AlAbdi L - Search Results

1

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L, Maddirevula S, Shamseldin HE, Khouj E, Helaby R, Hamid H, Almulhim A, Hashem MO, Abdulwahab F, Abouyousef O, Alqahtani M, Altuwaijri N, Jaafar A, Alshidi T, Alzahrani F; Mendeliome Group; Alkuraya FS. AlAbdi L, et al. Nat Commun. 2023 Aug 29;14(1):5269. doi: 10.1038/s41467-023-40909-3. Nat Commun. 2023. PMID: 37644014 Free PMC article.

2

The acute myeloid leukemia variant DNMT3A Arg882His is a DNMT3B-like enzyme.

Norvil AB, AlAbdi L, Liu B, Tu YH, Forstoffer NE, Michie AR, Chen T, Gowher H. Norvil AB, et al. Among authors: alabdi l. Nucleic Acids Res. 2020 Apr 17;48(7):3761-3775. doi: 10.1093/nar/gkaa139. Nucleic Acids Res. 2020. PMID: 32123902 Free PMC article.

3

Oct4-Mediated Inhibition of Lsd1 Activity Promotes the Active and Primed State of Pluripotency Enhancers.

AlAbdi L, Saha D, He M, Dar MS, Utturkar SM, Sudyanti PA, McCune S, Spears BH, Breedlove JA, Lanman NA, Gowher H. AlAbdi L, et al. Cell Rep. 2020 Feb 4;30(5):1478-1490.e6. doi: 10.1016/j.celrep.2019.11.040. Cell Rep. 2020. PMID: 32023463 Free PMC article.

4

An epigenetic switch regulates de novo DNA methylation at a subset of pluripotency gene enhancers during embryonic stem cell differentiation.

Petell CJ, Alabdi L, He M, San Miguel P, Rose R, Gowher H. Petell CJ, et al. Among authors: alabdi l. Nucleic Acids Res. 2016 Sep 19;44(16):7605-17. doi: 10.1093/nar/gkw426. Epub 2016 May 13. Nucleic Acids Res. 2016. PMID: 27179026 Free PMC article.

5

Molecular characterization of newborn glaucoma including a distinct aniridic phenotype.

Khan AO, Aldahmesh MA, Al-Abdi L, Mohamed JY, Hashem M, Al-Ghamdi I, Alkuraya FS. Khan AO, et al. Ophthalmic Genet. 2011 Sep;32(3):138-42. doi: 10.3109/13816810.2010.544365. Epub 2011 Feb 9. Ophthalmic Genet. 2011. PMID: 21306220

6

Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.

Khan AO, Al-Abdi L, Mohamed JY, Aldahmesh MA, Alkuraya FS. Khan AO, et al. J AAPOS. 2011 Apr;15(2):198-9. doi: 10.1016/j.jaapos.2011.01.156. J AAPOS. 2011. PMID: 21596299

7

Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms.

Abu-Safieh L, Abboud EB, Alkuraya H, Shamseldin H, Al-Enzi S, Al-Abdi L, Hashem M, Colak D, Jarallah A, Ahmad H, Bobis S, Nemer G, Bitar F, Alkuraya FS. Abu-Safieh L, et al. Am J Hum Genet. 2011 Aug 12;89(2):313-9. doi: 10.1016/j.ajhg.2011.07.010. Am J Hum Genet. 2011. PMID: 21835307 Free PMC article.

8

In search of triallelism in Bardet-Biedl syndrome.

Abu-Safieh L, Al-Anazi S, Al-Abdi L, Hashem M, Alkuraya H, Alamr M, Sirelkhatim MO, Al-Hassnan Z, Alkuraya B, Mohamed JY, Al-Salem A, Alrashed M, Faqeih E, Softah A, Al-Hashem A, Wali S, Rahbeeni Z, Alsayed M, Khan AO, Al-Gazali L, Taschner PE, Al-Hazzaa S, Alkuraya FS. Abu-Safieh L, et al. Eur J Hum Genet. 2012 Apr;20(4):420-7. doi: 10.1038/ejhg.2011.205. Epub 2012 Feb 22. Eur J Hum Genet. 2012. PMID: 22353939 Free PMC article.

9

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.

Abu-Safieh L, Alrashed M, Anazi S, Alkuraya H, Khan AO, Al-Owain M, Al-Zahrani J, Al-Abdi L, Hashem M, Al-Tarimi S, Sebai MA, Shamia A, Ray-Zack MD, Nassan M, Al-Hassnan ZN, Rahbeeni Z, Waheeb S, Alkharashi A, Abboud E, Al-Hazzaa SA, Alkuraya FS. Abu-Safieh L, et al. Genome Res. 2013 Feb;23(2):236-47. doi: 10.1101/gr.144105.112. Epub 2012 Oct 26. Genome Res. 2013. PMID: 23105016 Free PMC article.

10

CNP deficiency causes severe hypomyelinating leukodystrophy in humans.

Al-Abdi L, Al Murshedi F, Elmanzalawy A, Al Habsi A, Helaby R, Ganesh A, Ibrahim N, Patel N, Alkuraya FS. Al-Abdi L, et al. Hum Genet. 2020 May;139(5):615-622. doi: 10.1007/s00439-020-02144-4. Epub 2020 Mar 3. Hum Genet. 2020. PMID: 32128616

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