Afifi HH - Search Results

1

Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder.

Zaki MS, Afifi HH, Barkovich AJ, Gleeson JG. Zaki MS, et al. Among authors: afifi hh. Am J Med Genet A. 2009 Aug;149A(8):1789-94. doi: 10.1002/ajmg.a.32983. Am J Med Genet A. 2009. PMID: 19610102 Free PMC article.

2

COFS syndrome with familial 1;16 translocation.

Temtamy SA, Meguid NA, Mahmoud A, Afifi HH, Gerzawy A, Zaki MS. Temtamy SA, et al. Among authors: afifi hh. Clin Genet. 1996 Oct;50(4):240-3. doi: 10.1111/j.1399-0004.1996.tb02635.x. Clin Genet. 1996. PMID: 9001808

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

Elejalde syndrome: clinical and histopathological findings in an Egyptian male.

Afifi HH, Zaki MS, El-Kamah GY, El-Darouti M. Afifi HH, et al. Genet Couns. 2007;18(2):179-88. Genet Couns. 2007. PMID: 17710870

5

Distal 11q monosomy syndrome: a report of two Egyptian sibs with normal parental karyotypes confirmed by molecular cytogenetics.

Afifi HH, Zaki MS, El-Gerzawy AM, Kayed HF. Afifi HH, et al. Genet Couns. 2008;19(1):47-58. Genet Couns. 2008. PMID: 18564501

6

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

7

Congenital isolated leukonychia totalis in three Egyptian sibs.

Afifi HH, Abdel-Hamid MF, Zaki MS. Afifi HH, et al. Am J Med Genet A. 2011 Apr;155A(4):811-4. doi: 10.1002/ajmg.a.33907. Epub 2011 Mar 15. Am J Med Genet A. 2011. PMID: 21412976

8

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.

9

Mutations in ANTXR1 cause GAPO syndrome.

Stránecký V, Hoischen A, Hartmannová H, Zaki MS, Chaudhary A, Zudaire E, Nosková L, Barešová V, Přistoupilová A, Hodaňová K, Sovová J, Hůlková H, Piherová L, Hehir-Kwa JY, de Silva D, Senanayake MP, Farrag S, Zeman J, Martásek P, Baxová A, Afifi HH, St Croix B, Brunner HG, Temtamy S, Kmoch S. Stránecký V, et al. Among authors: afifi hh. Am J Hum Genet. 2013 May 2;92(5):792-9. doi: 10.1016/j.ajhg.2013.03.023. Epub 2013 Apr 18. Am J Hum Genet. 2013. PMID: 23602711 Free PMC article.

10

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

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