Zaki MS - Search Results

1

Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I.

Abdel-Salam GM, Abdel-Hamid MS, Hassan NA, Issa MY, Effat L, Ismail S, Aglan MS, Zaki MS. Abdel-Salam GM, et al. Among authors: zaki ms. Am J Med Genet A. 2013 Aug;161A(8):1875-81. doi: 10.1002/ajmg.a.36009. Epub 2013 Jun 21. Am J Med Genet A. 2013. PMID: 23794361

2

Familial congenital brachial palsy: a report of two affected Egyptian families.

Zaki MS, el Sabbagh MH, Aglan MS. Zaki MS, et al. Genet Couns. 2004;15(1):27-36. Genet Couns. 2004. PMID: 15083696

3

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

4

Assessment of pubertal development in Egyptian girls.

Hosny LA, El-Ruby MO, Zaki ME, Aglan MS, Zaki MS, El Gammal MA, Mazen IM. Hosny LA, et al. Among authors: zaki me, zaki ms. J Pediatr Endocrinol Metab. 2005 Jun;18(6):577-84. doi: 10.1515/jpem.2005.18.6.577. J Pediatr Endocrinol Metab. 2005. PMID: 16042325

5

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

6

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

7

Adams-Oliver syndrome: further evidence of an autosomal recessive variant.

Temtamy SA, Aglan MS, Ashour AM, Zaki MS. Temtamy SA, et al. Among authors: zaki ms. Clin Dysmorphol. 2007 Jul;16(3):141-149. doi: 10.1097/MCD.0b013e3280f9df22. Clin Dysmorphol. 2007. PMID: 17551326

8

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

9

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group; Dallapiccola B, Gleeson JG, Valente EM. Brancati F, et al. Clin Genet. 2008 Aug;74(2):164-70. doi: 10.1111/j.1399-0004.2008.01047.x. Epub 2008 Jun 28. Clin Genet. 2008. PMID: 18565097 Free PMC article.

10

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

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