Elsayed SM - Search Results

1

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

2

Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome.

Ebermann I, Elsayed SM, Abdel-Ghaffar TY, Nürnberg G, Nürnberg P, Elsobky E, Bolz HJ. Ebermann I, et al. Among authors: elsayed sm. Neurology. 2008 Jun 10;70(24):2343-4. doi: 10.1212/01.wnl.0000314731.65875.5c. Neurology. 2008. PMID: 18541889 No abstract available.

3

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.

4

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, Korenke GC, Fabretti F, Janecke AR, Ebermann I, Nürnberg G, Nürnberg P, Zentgraf H, Koerber F, Addicks K, Elsobky E, Benzing T, Schermer B, Bolz HJ. Dafinger C, et al. Among authors: elsayed sm. J Clin Invest. 2011 Jul;121(7):2662-7. doi: 10.1172/JCI43639. J Clin Invest. 2011. PMID: 21633164 Free PMC article.

5

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.

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

Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia.

Tekin M, Boğoclu G, Arican ST, Orman MN, Tastan H, Elsobky E, Elsayed S, Akar N. Tekin M, et al. Clin Genet. 2005 Jan;67(1):31-7. doi: 10.1111/j.1399-0004.2004.00334.x. Clin Genet. 2005. PMID: 15617546

8

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

9

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.

10

Ribosomal protein S19 - 631 insertion is an African-originated mutation.

Cumaoğulları Ö, Öztürk A, Akar N, Elsayed S, Elsobky E, Houcher B. Cumaoğulları Ö, et al. Turk J Haematol. 2010 Jun 5;27(2):123-4. doi: 10.5152/tjh.2010.12. Turk J Haematol. 2010. PMID: 27263456 Free article. English. No abstract available.

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