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Items: 1 to 20 of 32

1.
Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability
Ethiraj Ravindran, Cynthia Gutierrez de Velazco, Ali Ghazanfar, Nadine Kraemer, Sami Zaqout, Abdul Waheed, Mohsan Hanif, Sadia Mughal, Alessandro Prigione, Na Li, Xiang Fang, Hao Hu, Angela M Kaindl
J Med Genet. 2022 May; 59(5): 453–461. Published online 2021 May 31. doi: 10.1136/jmedgenet-2020-107518
PMCID:
PMC9046757
ArticlePDF–4.7M
2.
Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families
Niaz Muhammad Khan, Muhammad Shareef Masoud, Shahid Mahmood Baig, Muhammad Qasim, Junlei Chang
Biomed Res Int. 2022; 2022: 3769948. Published online 2022 Mar 3. doi: 10.1155/2022/3769948
PMCID:
PMC8913137
ArticlePDF–782K
3.
A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family
Syeda Seema Waseem, Abubakar Moawia, Birgit Budde, Muhammad Tariq, Ayaz Khan, Zafar Ali, Sheraz Khan, Maria Iqbal, Naveed Altaf Malik, Saif ul Haque, Janine Altmüller, Holger Thiele, Muhammad Sajid Hussain, Sebahattin Cirak, Shahid Mahmood Baig, Peter Nürnberg
Genes (Basel) 2021 Oct; 12(10): 1494. Published online 2021 Sep 24. doi: 10.3390/genes12101494
PMCID:
PMC8535656
ArticlePDF–2.2M
4.
Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene
Ryszard Slezak, Robert Smigiel, Ewa Obersztyn, Agnieszka Pollak, Mateusz Dawidziuk, Wojciech Wiszniewski, Monika Bekiesinska-Figatowska, Malgorzata Rydzanicz, Rafal Ploski, Pawel Gawlinski
Genes (Basel) 2021 Apr; 12(4): 594. Published online 2021 Apr 19. doi: 10.3390/genes12040594
PMCID:
PMC8072659
ArticlePDF–1.8M
5.
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan
Sajida Rasool, Jamshaid Mahmood Baig, Abubakar Moawia, Ilyas Ahmad, Maria Iqbal, Syeda Seema Waseem, Maria Asif, Uzma Abdullah, Ehtisham Ul Haq Makhdoom, Emrah Kaygusuz, Muhammad Zakaria, Shafaq Ramzan, Saif ul Haque, Asif Mir, Iram Anjum, Mehak Fiaz, Zafar Ali, Muhammad Tariq, Neelam Saba, Wajid Hussain, Birgit Budde, Saba Irshad, Angelika Anna Noegel, Stefan Höning, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain
Mol Genet Genomic Med. 2020 Sep; 8(9): e1408. Published online 2020 Jul 17. doi: 10.1002/mgg3.1408
PMCID:
PMC7507472
ArticlePDF–902K
6.
Microcephaly family protein MCPH1 stabilizes RAD51 filaments
Hao-Yen Chang, Chia-Yi Lee, Chih-Hao Lu, Wei Lee, Han-Lin Yang, Hsin-Yi Yeh, Hung-Wen Li, Peter Chi
Nucleic Acids Res. 2020 Sep 18; 48(16): 9135–9146. Published online 2020 Jul 31. doi: 10.1093/nar/gkaa636
PMCID:
PMC7498314
ArticlePDF–5.3M
7.
Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report
Vincent Picher-Martel, Yvan Labrie, Serge Rivest, Baiba Lace, Nicolas Chrestian
BMC Neurol. 2020; 20: 58. Published online 2020 Feb 15. doi: 10.1186/s12883-020-01643-1
PMCID:
PMC7023720
ArticlePDF–2.4M
8.
Expanding the clinical spectrum of biallelic ZNF335 variants
Katrien Stouffs, Andrew B. Stergachis, Tim Vanderhasselt, Alice Dica, Sandra Janssens, Laura Vandervore, Alexander Gheldof, Olaf Bodamer, Kathelijn Keymolen, Sara Seneca, Inge Liebaers, Divya Jayaraman, Haley E. Hill, Jennifer N. Partlow, Christopher A. Walsh, Anna C. Jansen
Clin Genet. Author manuscript; available in PMC 2019 Aug 1.
Published in final edited form as: Clin Genet. 2018 Aug; 94(2): 246–251. Published online 2018 May 3. doi: 10.1111/cge.13260
PMCID:
PMC6361164
ArticlePDF–1.1M
9.
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
ArticlePDF–721K
10.
A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly
Jamil A. Hashmi, Khalid M. Al-Harbi, Khushnooda Ramzan, Alia M. Albalawi, Amir Mehmood, Mohammed I. Samman, Sulman Basit
Ann Saudi Med. 2016 Nov-Dec; 36(6): 391–396. doi: 10.5144/0256-4947.2016.391
PMCID:
PMC6074201
ArticlePDF–1.2M
11.
Genetic basis of brain size evolution in cetaceans: insights from adaptive evolution of seven primary microcephaly (MCPH) genes
Shixia Xu, Xiaohui Sun, Xu Niu, Zepeng Zhang, Ran Tian, Wenhua Ren, Kaiya Zhou, Guang Yang
BMC Evol Biol. 2017; 17: 206. Published online 2017 Aug 29. doi: 10.1186/s12862-017-1051-7
PMCID:
PMC5576371
ArticlePDF–1.6M
12.
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
ArticlePDF–8.0M
13.
Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2
Santasree Banerjee, Huishuang Chen, Hui Huang, Jing Wu, Zhiyun Yang, Weiping Deng, Dongna Chen, Jianlian Deng, Yan Su, Yang Li, Chao Wu, Ye Wang, Hao Zeng, Yiming Wang, Xunhua Li
Oncotarget. 2016 Nov 29; 7(48): 78363–78371. Published online 2016 Nov 10. doi: 10.18632/oncotarget.13279
PMCID:
PMC5346645
ArticlePDF–1.3M
14.
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly
Hongda Li, Stephanie L. Bielas, Maha S. Zaki, Samira Ismail, Dorit Farfara, Kyongmi Um, Rasim O. Rosti, Eric C. Scott, Shu Tu, Neil C. Chi, Stacey Gabriel, Emine Z. Erson-Omay, A. Gulhan Ercan-Sencicek, Katsuhito Yasuno, Ahmet Okay Çağlayan, Hande Kaymakçalan, Barış Ekici, Kaya Bilguvar, Murat Gunel, Joseph G. Gleeson
Am J Hum Genet. 2016 Aug 4; 99(2): 501–510. Published online 2016 Jul 21. doi: 10.1016/j.ajhg.2016.07.004
PMCID:
PMC4974110
ArticlePDF–1.7M
15.
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons
Brian N. Harding, Amanda Moccia, Séverine Drunat, Omar Soukarieh, Hélène Tubeuf, Lyn S. Chitty, Alain Verloes, Pierre Gressens, Vincent El Ghouzzi, Sylvie Joriot, Ferdinando Di Cunto, Alexandra Martins, Sandrine Passemard, Stephanie L. Bielas
Am J Hum Genet. 2016 Aug 4; 99(2): 511–520. Published online 2016 Jul 21. doi: 10.1016/j.ajhg.2016.07.003
PMCID:
PMC4974106
ArticlePDF–4.2M
16.
Novel Alternative Splice Variants of Mouse Cdk5rap2
Nadine Kraemer, Lina Issa-Jahns, Gerda Neubert, Ethiraj Ravindran, Shyamala Mani, Olaf Ninnemann, Angela M. Kaindl
PLoS One. 2015; 10(8): e0136684. Published online 2015 Aug 31. doi: 10.1371/journal.pone.0136684
PMCID:
PMC4556188
ArticlePDF–1.3M
17.
A novel single base pair duplication in WDR62 causes primary microcephaly
Verena Rupp, Sobiah Rauf, Ishrat Naveed, Windpassinger Christian, Asif Mir
BMC Med Genet. 2014; 15: 107. Published online 2014 Oct 11. doi: 10.1186/s12881-014-0107-4
PMCID:
PMC4258795
ArticlePDF–2.4M
18.
Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation
Heba Gamal Farag, Sebastian Froehler, Konrad Oexle, Ethiraj Ravindran, Detlev Schindler, Timo Staab, Angela Huebner, Nadine Kraemer, Wei Chen, Angela M Kaindl
Orphanet J Rare Dis. 2013; 8: 178. Published online 2013 Nov 14. doi: 10.1186/1750-1172-8-178
PMCID:
PMC4225825
ArticlePDF–1.5M
19.
The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome
Laura M McDonell, Jodi Warman Chardon, Jeremy Schwartzentruber, Denise Foster, Chandree L Beaulieu, Jacek Majewski, Dennis E Bulman, Kym M Boycott
BMC Neurol. 2014; 14: 22. Published online 2014 Jan 31. doi: 10.1186/1471-2377-14-22
PMCID:
PMC3916514
ArticlePDF–708K
20.
Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation
Lina Issa, Katrin Mueller, Katja Seufert, Nadine Kraemer, Henning Rosenkotter, Olaf Ninnemann, Michael Buob, Angela M Kaindl, Deborah J Morris-Rosendahl
Orphanet J Rare Dis. 2013; 8: 59. Published online 2013 Apr 15. doi: 10.1186/1750-1172-8-59
PMCID:
PMC3639195
ArticlePDF–2.0M

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