Abu-Libdeh A - Search Results

1

Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.

Rips J, Halstuk O, Fuchs A, Lang Z, Sido T, Gershon-Naamat S, Abu-Libdeh B, Edvardson S, Salah S, Breuer O, Hadhud M, Eden S, Simon I, Slae M, Damseh NS, Abu-Libdeh A, Eskin-Schwartz M, Birk OS, Varga J, Schueler-Furman O, Rosenbluh C, Elpeleg O, Yanovsky-Dagan S, Mor-Shaked H, Harel T. Rips J, et al. Among authors: abu libdeh a. Genet Med. 2024 Apr;26(4):101068. doi: 10.1016/j.gim.2024.101068. Epub 2024 Jan 6. Genet Med. 2024. PMID: 38193396

2

Aldosterone synthase (CYP11B2) deficiency among Palestinian infants: Three novel variants and genetic heterogeneity.

Faingelernt Y, Hershkovitz E, Abu-Libdeh B, Abedrabbo A, Abu-Rmaileh Amro S, Zarivach R, Zangen D, Lavi E, Haim A, Parvari R, Abu-Libdeh A. Faingelernt Y, et al. Am J Med Genet A. 2021 Apr;185(4):1033-1038. doi: 10.1002/ajmg.a.62056. Epub 2021 Jan 13. Am J Med Genet A. 2021. PMID: 33438832

3

RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1.

Abu-Libdeh B, Jhujh SS, Dhar S, Sommers JA, Datta A, Longo GM, Grange LJ, Reynolds JJ, Cooke SL, McNee GS, Hollingworth R, Woodward BL, Ganesh AN, Smerdon SJ, Nicolae CM, Durlacher-Betzer K, Molho-Pessach V, Abu-Libdeh A, Meiner V, Moldovan GL, Roukos V, Harel T, Brosh RM Jr, Stewart GS. Abu-Libdeh B, et al. J Clin Invest. 2022 Mar 1;132(5):e147301. doi: 10.1172/JCI147301. J Clin Invest. 2022. PMID: 35025765 Free PMC article.

4

Propionic acidemia mimicking diabetic ketoacidosis.

Dweikat IM, Naser EN, Abu Libdeh AI, Naser OJ, Abu Gharbieh NN, Maraqa NF, Abu Libdeh BY. Dweikat IM, et al. Brain Dev. 2011 May;33(5):428-31. doi: 10.1016/j.braindev.2010.06.016. Epub 2010 Jul 14. Brain Dev. 2011. PMID: 20634010

5

Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.

Weinberg-Shukron A, Abu-Libdeh A, Zhadeh F, Carmel L, Kogot-Levin A, Kamal L, Kanaan M, Zeligson S, Renbaum P, Levy-Lahad E, Zangen D. Weinberg-Shukron A, et al. J Med Genet. 2015 Sep;52(9):636-41. doi: 10.1136/jmedgenet-2015-103078. Epub 2015 Jun 12. J Med Genet. 2015. PMID: 26070314

6

XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription.

Zangen D, Kaufman Y, Zeligson S, Perlberg S, Fridman H, Kanaan M, Abdulhadi-Atwan M, Abu Libdeh A, Gussow A, Kisslov I, Carmel L, Renbaum P, Levy-Lahad E. Zangen D, et al. Am J Hum Genet. 2011 Oct 7;89(4):572-9. doi: 10.1016/j.ajhg.2011.09.006. Epub 2011 Sep 29. Am J Hum Genet. 2011. PMID: 21963259 Free PMC article.

7

The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD.

Levy-Khademi F, Zeligson S, Lavi E, Klopstock T, Chertin B, Avnon-Ziv C, Abulibdeh A, Renbaum P, Rosen T, Perlberg-Bengio S, Zahdeh F, Behar DM, Levy-Lahad E, Zangen D, Segel R. Levy-Khademi F, et al. Endocrine. 2020 Sep;69(3):650-654. doi: 10.1007/s12020-020-02327-z. Epub 2020 May 5. Endocrine. 2020. PMID: 32372306

8

RETRACTED: Generalized verrucosis and abnormal T cell activation due to homozygous TAOK2 mutation.

Molho-Pessach V, Ramot Y, Mogilevsky M, Cohen-Daniel L, Eisenstein EM, Abu-Libdeh A, Siam I, Berger M, Karni R, Zlotogorski A. Molho-Pessach V, et al. J Dermatol Sci. 2017 Aug;87(2):123-129. doi: 10.1016/j.jdermsci.2017.03.018. Epub 2017 Mar 27. J Dermatol Sci. 2017. PMID: 28385331 Retracted.

9

NKX2-2 Mutation Causes Congenital Diabetes and Infantile Obesity With Paradoxical Glucose-Induced Ghrelin Secretion.

Auerbach A, Cohen A, Ofek Shlomai N, Weinberg-Shukron A, Gulsuner S, King MC, Hemi R, Levy-Lahad E, Abulibdeh A, Zangen D. Auerbach A, et al. J Clin Endocrinol Metab. 2020 Nov 1;105(11):dgaa563. doi: 10.1210/clinem/dgaa563. J Clin Endocrinol Metab. 2020. PMID: 32818257

10

Retraction Notice to "Generalized verrucosis and abnormal T cell activation due to homozygous TAOK2 mutation".

Molho-Pessach V, Ramot Y, Mogilevsky M, Cohen-Daniel L, Eisenstein EM, Abu-Libdeh A, Siam I, Berger M, Karni R, Zlotogorski A. Molho-Pessach V, et al. Among authors: abu libdeh a. J Dermatol Sci. 2022 Nov;108(2):116. doi: 10.1016/j.jdermsci.2022.12.004. J Dermatol Sci. 2022. PMID: 36739155 No abstract available.

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