Aglan M - Search Results

1

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.

Puig-Hervás MT, Temtamy S, Aglan M, Valencia M, Martínez-Glez V, Ballesta-Martínez MJ, López-González V, Ashour AM, Amr K, Pulido V, Guillén-Navarro E, Lapunzina P, Caparrós-Martín JA, Ruiz-Perez VL. Puig-Hervás MT, et al. Among authors: aglan m. Hum Mutat. 2012 Oct;33(10):1444-9. doi: 10.1002/humu.22133. Epub 2012 Jul 5. Hum Mutat. 2012. PMID: 22689593

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

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

5

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

6

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.

7

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.

8

Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.

Valencia M, Lapunzina P, Lim D, Zannolli R, Bartholdi D, Wollnik B, Al-Ajlouni O, Eid SS, Cox H, Buoni S, Hayek J, Martinez-Frias ML, Antonio PA, Temtamy S, Aglan M, Goodship JA, Ruiz-Perez VL. Valencia M, et al. Among authors: aglan m. Hum Mutat. 2009 Dec;30(12):1667-75. doi: 10.1002/humu.21117. Hum Mutat. 2009. PMID: 19810119

9

Dyggve-Melchior-Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families.

Aglan MS, Temtamy SA, Fateen E, Ashour AM, Eldeeb K, Hosny GA. Aglan MS, et al. J Child Orthop. 2009 Dec;3(6):451-8. doi: 10.1007/s11832-009-0211-8. Epub 2009 Oct 9. J Child Orthop. 2009. PMID: 19816730 Free PMC article.

10

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

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