Aglan M - Search Results

1

Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective.

Gagliardi A, Besio R, Carnemolla C, Landi C, Armini A, Aglan M, Otaify G, Temtamy SA, Forlino A, Bini L, Bianchi L. Gagliardi A, et al. Among authors: aglan m. J Proteomics. 2017 Sep 7;167:46-59. doi: 10.1016/j.jprot.2017.08.007. Epub 2017 Aug 9. J Proteomics. 2017. PMID: 28802583 Free PMC article.

2

Expanding the phenotypic spectrum of the Baller-Gerold syndrome.

Temtamy SA, Aglan MS, Nemat A, Eid M. Temtamy SA, et al. Among authors: aglan ms. Genet Couns. 2003;14(3):299-312. Genet Couns. 2003. PMID: 14577674 Review.

3

3-M syndrome: a report of three Egyptian cases with review of the literature.

Temtamy SA, Aglan MS, Ashour AM, Ramzy MI, Hosny LA, Mostafa MI. Temtamy SA, et al. Among authors: aglan ms. Clin Dysmorphol. 2006 Apr;15(2):55-64. doi: 10.1097/01.mcd.0000198926.01706.33. Clin Dysmorphol. 2006. PMID: 16531729 Review.

4

Phenotypic and cytogenetic spectrum of 9p trisomy.

Temtamy SA, Kamel AK, Ismail S, Helmy NA, Aglan MS, El Gammal M, El Ruby M, Mohamed AM. Temtamy SA, et al. Among authors: aglan ms. Genet Couns. 2007;18(1):29-48. Genet Couns. 2007. PMID: 17515299

5

Adams-Oliver syndrome: further evidence of an autosomal recessive variant.

Temtamy SA, Aglan MS, Ashour AM, Zaki MS. Temtamy SA, et al. Among authors: aglan ms. Clin Dysmorphol. 2007 Jul;16(3):141-149. doi: 10.1097/MCD.0b013e3280f9df22. Clin Dysmorphol. 2007. PMID: 17551326

6

Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.

Temtamy SA, Aglan MS, Valencia M, Cocchi G, Pacheco M, Ashour AM, Amr KS, Helmy SM, El-Gammal MA, Wright M, Lapunzina P, Goodship JA, Ruiz-Perez VL. Temtamy SA, et al. Among authors: aglan ms. Hum Mutat. 2008 Jul;29(7):931-8. doi: 10.1002/humu.20778. Hum Mutat. 2008. PMID: 18454448

7

Brachydactyly.

Temtamy SA, Aglan MS. Temtamy SA, et al. Orphanet J Rare Dis. 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. Orphanet J Rare Dis. 2008. PMID: 18554391 Free PMC article. Review.

8

The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.

Hanson D, Murray PG, Sud A, Temtamy SA, Aglan M, Superti-Furga A, Holder SE, Urquhart J, Hilton E, Manson FD, Scambler P, Black GC, Clayton PE. Hanson D, et al. Among authors: aglan m. Am J Hum Genet. 2009 Jun;84(6):801-6. doi: 10.1016/j.ajhg.2009.04.021. Epub 2009 May 28. Am J Hum Genet. 2009. PMID: 19481195 Free PMC article.

9

Limb malformations with associated congenital constriction rings in two unrelated Egyptian males, one with a disorganization-like spectrum and the other with a probable distinct type of septo-optic dysplasia.

Temtamy SA, Aglan MS, Ashour AM, El-Badry TH. Temtamy SA, et al. Among authors: aglan ms. Clin Dysmorphol. 2010 Jan;19(1):14-22. doi: 10.1097/MCD.0b013e3283337d92. Clin Dysmorphol. 2010. PMID: 19940763

10

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.

Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nürnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nürnberg P, Herz J, Temtamy SA, Wollnik B. Li Y, et al. Among authors: aglan m. Am J Hum Genet. 2010 May 14;86(5):696-706. doi: 10.1016/j.ajhg.2010.03.004. Epub 2010 Apr 8. Am J Hum Genet. 2010. PMID: 20381006 Free PMC article.

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