Afifi HH - Search Results

1

Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism.

Shaheen R, Abdel-Salam GM, Guy MP, Alomar R, Abdel-Hamid MS, Afifi HH, Ismail SI, Emam BA, Phizicky EM, Alkuraya FS. Shaheen R, et al. Among authors: afifi hh. Genome Biol. 2015 Sep 28;16:210. doi: 10.1186/s13059-015-0779-x. Genome Biol. 2015. PMID: 26416026 Free PMC article.

2

Growth charts of Egyptian children with Down syndrome (0-36 months).

Meguid NA, El-Kotoury AI, Abdel-Salam GM, El-Ruby MO, Afifi HH. Meguid NA, et al. Among authors: afifi hh. East Mediterr Health J. 2004 Jan-Mar;10(1-2):106-15. East Mediterr Health J. 2004. PMID: 16201715 Free article.

3

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. Among authors: afifi hh. 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

4

Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and hypogammaglobulinemia A in Kabuki syndrome: a rare combination.

Abdel-Salam GM, Afifi HH, Eid MM, el-Badry TH, Kholoussi NM. Abdel-Salam GM, et al. Among authors: afifi hh. Genet Couns. 2008;19(3):309-17. Genet Couns. 2008. PMID: 18990987

5

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. Bratisl Lek Listy. 2010;111(2):62-9. Bratisl Lek Listy. 2010. PMID: 20429316

6

Ectodermal abnormalities in patients with Kabuki syndrome.

Abdel-Salam GM, Afifi HH, Eid MM, El-Badry TH, Kholoussi N. Abdel-Salam GM, et al. Among authors: afifi hh. Pediatr Dermatol. 2011 Sep-Oct;28(5):507-11. doi: 10.1111/j.1525-1470.2011.01495.x. Epub 2011 Jun 22. Pediatr Dermatol. 2011. PMID: 21692838

7

A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).

Abdel-Salam GM, Schaffer AE, Zaki MS, Dixon-Salazar T, Mostafa IS, Afifi HH, Gleeson JG. Abdel-Salam GM, et al. Among authors: afifi hh. Am J Med Genet A. 2012 Nov;158A(11):2788-96. doi: 10.1002/ajmg.a.35583. Epub 2012 Sep 18. Am J Med Genet A. 2012. PMID: 22991235 Free PMC article.

8

Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: a rare co-occurrence with bipartite parietal bone.

Abdel-Salam GM, Abdel-Hadi S, Thomas MM, Eid OM, Ali MM, Afifi HH. Abdel-Salam GM, et al. Among authors: afifi hh. Am J Med Genet A. 2014 Feb;164A(2):480-3. doi: 10.1002/ajmg.a.36276. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311025

9

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.

Abdel-Salam G, Thoenes M, Afifi HH, Körber F, Swan D, Bolz HJ. Abdel-Salam G, et al. Among authors: afifi hh. Orphanet J Rare Dis. 2014 Jan 23;9:12. doi: 10.1186/1750-1172-9-12. Orphanet J Rare Dis. 2014. PMID: 24456803 Free PMC article.

10

De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features.

Afifi HH, Fukai R, Miyake N, Gamal El Din AA, Eid MM, Eid OM, Thomas MM, El-Badry TH, Tosson AM, Abdel-Salam GM, Matsumoto N. Afifi HH, et al. Am J Med Genet A. 2015 Oct;167A(10):2418-24. doi: 10.1002/ajmg.a.37185. Epub 2015 May 31. Am J Med Genet A. 2015. PMID: 26033841

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