PMC Articles for MedGen (Select 1646916) - PMC

Select item 80917451.

Molecular evolutionary analysis of human primary microcephaly genes

Nashaiman Pervaiz, Hongen Kang, Yiming Bao, Amir Ali Abbasi

BMC Ecol Evol. 2021; 21: 76. Published online 2021 May 3. doi: 10.1186/s12862-021-01801-0

PMCID:: PMC8091745

Abstract Article PDF–967K

Select item 70842222.

The Yin and Yang of Autosomal Recessive Primary Microcephaly Genes: Insights from Neurogenesis and Carcinogenesis

Xiaokun Zhou, Yiqiang Zhi, Jurui Yu, Dan Xu

Int J Mol Sci. 2020 Mar; 21(5): 1691. Published online 2020 Mar 1. doi: 10.3390/ijms21051691

PMCID:: PMC7084222

Abstract Article PDF–1.6M

Select item 69863853.

Genomic and phenotypic delineation of congenital microcephaly

Ranad Shaheen, Sateesh Maddirevula, Nour Ewida, Saud Alsahli, Ghada M. H. Abdel-Salam, Maha S. Zaki, Saeed Al Tala, Amal Alhashem, Ameen Softah, Mohammed Al-Owain, Anas M. Alazami, Basma Abadel, Nisha Patel, Tarfa Al-Sheddi, Rana Alomar, Eman Alobeid, Niema Ibrahim, Mais Hashem, Firdous Abdulwahab, Muddathir Hamad, Brahim Tabarki, Ali H. Alwadei, Fahad Alhazzani, Fahad A. Bashiri, Amal Kentab, Serdar Şahintürk, Elliott Sherr, Brieana Fregeau, Samira Sogati, Saad Ali M. Alshahwan, Salwa Alkhalifi, Zainab Alhumaidi, Samia Temtamy, Mona Aglan, Ghada Otaify, Katta M. Girisha, Maha Tulbah, Mohammed Zain Seidahmed, Mustafa A. Salih, Mohamed Abouelhoda, Afaque A. Momin, Muna Al Saffar, Jennifer N. Partlow, Stefan T. Arold, Eissa Faqeih, Christopher Walsh, Fowzan S. Alkuraya

Genet Med. Author manuscript; available in PMC 2020 Jan 28.

Published in final edited form as: Genet Med. 2019 Mar; 21(3): 545–552. Published online 2018 Sep 14. doi: 10.1038/s41436-018-0140-3

PMCID:: PMC6986385

Abstract Article PDF–1.0M

Select item 58195914.

Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly

Daniela A. Braun, Jia Rao, Geraldine Mollet, David Schapiro, Marie-Claire Daugeron, Weizhen Tan, Olivier Gribouval, Olivia Boyer, Patrick Revy, Tilman Jobst-Schwan, Johanna Magdalena Schmidt, Jennifer A. Lawson, Denny Schanze, Shazia Ashraf, Nathalie Boddaert, Bruno Collinet, Gaëlle Martin, Dominique Liger, Svjetlana Lovric, Monica Furlano, I. Chiara Guerrera, Oraly Sanchez-Ferras, Björn Menten, Sarah Vergult, Nina De Rocker, Merlin Airik, Tobias Hermle, Shirlee Shril, Eugen Widmeier, Heon Yung Gee, Won-Il Choi, Carolin E. Sadowski, Werner L. Pabst, Jillian Warejko, Ankana Daga, Tamara Basta LeBerre, Verena Matejas, Babak Behnam, Brendan Beeson, Amber Begtrup, Malcolm Bruce, Gaik-Siew Ch'ng, Shuan-Pei Lin, Jui-Hsing Chang, Chao-Huei Chen, Megan T. Cho, Patrick E. Gipson, Chyong-Hsin Hsu, Jameela A. Kari, Yu-Yuan Ke, Cathy Kiraly-Borri, Wai-ming Lai, Emmanuelle Lemyre, Rebecca Okasha Littlejohn, Amira Masri, Mastaneh Moghtaderi, Kazuyuki Nakamura, Marleen Praet, Chitra Prasad, Agnieszka Prytula, Elizabeth Roeder, Patrick Rump, Rhonda E. Schnur, Takashi Shiihara, Manish Sinha, Neveen A Soliman, Kenza Soulami, David A. Sweetser, Wen-Hui Tsai, Jeng-Daw Tsai, Udo Vester, David H. Viskochil, Nithiwat Vatanavicharn, Jessica L. Waxler, Matthias T.F. Wolf, Sik-Nin Wong, Annapurna Poduri, Gessica Truglio, Shrikant Mane, Richard P. Lifton, Maxime Bouchard, Peter Kannu, David Chitayat, Daniella Magen, Bert Calleweart, Herman van Tilbeurgh, Martin Zenker, Corinne Antignac, Friedhelm Hildebrandt

Nat Genet. Author manuscript; available in PMC 2018 Apr 1.

Published in final edited form as: Nat Genet. 2017 Oct; 49(10): 1529–1538. Published online 2017 Aug 14. doi: 10.1038/ng.3933

PMCID:: PMC5819591

Abstract Article PDF–1.8M

Select item 35894255.

Primary Microcephaly Gene MCPH1 Shows Signatures of Tumor Suppressors and Is Regulated by miR-27a in Oral Squamous Cell Carcinoma

Thejaswini Venkatesh, Mathighatta Nagaraj Nagashri, Shivananda S. Swamy, S. M. Azeem Mohiyuddin, Kodaganur S. Gopinath, Arun Kumar

PLoS One. 2013; 8(3): e54643. Published online 2013 Mar 5. doi: 10.1371/journal.pone.0054643

PMCID:: PMC3589425

Abstract Article PDF–2.8M

Select item 33716556.

Cdk5rap2 Exposes the Centrosomal Root of Microcephaly Syndromes

Timothy L. Megraw, James T. Sharkey, Richard S. Nowakowski

Trends Cell Biol. Author manuscript; available in PMC 2012 Aug 1.

Published in final edited form as: Trends Cell Biol. 2011 Aug; 21(8): 470–480. Published online 2011 May 31. doi: 10.1016/j.tcb.2011.04.007

PMCID:: PMC3371655

Abstract Article PDF–1.1M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 6

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity