Temtamy SA - Search Results

1

Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect.

Abdel-Salam GM, Abdel-Hamid MS, Ismail SI, Hosny H, Omar T, Effat L, Aglan MS, Temtamy SA, Zaki MS. Abdel-Salam GM, et al. Among authors: temtamy sa. Metab Brain Dis. 2016 Oct;31(5):1171-9. doi: 10.1007/s11011-016-9861-7. Epub 2016 Jul 7. Metab Brain Dis. 2016. PMID: 27389245

2

Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect.

Otaify GA, Abdel-Hamid MS, Mehrez MI, Aboul-Ezz E, Zaki MS, Aglan MS, Temtamy SA. Otaify GA, et al. Among authors: temtamy sa. Osteoporos Int. 2018 Aug;29(8):1833-1841. doi: 10.1007/s00198-018-4555-0. Epub 2018 May 23. Osteoporos Int. 2018. PMID: 29796728

3

Expanding the phenome and variome of skeletal dysplasia.

Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F, Shamseldin HE, Anazi S, Ewida N, Alsaif HS, Mohamed JY, Alazami AM, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Monies D, Al Tassan N, Alshammari M, Alsagheir A, Seidahmed MZ, Sogati S, Aglan MS, Hamad MH, Salih MA, Hamed AA, Alhashmi N, Nabil A, Alfadli F, Abdel-Salam GMH, Alkuraya H, Peitee WO, Keng WT, Qasem A, Mushiba AM, Zaki MS, Fassad MR, Alfadhel M, Alexander S, Sabr Y, Temtamy S, Ekbote AV, Ismail S, Hosny GA, Otaify GA, Amr K, Al Tala S, Khan AO, Rizk T, Alaqeel A, Alsiddiky A, Singh A, Kapoor S, Alhashem A, Faqeih E, Shaheen R, Alkuraya FS. Maddirevula S, et al. Genet Med. 2018 Dec;20(12):1609-1616. doi: 10.1038/gim.2018.50. Epub 2018 Apr 5. Genet Med. 2018. PMID: 29620724 Free article.

4

Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.

Zaki MS, Otaify GA, Ismail S, Issa MY, El-Ruby MO, Sadek AA, Ashaat EA, El Saeidi SA, Aglan MS, Temtamy S, Abdel-Hamid MS. Zaki MS, et al. Among authors: temtamy s. Am J Med Genet A. 2020 Dec;182(12):2857-2866. doi: 10.1002/ajmg.a.61857. Epub 2020 Sep 19. Am J Med Genet A. 2020. PMID: 32949109

5

First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations.

Thomas MM, Ashaat EA, Otaify GA, Ismail S, Essawi ML, Abdel-Hamid MS, Hassan HA, Alsaiedi SA, Aglan M, El Ruby MO, Temtamy S. Thomas MM, et al. Among authors: temtamy s. Mol Syndromol. 2021 Aug;12(5):279-288. doi: 10.1159/000516607. Epub 2021 Jul 22. Mol Syndromol. 2021. PMID: 34602954 Free PMC article.

6

Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.

Mohamed AM, Kamel AK, Eid MM, Eid OM, Mekkawy M, Hussein SH, Zaki MS, Esmail S, Afifi HH, El-Kamah GY, Otaify GA, El-Awady HA, Elaidy A, Essa MY, El-Ruby M, Ashaat EA, Hammad SA, Mazen I, Abdel-Salam GMH, Aglan M, Temtamy S. Mohamed AM, et al. Among authors: temtamy s. Mol Genet Genomic Med. 2021 Nov;9(11):e1829. doi: 10.1002/mgg3.1829. Epub 2021 Oct 5. Mol Genet Genomic Med. 2021. PMID: 34609792 Free PMC article.

7

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

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

8

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.

9

Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.

Aglan M, Amr K, Ismail S, Ashour A, Otaify GA, Mehrez MA, Aboul-Ezz EH, El-Ruby M, Mazen I, Abdel-Hamid MS, Temtamy SA. Aglan M, et al. Among authors: temtamy sa. Am J Med Genet A. 2015 Dec;167A(12):3054-61. doi: 10.1002/ajmg.a.37287. Epub 2015 Aug 18. Am J Med Genet A. 2015. PMID: 26284319

10

Phenotypic and molecular insights into PQBP1-related intellectual disability.

Abdel-Salam GMH, Miyake N, Abdel-Hamid MS, Sayed ISM, Gadelhak MI, Ismail SI, Aglan MS, Afifi HH, Temtamy SA, Matsumoto N. Abdel-Salam GMH, et al. Among authors: temtamy sa. Am J Med Genet A. 2018 Nov;176(11):2446-2450. doi: 10.1002/ajmg.a.40479. Epub 2018 Sep 23. Am J Med Genet A. 2018. PMID: 30244542

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

135 results

Search Page

Filters