Cited Articles for PMCID: 4929875

Year	Number of Results
1992	1
2005	2
2007	3
2008	1
2009	1
2010	2
2011	3
2012	3
2013	2
2014	3
2015	3
2025	0

1

Molecular genetics of human primary microcephaly: an overview.

Faheem M, Naseer MI, Rasool M, Chaudhary AG, Kumosani TA, Ilyas AM, Pushparaj P, Ahmed F, Algahtani HA, Al-Qahtani MH, Saleh Jamal H. Faheem M, et al. BMC Med Genomics. 2015;8 Suppl 1(Suppl 1):S4. doi: 10.1186/1755-8794-8-S1-S4. Epub 2015 Jan 15. BMC Med Genomics. 2015. PMID: 25951892 Free PMC article. Review.

2

Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay.

Li MH, Arndt K, Das S, Weiss EM, Wu Y, Gwal K, Shekdar KV, Zackai EH. Li MH, et al. Am J Med Genet A. 2015 Jun;167(6):1414-7. doi: 10.1002/ajmg.a.36975. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25899944 No abstract available.

3

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.

Gauthier J, Ouled Amar Bencheikh B, Hamdan FF, Harrison SM, Baker LA, Couture F, Thiffault I, Ouazzani R, Samuels ME, Mitchell GA, Rouleau GA, Michaud JL, Soucy JF. Gauthier J, et al. Eur J Hum Genet. 2015 Sep;23(9):1266-8. doi: 10.1038/ejhg.2014.256. Epub 2014 Nov 19. Eur J Hum Genet. 2015. PMID: 25407000 Free PMC article.

4

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.

Edwards TJ, Sherr EH, Barkovich AJ, Richards LJ. Edwards TJ, et al. Brain. 2014 Jun;137(Pt 6):1579-613. doi: 10.1093/brain/awt358. Epub 2014 Jan 28. Brain. 2014. PMID: 24477430 Free PMC article. Review.

5

The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing.

Tan CA, Topper S, Ward Melver C, Stein J, Reeder A, Arndt K, Das S. Tan CA, et al. Brain Dev. 2014 Apr;36(4):351-5. doi: 10.1016/j.braindev.2013.05.001. Epub 2013 May 28. Brain Dev. 2014. PMID: 23726037

6

Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation.

Issa L, Mueller K, Seufert K, Kraemer N, Rosenkotter H, Ninnemann O, Buob M, Kaindl AM, Morris-Rosendahl DJ. Issa L, et al. Orphanet J Rare Dis. 2013 Apr 15;8:59. doi: 10.1186/1750-1172-8-59. Orphanet J Rare Dis. 2013. PMID: 23587236 Free PMC article.

7

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.

Pagnamenta AT, Murray JE, Yoon G, Sadighi Akha E, Harrison V, Bicknell LS, Ajilogba K, Stewart H, Kini U, Taylor JC, Keays DA, Jackson AP, Knight SJ. Pagnamenta AT, et al. Am J Med Genet A. 2012 Oct;158A(10):2577-82. doi: 10.1002/ajmg.a.35558. Epub 2012 Aug 10. Am J Med Genet A. 2012. PMID: 22887808 Free PMC article.

8

Neurodevelopment after prenatal diagnosis of isolated agenesis of the corpus callosum: an integrative review.

Sotiriadis A, Makrydimas G. Sotiriadis A, et al. Am J Obstet Gynecol. 2012 Apr;206(4):337.e1-5. doi: 10.1016/j.ajog.2011.12.024. Epub 2011 Dec 27. Am J Obstet Gynecol. 2012. PMID: 22284958 Review.

9

Neurophysiological investigation of congenital mirror movements in a patient with agenesis of the corpus callosum.

Lepage JF, Beaulé V, Srour M, Rouleau G, Pascual-Leone A, Lassonde M, Théoret H. Lepage JF, et al. Brain Stimul. 2012 Apr;5(2):137-40. doi: 10.1016/j.brs.2011.02.004. Epub 2011 Mar 23. Brain Stimul. 2012. PMID: 22037131

10

Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.

Mahmood S, Ahmad W, Hassan MJ. Mahmood S, et al. Orphanet J Rare Dis. 2011 Jun 13;6:39. doi: 10.1186/1750-1172-6-39. Orphanet J Rare Dis. 2011. PMID: 21668957 Free PMC article. Review.

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