Mazen I - Search Results

1

Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia.

Abdel-Salam GMH, Mazen I, Eid M, Ewida N, Shaheen R, Alkuraya FS. Abdel-Salam GMH, et al. Among authors: mazen i. Am J Med Genet A. 2019 Jun;179(6):1053-1057. doi: 10.1002/ajmg.a.61133. Epub 2019 Mar 26. Am J Med Genet A. 2019. PMID: 30912300

2

A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient.

Mazen I, El-Gammal M, Abdel-Hamid M, Amr K. Mazen I, et al. Mol Genet Metab. 2009 Aug;97(4):305-8. doi: 10.1016/j.ymgme.2009.04.002. Epub 2009 Apr 9. Mol Genet Metab. 2009. PMID: 19427251

3

The most encountered groups of genetic disorders in Giza Governorate, Egypt.

Afifi HH, El-Ruby MO, El-Bassyouni HT, Ismail SI, Aglan MS, El-Harouni AA, Mazen IM, Zaki MS, Bassiouni RI, Hosny LA, El-Kamah GY, El-Kotoury AI, Ashour AM, Abdel-Salam GM, El-Gammal MA, Hamed K, Kamal RM, El-Nekhely I, Temtamy SA. Afifi HH, et al. Among authors: mazen im. Bratisl Lek Listy. 2010;111(2):62-9. Bratisl Lek Listy. 2010. PMID: 20429316

4

Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity.

Mazen I, El-Gammal M, Abdel-Hamid M, Farooqi IS, Amr K. Mazen I, et al. Mol Genet Metab. 2011 Apr;102(4):461-4. doi: 10.1016/j.ymgme.2010.12.013. Epub 2010 Dec 31. Mol Genet Metab. 2011. PMID: 21306929

5

Tissue-specific mosaicism for tetrasomy 9p uncovered by array CGH.

Shehab MI, Mazen I, Bint S. Shehab MI, et al. Among authors: mazen i. Am J Med Genet A. 2011 Oct;155A(10):2496-2500. doi: 10.1002/ajmg.a.34176. Am J Med Genet A. 2011. PMID: 21998854

6

Isodicentric Y chromosomes in Egyptian patients with disorders of sex development (DSD).

Mekkawy M, Kamel A, El-Ruby M, Mohamed A, Essawi M, Soliman H, Dessouky N, Shehab M, Mazen I. Mekkawy M, et al. Among authors: mazen i. Am J Med Genet A. 2012 Jul;158A(7):1594-603. doi: 10.1002/ajmg.a.35487. Epub 2012 May 24. Am J Med Genet A. 2012. PMID: 22628100

7

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: mazen i. 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

8

Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications.

Mekkawy MK, Mazen IM, Kamel AK, Vater I, Zaki MS. Mekkawy MK, et al. Among authors: mazen im. Am J Med Genet A. 2016 Apr;170A(4):1050-8. doi: 10.1002/ajmg.a.37523. Epub 2016 Jan 8. Am J Med Genet A. 2016. PMID: 26749249

9

Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2.

El-Ruby M, El-Din Fayez A, El-Dessouky SH, Aglan MS, Mazen I, Ismail N, Afifi HH, Eid MM, Mostafa MI, Mehrez MI, Khalil Y, Zaki MS, Gaber KR, Abdel-Hamid MS, Abdel-Salam GMH. El-Ruby M, et al. Among authors: mazen i. Am J Med Genet A. 2018 May;176(5):1190-1194. doi: 10.1002/ajmg.a.38655. Am J Med Genet A. 2018. PMID: 29681084

10

A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis.

Mazen I, McElreavey K, Eid MM, Bashamboo A, Kamah G. Mazen I, et al. Sex Dev. 2018;12(5):239-243. doi: 10.1159/000491407. Epub 2018 Jul 21. Sex Dev. 2018. PMID: 30032139

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