Zaki M - Search Results

1

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

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: zaki ms. Clin Genet. 1996 Oct;50(4):240-3. doi: 10.1111/j.1399-0004.1996.tb02635.x. Clin Genet. 1996. PMID: 9001808

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

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.

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

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

7

Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome.

El-Ruby M, Hemly NA, Zaki MS. El-Ruby M, et al. Among authors: zaki ms. Genet Couns. 2007;18(2):217-26. Genet Couns. 2007. PMID: 17710874

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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