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Items: 15

Select item 94550541.

The Central Domain of MCPH1 Controls Development of the Cerebral Cortex and Gonads in Mice

Yaru Wang, Wen Zong, Wenli Sun, Chengyan Chen, Zhao-Qi Wang, Tangliang Li

Cells. 2022 Sep; 11(17): 2715. Published online 2022 Aug 31. doi: 10.3390/cells11172715

PMCID:: PMC9455054

Abstract Article PDF–4.2M

Select item 93138502.

Molybdenum cofactor deficiency: A natural history

Ronen Spiegel, Bernd C. Schwahn, Liza Squires, Nils Confer

J Inherit Metab Dis. 2022 May; 45(3): 456–469. Published online 2022 Mar 3. doi: 10.1002/jimd.12488

PMCID:: PMC9313850

Abstract Article PDF–2.0M

Select item 70261843.

A truncating Aspm allele leads to a complex cognitive phenotype and region-specific reductions in parvalbuminergic neurons

Lillian Garrett, Yoon Jeung Chang, Kristina M. Niedermeier, Tamara Heermann, Wolfgang Enard, Helmut Fuchs, Valerie Gailus-Durner, Martin Hrabě de Angelis, Wieland B. Huttner, Wolfgang Wurst, Sabine M. Hölter

Transl Psychiatry. 2020; 10: 66. Published online 2020 Feb 13. doi: 10.1038/s41398-020-0686-0

PMCID:: PMC7026184

Abstract Article PDF–1.2M

Select item 61505484.

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

Abstract Article PDF–721K

Select item 60742015.

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

Abstract Article PDF–1.2M

Select item 58039956.

Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome

Raneem Habib, Heidemarie Neitzel, Aurelie Ernst, John K. L. Wong, Bozenna Goryluk-Kozakiewicz, Antje Gerlach, Ilja Demuth, Karl Sperling, Krystyna Chrzanowska

Mol Cytogenet. 2018; 11: 17. Published online 2018 Feb 7. doi: 10.1186/s13039-018-0364-6

PMCID:: PMC5803995

Abstract Article PDF–1.0M

Select item 53663297.

Electron Microscopy Structural Insights into CPAP Oligomeric Behavior: A Plausible Assembly Process of a Supramolecular Scaffold of the Centrosome

Ana L. Alvarez-Cabrera, Sandra Delgado, David Gil-Carton, Gulnahar B. Mortuza, Guillermo Montoya, Carlos O. S. Sorzano, Tang K. Tang, Jose M. Carazo

Front Mol Biosci. 2017; 4: 17. Published online 2017 Mar 27. doi: 10.3389/fmolb.2017.00017

PMCID:: PMC5366329

Abstract Article PDF–2.7M

Select item 50483798.

ASPM and CITK regulate spindle orientation by affecting the dynamics of astral microtubules

Marta Gai, Federico T Bianchi, Cristiana Vagnoni, Fiammetta Vernì, Silvia Bonaccorsi, Selina Pasquero, Gaia E Berto, Francesco Sgrò, Alessandra MA Chiotto, Laura Annaratone, Anna Sapino, Anna Bergo, Nicoletta Landsberger, Jacqueline Bond, Wieland B Huttner, Ferdinando Di Cunto

EMBO Rep. 2016 Oct; 17(10): 1396–1409. Published online 2016 Aug 25. doi: 10.15252/embr.201541823

Correction in:: EMBO Rep. 2017 Oct; 18(10): 1870.

PMCID:: PMC5048379

Abstract Article PDF–4.1M

Select item 35098539.

Identification of Mutations and Evaluation of Cardiomyopathy in Turkish Patients with Primary Carnitine Deficiency

M. Kilic, R. K. Özgül, T. Coşkun, D. Yücel, M. Karaca, H. S. Sivri, A. Tokatli, M. Şahin, T. Karagöz, A. Dursun

JIMD Rep. 2012; 3: 17–23. Published online 2011 Sep 22. doi: 10.1007/8904_2011_36

PMCID:: PMC3509853

Abstract Article PDF–186K

Select item 23235210.

Nijmegen breakage syndrome cells fail to induce the p53-mediated DNA damage response following exposure to ionizing radiation.

W Jongmans, M Vuillaume, K Chrzanowska, D Smeets, K Sperling, J Hall

Mol Cell Biol. 1997 Sep; 17(9): 5016–5022. doi: 10.1128/mcb.17.9.5016

PMCID:: PMC232352

Summary PDF–559K

Select item 363919511.

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

Abstract Article PDF–2.0M

Select item 312355112.

Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

Saqib Mahmood, Wasim Ahmad, Muhammad J Hassan

Orphanet J Rare Dis. 2011; 6: 39. Published online 2011 Jun 13. doi: 10.1186/1750-1172-6-39

PMCID:: PMC3123551

Abstract Article PDF–420K

Select item 809174513.

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 686515114.

Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH)

Muhammad Naveed, Syeda Khushbakht Kazmi, Mariyam Amin, Zainab Asif, Ushna Islam, Kinza Shahid, Sana Tehreem

Genet Res (Camb) 2018; 100: e7. Published online 2018 Aug 8. doi: 10.1017/S0016672318000046

PMCID:: PMC6865151

Abstract Article PDF–564K

Select item 497411015.

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