Girgis M - Search Results

1

The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.

Elkhateeb N, Issa MY, Elbendary HM, Elnaggar W, Ramadan A, Rafat K, Kamel M, Abdel-Ghafar SF, Amer F, Hassaan HM, Trunzo R, Pereira C, Abdel-Hamid MS, D'Arco F, Bauer P, Bertoli-Avella AM, Girgis M, Gleeson JG, Zaki MS, Selim L. Elkhateeb N, et al. Among authors: girgis m. Clin Genet. 2024 May;105(5):510-522. doi: 10.1111/cge.14481. Epub 2024 Jan 14. Clin Genet. 2024. PMID: 38221827

2

Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations.

Mahmoud IG, Elmonem MA, Elkhateeb NM, Elnaggar W, Sobhi A, Girgis MY, Kamel M, Shaheen Y, Samaha M, Ramadan A, Zaki MS, El-Hawary B, Hassan SA, Khalifa IA, Mossad F, Al-Menabawy NM, Zielke S, Gleeson JG, Rolfs A, Selim LA. Mahmoud IG, et al. Among authors: girgis my. Clin Genet. 2019 Apr;95(4):537-539. doi: 10.1111/cge.13492. Epub 2019 Jan 11. Clin Genet. 2019. PMID: 30633340 Review. No abstract available.

3

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: girgis m. 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

4

Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.

Abdel-Hamid MS, Issa MY, Elbendary HM, Abdel-Ghafar SF, Rafaat K, Hosny H, Girgis M, Abdel-Salam GMH, Zaki MS. Abdel-Hamid MS, et al. Among authors: girgis m. J Hum Genet. 2019 Sep;64(9):859-865. doi: 10.1038/s10038-019-0637-x. Epub 2019 Jul 5. J Hum Genet. 2019. PMID: 31273323

5

A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia.

Abdel-Salam GMH, Girgis M, Eid MM, Sayed ISM, Abdel-Hamid MS. Abdel-Salam GMH, et al. Among authors: girgis m. J Hum Genet. 2022 Nov;67(11):669-673. doi: 10.1038/s10038-022-01060-x. Epub 2022 Jul 27. J Hum Genet. 2022. PMID: 35896821 Free PMC article.

6

Selective screening for inborn errors of metabolism by tandem mass spectrometry in Egyptian children: a 5 year report.

Selim LA, Hassan SA, Salem F, Orabi A, Hassan FA, El-Mougy F, Mahmoud IG, El-Badawy A, Girgis MY, Elmonem MA, Mehaney D. Selim LA, et al. Clin Biochem. 2014 Jun;47(9):823-8. doi: 10.1016/j.clinbiochem.2014.04.002. Epub 2014 Apr 13. Clin Biochem. 2014. PMID: 24731791

7

Implementation of ketogenic diet in children with drug-resistant epilepsy in a medium resources setting: Egyptian experience.

Gerges M, Selim L, Girgis M, El Ghannam A, Abdelghaffar H, El-Ayadi A. Gerges M, et al. Among authors: girgis m. Epilepsy Behav Case Rep. 2018 Nov 23;11:35-38. doi: 10.1016/j.ebcr.2018.11.001. eCollection 2019. Epilepsy Behav Case Rep. 2018. PMID: 30619711 Free PMC article.

8

Initial levetiracetam versus valproate monotherapy in antiseizure medicine (ASM)-naïve pediatric patients with idiopathic generalized epilepsy with tonic-clonic seizures.

Abdelmesih SK, Elkhateeb N, Zakaria M, Girgis MY. Abdelmesih SK, et al. Among authors: girgis my. Seizure. 2021 Oct;91:263-270. doi: 10.1016/j.seizure.2021.06.033. Epub 2021 Jul 3. Seizure. 2021. PMID: 34246881 Free article.

9

Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients.

Mahmoud IG, Mahmoud M, Refaat M, Girgis M, Waked N, El Badawy A, Selim L, Hassan S, Abdel Aleem AK. Mahmoud IG, et al. Among authors: girgis m. Pediatr Neurol. 2014 Feb;50(2):140-8. doi: 10.1016/j.pediatrneurol.2013.10.008. Epub 2013 Oct 24. Pediatr Neurol. 2014. PMID: 24315536

10

Lysosomal Storage Disorders in Egyptian Children.

Elmonem MA, Mahmoud IG, Mehaney DA, Sharaf SA, Hassan SA, Orabi A, Salem F, Girgis MY, El-Badawy A, Abdelwahab M, Salah Z, Soliman NA, Hassan FA, Selim LA. Elmonem MA, et al. Among authors: girgis my. Indian J Pediatr. 2016 Aug;83(8):805-13. doi: 10.1007/s12098-015-2014-x. Epub 2016 Feb 2. Indian J Pediatr. 2016. PMID: 26830282

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