Al-Dosari M - Search Results

1

Study of consanguineous populations can improve the annotation of SNP databases.

Shamseldin HE, Al-Dosari M, Al-Jbali L, Rahbeeni Z, Qari A, Hashem M, Alkuraya FS. Shamseldin HE, et al. Eur J Med Genet. 2011 Mar-Apr;54(2):118-20. doi: 10.1016/j.ejmg.2010.10.009. Epub 2010 Oct 28. Eur J Med Genet. 2011. PMID: 21035572

2

Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement.

Al-Dosari MS, Al-Muhsen S, Al-Jazaeri A, Mayerle J, Zenker M, Alkuraya FS. Al-Dosari MS, et al. Am J Med Genet A. 2008 Jul 15;146A(14):1875-9. doi: 10.1002/ajmg.a.32401. Am J Med Genet A. 2008. PMID: 18553553

3

A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations.

Al-Dosari M, Alkuraya FS. Al-Dosari M, et al. Am J Med Genet A. 2009 Oct;149A(10):2093-8. doi: 10.1002/ajmg.a.32996. Am J Med Genet A. 2009. PMID: 19681135

4

Trichorhinophalangeal syndrome: Report of a novel familial TRPS1 mutation.

Al-Dosari MS, Alkuraya FS. Al-Dosari MS, et al. Clin Dysmorphol. 2010 Apr;19(2):98-100. doi: 10.1097/MCD.0b013e3283379ae6. Clin Dysmorphol. 2010. PMID: 20177376 No abstract available.

5

Novel CENPJ mutation causes Seckel syndrome.

Al-Dosari MS, Shaheen R, Colak D, Alkuraya FS. Al-Dosari MS, et al. J Med Genet. 2010 Jun;47(6):411-4. doi: 10.1136/jmg.2009.076646. J Med Genet. 2010. PMID: 20522431

6

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected].

Alkuraya FS, Cai X, Emery C, Mochida GH, Al-Dosari MS, Felie JM, Hill RS, Barry BJ, Partlow JN, Gascon GG, Kentab A, Jan M, Shaheen R, Feng Y, Walsh CA. Alkuraya FS, et al. Am J Hum Genet. 2011 May 13;88(5):536-47. doi: 10.1016/j.ajhg.2011.04.003. Epub 2011 Apr 28. Am J Hum Genet. 2011. PMID: 21529751 Free PMC article.

7

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity.

Khalak HG, Wakil SM, Imtiaz F, Ramzan K, Baz B, Almostafa A, Hagos S, Alzahrani F, Abu-Dhaim N, Abu Safieh L, Al-Jbali L, Al-Hamed MS, Monies D, Aldahmesh M, Al-Dosari MS, Kaya N, Shamseldin H, Shaheen R, Al-Rashed M, Hashem M, Al-Tassan N, Meyer B, Alazami AM, Alkuraya FS. Khalak HG, et al. Genet Med. 2012 May;14(5):515-9. doi: 10.1038/gim.2011.28. Epub 2012 Jan 5. Genet Med. 2012. PMID: 22241088 Free article.

8

3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature.

Al-Dosari MS, Al-Shammari M, Shaheen R, Faqeih E, Alghofely MA, Boukai A, Alkuraya FS. Al-Dosari MS, et al. J Pediatr. 2012 Jul;161(1):139-45.e1. doi: 10.1016/j.jpeds.2011.12.051. Epub 2012 Feb 9. J Pediatr. 2012. PMID: 22325252

9

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. 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.

10

Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype.

Al-Owain M, Al-Dosari MS, Sunker A, Shuaib T, Alkuraya FS. Al-Owain M, et al. Gene. 2012 Dec 15;511(2):447-50. doi: 10.1016/j.gene.2012.09.022. Epub 2012 Sep 23. Gene. 2012. PMID: 23010198

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