Aglan MS - Search Results

1

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

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

Assessment of pubertal development in Egyptian girls.

Hosny LA, El-Ruby MO, Zaki ME, Aglan MS, Zaki MS, El Gammal MA, Mazen IM. Hosny LA, et al. Among authors: aglan ms. J Pediatr Endocrinol Metab. 2005 Jun;18(6):577-84. doi: 10.1515/jpem.2005.18.6.577. J Pediatr Endocrinol Metab. 2005. PMID: 16042325

4

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.

5

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

6

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

7

Brachydactyly.

Temtamy SA, Aglan MS. Temtamy SA, et al. Among authors: aglan ms. 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. 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

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. Hum Mutat. 2009 Dec;30(12):1667-75. doi: 10.1002/humu.21117. Hum Mutat. 2009. PMID: 19810119

10

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.

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