Temtamy SA - Search Results

1

Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype.

Abdel-Salam GM, Flores-Sarnat L, El-Ruby MO, Parboosingh J, Bridge P, Eid MM, El-Badry TH, Effat L, Curatolo P, Temtamy SA. Abdel-Salam GM, et al. Among authors: temtamy sa. Am J Med Genet A. 2011 Jan;155A(1):207-14. doi: 10.1002/ajmg.a.33777. Am J Med Genet A. 2011. PMID: 21204234

2

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

3

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

4

GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.

Abdel-Hamid MS, Ismail S, Zaki MS, Abdel-Salam GMH, Otaify GA, Issa MY, Abdel-Kader M, Girgis M, Aboul-Ezz E, Mazen I, Aglan MS, Temtamy SA. Abdel-Hamid MS, et al. Among authors: temtamy sa. Am J Med Genet A. 2019 Feb;179(2):237-242. doi: 10.1002/ajmg.a.61021. Epub 2018 Dec 21. Am J Med Genet A. 2019. PMID: 30575274

5

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.

Abdel-Salam GMH, Sayed ISM, Afifi HH, Abdel-Ghafar SF, Abouzaid MR, Ismail SI, Aglan MS, Issa MY, El-Bassyouni HT, El-Kamah G, Effat LK, Eid M, Zaki MS, Temtamy SA, Abdel-Hamid MS. Abdel-Salam GMH, et al. Among authors: temtamy sa. Am J Med Genet A. 2020 Jun;182(6):1407-1420. doi: 10.1002/ajmg.a.61585. Epub 2020 Apr 8. Am J Med Genet A. 2020. PMID: 32267100

6

Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.

Temtamy SA, Männikkö M, Abdel-Salam GM, Hassan NA, Ala-Kokko L, Afifi HH. Temtamy SA, et al. Am J Med Genet A. 2006 Jun 1;140(11):1189-95. doi: 10.1002/ajmg.a.31205. Am J Med Genet A. 2006. PMID: 16637051

7

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.

8

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. Clin Dysmorphol. 2010 Jan;19(1):14-22. doi: 10.1097/MCD.0b013e3283337d92. Clin Dysmorphol. 2010. PMID: 19940763

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

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

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