Shamseldin H - Search Results

1

Molecular autopsy by proxy in preconception counseling.

Ali Alghamdi M, Alrasheedi A, Alghamdi E, Adly N, AlAali WY, Alhashem A, Alshahrani A, Shamseldin H, Alkuraya FS, Alfadhel M. Ali Alghamdi M, et al. Among authors: shamseldin h. Clin Genet. 2021 Dec;100(6):678-691. doi: 10.1111/cge.14049. Epub 2021 Aug 30. Clin Genet. 2021. PMID: 34406647 Free PMC article.

2

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. Among authors: shamseldin h. 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

3

Molecular characterization of retinitis pigmentosa in Saudi Arabia.

Aldahmesh MA, Safieh LA, Alkuraya H, Al-Rajhi A, Shamseldin H, Hashem M, Alzahrani F, Khan AO, Alqahtani F, Rahbeeni Z, Alowain M, Khalak H, Al-Hazzaa S, Meyer BF, Alkuraya FS. Aldahmesh MA, et al. Among authors: shamseldin h. Mol Vis. 2009 Nov 24;15:2464-9. Mol Vis. 2009. PMID: 19956407 Free PMC article.

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. Among authors: shamseldin h. 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. Among authors: shamseldin h. 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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