 Jul;50(7):431-6. doi: 10.1136/jmedgenet-2013-101527. Epub 2013 Apr 20. J Med Genet. 2013. PMID: 23606727

9

The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18.

Aldahmesh MA, Alshammari MJ, Khan AO, Mohamed JY, Alhabib FA, Alkuraya FS. Aldahmesh MA, et al. Among authors: alkuraya fs. Hum Mutat. 2013 Sep;34(9):1195-9. doi: 10.1002/humu.22374. Epub 2013 Jul 19. Hum Mutat. 2013. PMID: 23818446

10

Overlap between CHARGE and Kabuki syndromes: more than an interesting clinical observation?

Patel N, Alkuraya FS. Patel N, et al. Among authors: alkuraya fs. Am J Med Genet A. 2015 Jan;167A(1):259-60. doi: 10.1002/ajmg.a.36804. Epub 2014 Oct 22. Am J Med Genet A. 2015. PMID: 25338707 No abstract available.

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