Shamseldin HE - Search Results

1

SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.

Fasham J, Huebner AK, Liebmann L, Khalaf-Nazzal R, Maroofian R, Kryeziu N, Wortmann SB, Leslie JS, Ubeyratna N, Mancini GMS, van Slegtenhorst M, Wilke M, Haack TB, Shamseldin HE, Gleeson JG, Almuhaizea M, Dweikat I, Abu-Libdeh B, Daana M, Zaki MS, Wakeling MN, McGavin L, Turnpenny PD, Alkuraya FS, Houlden H, Schlattmann P, Kaila K, Crosby AH, Baple EL, Hübner CA. Fasham J, et al. Among authors: shamseldin he. Brain. 2023 Nov 2;146(11):4547-4561. doi: 10.1093/brain/awad235. Brain. 2023. PMID: 37459438 Free PMC article.

2

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Saudi Mendeliome Group. Saudi Mendeliome Group. Genome Biol. 2015 Jun 26;16(1):134. doi: 10.1186/s13059-015-0693-2. Genome Biol. 2015. PMID: 26112015 Free PMC article.

3

Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.

Abu Safieh L, Aldahmesh MA, Shamseldin H, Hashem M, Shaheen R, Alkuraya H, Al Hazzaa SA, Al-Rajhi A, Alkuraya FS. Abu Safieh L, et al. J Med Genet. 2010 Apr;47(4):236-41. doi: 10.1136/jmg.2009.070755. Epub 2009 Oct 26. J Med Genet. 2010. PMID: 19858128

4

Perturbation of the consensus activation site of endothelin-3 leads to Waardenburg syndrome type IV.

Shamseldin HE, Rahbeeni Z, Alkuraya FS. Shamseldin HE, et al. Am J Med Genet A. 2010 Jul;152A(7):1841-3. doi: 10.1002/ajmg.a.33123. Am J Med Genet A. 2010. PMID: 20583152 No abstract available.

5

Dorsal dimelia: report of two cases with an emphasis on the variation of phenotypic expression and a search for candidate causative genes.

Al-Qattan MM, Almazyad M, Shamseldin H, Alkuraya FS. Al-Qattan MM, et al. J Hand Surg Eur Vol. 2010 Nov;35(9):715-20. doi: 10.1177/1753193410378954. Epub 2010 Jul 21. J Hand Surg Eur Vol. 2010. PMID: 20659967

6

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

7

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.

Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE, Adly N, Hashem M, Alkuraya FS. Shaheen R, et al. Among authors: shamseldin he. Am J Hum Genet. 2011 Aug 12;89(2):328-33. doi: 10.1016/j.ajhg.2011.07.009. Epub 2011 Aug 4. Am J Hum Genet. 2011. PMID: 21820096 Free PMC article.

8

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.

9

Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation.

Shamseldin HE, Faden MA, Alashram W, Alkuraya FS. Shamseldin HE, et al. J Med Genet. 2012 Jan;49(1):16-20. doi: 10.1136/jmedgenet-2011-100556. Epub 2011 Nov 25. J Med Genet. 2012. PMID: 22121204

10

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation.

Shamseldin HE, Elfaki M, Alkuraya FS. Shamseldin HE, et al. J Med Genet. 2012 Mar;49(3):184-6. doi: 10.1136/jmedgenet-2011-100585. Epub 2012 Jan 9. J Med Genet. 2012. PMID: 22232082

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