AlAbdi L - Search Results

1

Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.

AlAbdi L, Desbois M, Rusnac DV, Sulaiman RA, Rosenfeld JA, Lalani S, Murdock DR, Burrage LC; Undiagnosed Diseases Network; Billie Au PY, Towner S, Wilson WG, Wong L, Brunet T, Strobl-Wildemann G, Burton JE, Hoganson G, McWalter K, Begtrup A, Zarate YA, Christensen EL, Opperman KJ, Giles AC, Helaby R, Kania A, Zheng N, Grill B, Alkuraya FS. AlAbdi L, et al. Brain. 2023 Apr 19;146(4):1373-1387. doi: 10.1093/brain/awac364. Brain. 2023. PMID: 36200388 Free PMC article.

2

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

3

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

4

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.

5

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

6

Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.

Zha C, Farah CA, Holt RJ, Ceroni F, Al-Abdi L, Thuriot F, Khan AO, Helaby R, Lévesque S, Alkuraya FS, Kraus A, Ragge NK, Sossin WS. Zha C, et al. Hum Mol Genet. 2020 Nov 4;29(18):3054-3063. doi: 10.1093/hmg/ddaa198. Hum Mol Genet. 2020. PMID: 32885237 Free PMC article.

7

Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.

Khan AO, AlAbdi L, Patel N, Helaby R, Hashem M, Abdulwahab F, AlBadr FB, Alkuraya FS. Khan AO, et al. Among authors: alabdi l. Mol Genet Genomic Med. 2021 May;9(5):e1628. doi: 10.1002/mgg3.1628. Epub 2021 May 5. Mol Genet Genomic Med. 2021. PMID: 33951325 Free PMC article.

8

Residual risk for additional recessive diseases in consanguineous couples.

AlAbdi L, Alrashseed S, Alsulaiman A, Helaby R, Imtiaz F, Alhamed M, Alkuraya FS. AlAbdi L, et al. Genet Med. 2021 Dec;23(12):2448-2454. doi: 10.1038/s41436-021-01289-5. Epub 2021 Jul 27. Genet Med. 2021. PMID: 34316023 Free article.

9

Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Hörberg J, AlAbdi L, Mayer K, Ütkür K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA; Undiagnosed Diseases Network. Shankar SP, et al. Among authors: alabdi l. Genet Med. 2022 Jul;24(7):1567-1582. doi: 10.1016/j.gim.2022.03.014. Epub 2022 Apr 28. Genet Med. 2022. PMID: 35482014 Free PMC article.

10

PMEL is mutated in oculocutaneous albinism.

AlAbdi L, Alshammari M, Helaby R, Khan AO, Alkuraya FS. AlAbdi L, et al. Hum Genet. 2023 Jan;142(1):139-144. doi: 10.1007/s00439-022-02489-y. Epub 2022 Sep 27. Hum Genet. 2023. PMID: 36166100

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

37 results

Search Page