PMC Articles for MedGen (Select 1631589) - PMC

Select item 61505481.

A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family

Muhammad Imran Naseer, Mahmood Rasool, Sameera Sogaty, Rukhaa Adeel Chaudhary, Haifa Mansour Mansour, Adeel G. Chaudhary, Adel M. Abuzenadah, Mohammad H. Al-Qahtani

Ann Saudi Med. 2017 Mar-Apr; 37(2): 148–153. doi: 10.5144/0256-4947.2017.148

PMCID:: PMC6150548

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Select item 53573052.

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

Salil K. Sukumaran, Maria Stumpf, Sarah Salamon, Ilyas Ahmad, Kurchi Bhattacharya, Sarah Fischer, Rolf Müller, Janine Altmüller, Birgit Budde, Holger Thiele, Muhammad Tariq, Naveed Altaf Malik, Peter Nürnberg, Shahid Mahmood Baig, Muhammad Sajid Hussain, Angelika A. Noegel

Mol Genet Genomics. 2017; 292(2): 365–383. Published online 2016 Dec 21. doi: 10.1007/s00438-016-1277-x

PMCID:: PMC5357305

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Select item 46784283.

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

Hanan Shamseldin, Anas M. Alazami, Melanie Manning, Amal Hashem, Oana Caluseiu, Brahim Tabarki, Edward Esplin, Susan Schelley, A. Micheil Innes, Jillian S. Parboosingh, Ryan Lamont, Care4Rare Canada Consortium, Jacek Majewski, Francois P. Bernier, Fowzan S. Alkuraya

Am J Hum Genet. 2015 Dec 3; 97(6): 862–868. Published online 2015 Nov 19. doi: 10.1016/j.ajhg.2015.10.012

PMCID:: PMC4678428

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Select item 26587504.

The molecular landscape of ASPM mutations in primary microcephaly

A K Nicholas, E A Swanson, J J Cox, G Karbani, S Malik, K Springell, D Hampshire, M Ahmed, J Bond, D Di Benedetto, M Fichera, C Romano, W B Dobyns, C G Woods

J Med Genet. 2009 Apr; 46(4): 249–253. Published online 2008 Nov 21. doi: 10.1136/jmg.2008.062380

PMCID:: PMC2658750

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Select item 11804965.

Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size

Jacquelyn Bond, Sheila Scott, Daniel J. Hampshire, Kelly Springell, Peter Corry, Marc J. Abramowicz, Ganesh H. Mochida, Raoul C. M. Hennekam, Eamonn R. Maher, Jean-Pierre Fryns, Abdulrahman Alswaid, Hussain Jafri, Yasmin Rashid, Ammar Mubaidin, Christopher A. Walsh, Emma Roberts, C. Geoffrey Woods

Am J Hum Genet. 2003 Nov; 73(5): 1170–1177. Published online 2003 Oct 21. doi: 10.1086/379085

PMCID:: PMC1180496

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