Similar articles for PMID: 23726037

Year	Number of Results
2002	1
2004	1
2005	4
2006	4
2007	2
2008	1
2009	9
2010	5
2011	6
2012	7
2013	8
2014	5
2015	11
2016	12
2017	12
2018	7
2019	8
2020	4
2021	12
2022	10
2023	8
2024	0

1

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

2

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.

Rasool S, Baig JM, Moawia A, Ahmad I, Iqbal M, Waseem SS, Asif M, Abdullah U, Makhdoom EUH, Kaygusuz E, Zakaria M, Ramzan S, Haque SU, Mir A, Anjum I, Fiaz M, Ali Z, Tariq M, Saba N, Hussain W, Budde B, Irshad S, Noegel AA, Höning S, Baig SM, Nürnberg P, Hussain MS. Rasool S, et al. Mol Genet Genomic Med. 2020 Sep;8(9):e1408. doi: 10.1002/mgg3.1408. Epub 2020 Jul 17. Mol Genet Genomic Med. 2020. PMID: 32677750 Free PMC article.

3

Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.

Hassan MJ, Khurshid M, Azeem Z, John P, Ali G, Chishti MS, Ahmad W. Hassan MJ, et al. BMC Med Genet. 2007 Sep 1;8:58. doi: 10.1186/1471-2350-8-58. BMC Med Genet. 2007. PMID: 17764569 Free PMC article.

4

A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family.

Abdullah U, Farooq M, Mang Y, Marriam Bakhtiar S, Fatima A, Hansen L, Kjaer KW, Larsen LA, Faryal S, Tommerup N, Mahmood Baig S. Abdullah U, et al. Eur J Med Genet. 2017 Dec;60(12):627-630. doi: 10.1016/j.ejmg.2017.07.017. Epub 2017 Aug 2. Eur J Med Genet. 2017. PMID: 28778786

5

Genetic heterogeneity in Pakistani microcephaly families revisited.

Ahmad I, Baig SM, Abdulkareem AR, Hussain MS, Sur I, Toliat MR, Nürnberg G, Dalibor N, Moawia A, Waseem SS, Asif M, Nagra H, Sher M, Khan MMA, Hassan I, Rehman SU, Thiele H, Altmüller J, Noegel AA, Nürnberg P. Ahmad I, et al. Clin Genet. 2017 Jul;92(1):62-68. doi: 10.1111/cge.12955. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 28004384

6

A new association between CDK5RAP2 microcephaly and congenital cataracts.

Alfares A, Alhufayti I, Alsubaie L, Alowain M, Almass R, Alfadhel M, Kaya N, Eyaid W. Alfares A, et al. Ann Hum Genet. 2018 May;82(3):165-170. doi: 10.1111/ahg.12232. Epub 2017 Dec 22. Ann Hum Genet. 2018. PMID: 29271474

7

Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.

Ben Ayed I, Bouchaala W, Bouzid A, Feki W, Souissi A, Ben Nsir S, Ben Said M, Sammouda T, Majdoub F, Kharrat I, Kamoun F, Elloumi I, Kamoun H, Tlili A, Masmoudi S, Triki C. Ben Ayed I, et al. Eur J Med Genet. 2021 Dec;64(12):104373. doi: 10.1016/j.ejmg.2021.104373. Epub 2021 Oct 29. Eur J Med Genet. 2021. PMID: 34737153

8

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.

9

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.

10

CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.

Sukumaran SK, Stumpf M, Salamon S, Ahmad I, Bhattacharya K, Fischer S, Müller R, Altmüller J, Budde B, Thiele H, Tariq M, Malik NA, Nürnberg P, Baig SM, Hussain MS, Noegel AA. Sukumaran SK, et al. Mol Genet Genomics. 2017 Apr;292(2):365-383. doi: 10.1007/s00438-016-1277-x. Epub 2016 Dec 21. Mol Genet Genomics. 2017. PMID: 28004182 Free PMC article.

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