Zaki MS - Search Results

1

Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.

von Elsner L, Chai G, Schneeberger PE, Harms FL, Casar C, Qi M, Alawi M, Abdel-Salam GMH, Zaki MS, Arndt F, Yang X, Stanley V, Hempel M, Gleeson JG, Kutsche K. von Elsner L, et al. Among authors: zaki ms. Brain. 2022 May 24;145(4):1551-1563. doi: 10.1093/brain/awab403. Brain. 2022. PMID: 34694367 Free PMC article.

2

Aicardi-Goutières syndrome: clinical and neuroradiological findings of 10 new cases.

Abdel-Salam GM, Zaki MS, Lebon P, Meguid NA. Abdel-Salam GM, et al. Among authors: zaki ms. Acta Paediatr. 2004 Jul;93(7):929-36. doi: 10.1111/j.1651-2227.2004.tb02691.x. Acta Paediatr. 2004. PMID: 15303808

3

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, Krishnamoorthy KS, Lagier-Tourenne C, Magee A, Pascual-Castroviejo I, Salpietro CD, Sarco D, Dallapiccola B, Gleeson JG; International JSRD Study Group. Valente EM, et al. Among authors: zaki ms. Ann Neurol. 2006 Mar;59(3):527-34. doi: 10.1002/ana.20749. Ann Neurol. 2006. PMID: 16453322 Free article.

4

Isolated Dandy-Walker malformation associated with brain stem dysgenesis in male sibs.

Abdel-Salam GM, Shehab M, Zaki MS. Abdel-Salam GM, et al. Among authors: zaki ms. Brain Dev. 2006 Sep;28(8):529-33. doi: 10.1016/j.braindev.2006.01.009. Epub 2006 Mar 29. Brain Dev. 2006. PMID: 16564660

5

Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.

Zaki M, Shehab M, El-Aleem AA, Abdel-Salam G, Koeller HB, Ilkin Y, Ross ME, Dobyns WB, Gleeson JG. Zaki M, et al. Am J Med Genet A. 2007 May 1;143A(9):939-44. doi: 10.1002/ajmg.a.31667. Am J Med Genet A. 2007. PMID: 17431900

6

The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.

Zaki MS, Abdel-Aleem A, Abdel-Salam G, Marsh SE, Silhavy JL, Barkovich AJ, Ross ME, Saleem SN, Dobyns WB, Gleeson JG. Zaki MS, et al. Neurology. 2008 Feb 12;70(7):556-65. doi: 10.1212/01.wnl.0000277644.12087.fd. Neurology. 2008. PMID: 18268248

7

Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome.

Abdel-Salam GM, Zaki MS, Saleem SN, Gaber KR. Abdel-Salam GM, et al. Among authors: zaki ms. Am J Med Genet A. 2008 Nov 15;146A(22):2929-36. doi: 10.1002/ajmg.a.32549. Am J Med Genet A. 2008. PMID: 18925673

8

Band-like intracranial calcification (BIC), microcephaly and malformation of brain development: a distinctive form of congenital infection like syndromes.

Abdel-Salam GM, Zaki MS. Abdel-Salam GM, et al. Among authors: zaki ms. Am J Med Genet A. 2009 Jul;149A(7):1565-8. doi: 10.1002/ajmg.a.32894. Am J Med Genet A. 2009. PMID: 19530192 No abstract available.

9

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

Zaki MS, Afifi HH, Barkovich AJ, Gleeson JG. Zaki MS, et al. 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.

10

Chilblains as a diagnostic sign of aicardi-goutières syndrome.

Abdel-Salam GM, El-Kamah GY, Rice GI, El-Darouti M, Gornall H, Szynkiewicz M, Aymard F, Zaki MS, Abdel-Aleem AK, Lebon P, Crow YJ. Abdel-Salam GM, et al. Among authors: zaki ms. Neuropediatrics. 2010 Feb;41(1):18-23. doi: 10.1055/s-0030-1255059. Epub 2010 Jun 22. Neuropediatrics. 2010. PMID: 20571986

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