Afifi HH - Search Results

1

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.

2

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

3

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

4

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

5

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.

6

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

7

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

8

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.

9

Expanding the mutation and clinical spectrum of Roberts syndrome.

Afifi HH, Abdel-Salam GM, Eid MM, Tosson AM, Shousha WG, Abdel Azeem AA, Farag MK, Mehrez MI, Gaber KR. Afifi HH, et al. Congenit Anom (Kyoto). 2016 Jul;56(4):154-62. doi: 10.1111/cga.12151. Congenit Anom (Kyoto). 2016. PMID: 26710928

10

De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.

Afifi HH, Abdel-Hamid MS, Eid MM, Mostafa IS, Abdel-Salam GM. Afifi HH, et al. Pediatr Dermatol. 2016 Mar-Apr;33(2):e109-13. doi: 10.1111/pde.12821. Epub 2016 Feb 12. Pediatr Dermatol. 2016. PMID: 26871653

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