Elsayed SM - Search Results

1

Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis.

Abdel Ghaffar TY, Elsobky ES, Elsayed SM. Abdel Ghaffar TY, et al. Among authors: elsayed sm. Orphanet J Rare Dis. 2011 Apr 8;6:13. doi: 10.1186/1750-1172-6-13. Orphanet J Rare Dis. 2011. PMID: 21477313 Free PMC article.

2

Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.

Abdelghaffar TY, Elsayed SM, Elsobky E, Bochow B, Büttner J, Schmidt H. Abdelghaffar TY, et al. Among authors: elsayed sm. J Hum Genet. 2008;53(8):681. doi: 10.1007/s10038-008-0298-7. Epub 2008 May 16. J Hum Genet. 2008. PMID: 18483695

3

Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.

Abdel Ghaffar TY, Elsayed SM, Elnaghy S, Shadeed A, Elsobky ES, Schmidt H. Abdel Ghaffar TY, et al. Among authors: elsayed sm. BMC Pediatr. 2011 Jun 17;11:56. doi: 10.1186/1471-2431-11-56. BMC Pediatr. 2011. PMID: 21682854 Free PMC article.

4

Prominent extensor truncal dystonia in Egyptian patients with Wilson's disease.

Shalash AS, Elsayed SM, Elnaghi S, Schneider SA, Abdel Ghaffar TY. Shalash AS, et al. Among authors: elsayed sm. Mov Disord. 2014 Jan;29(1):151-3. doi: 10.1002/mds.25642. Epub 2013 Sep 3. Mov Disord. 2014. PMID: 24038543 No abstract available.

5

Factor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients.

Abdel Ghaffar TY, Elsayed SM, Sakr MA, Elsobky ES, Abdelhakam SM, Yousuf S, Eğin Y, Akar N. Abdel Ghaffar TY, et al. Among authors: elsayed sm. Turk J Haematol. 2011 Dec 5;28(4):299-305. doi: 10.5152/tjh.2011.84. Turk J Haematol. 2011. PMID: 27264587 Free article. English.

6

A case of infantile osteopetrosis: The radioclinical features with literature update.

El-Sobky TA, Elsobky E, Sadek I, Elsayed SM, Khattab MF. El-Sobky TA, et al. Among authors: elsayed sm. Bone Rep. 2015 Nov 19;4:11-16. doi: 10.1016/j.bonr.2015.11.002. eCollection 2016 Jun. Bone Rep. 2015. PMID: 28326337 Free PMC article.

7

MPI-CDG from a hepatic perspective: Report of two Egyptian cases and review of literature.

Abdel Ghaffar TY, Ng BG, Elsayed SM, El Naghi S, Helmy S, Mohammed N, El Hennawy A, Freeze HH. Abdel Ghaffar TY, et al. Among authors: elsayed sm. JIMD Rep. 2020 Sep 7;56(1):20-26. doi: 10.1002/jmd2.12159. eCollection 2020 Nov. JIMD Rep. 2020. PMID: 33204592 Free PMC article.

8

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.

Elsayed SM, Heller R, Thoenes M, Zaki MS, Swan D, Elsobky E, Zühlke C, Ebermann I, Nürnberg G, Nürnberg P, Bolz HJ. Elsayed SM, et al. Eur J Hum Genet. 2014 Feb;22(2):286-8. doi: 10.1038/ejhg.2013.150. Epub 2013 Jul 10. Eur J Hum Genet. 2014. PMID: 23838597 Free PMC article.

9

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.

Elsayed SM, Phillips JB, Heller R, Thoenes M, Elsobky E, Nürnberg G, Nürnberg P, Seland S, Ebermann I, Altmüller J, Thiele H, Toliat M, Körber F, Hu XJ, Wu YD, Zaki MS, Abdel-Salam G, Gleeson J, Boltshauser E, Westerfield M, Bolz HJ. Elsayed SM, et al. Hum Mol Genet. 2015 May 1;24(9):2594-603. doi: 10.1093/hmg/ddv022. Epub 2015 Jan 23. Hum Mol Genet. 2015. PMID: 25616960 Free PMC article.

10

Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency.

Salle-Teyssières L, Auclair M, Terro F, Nemani M, Elsayed SM, Elsobky E, Lathrop M, Délépine M, Lascols O, Capeau J, Magré J, Vigouroux C. Salle-Teyssières L, et al. Among authors: elsayed sm. J Clin Endocrinol Metab. 2016 Jul;101(7):2892-904. doi: 10.1210/jc.2016-1086. Epub 2016 May 4. J Clin Endocrinol Metab. 2016. PMID: 27144934

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