PMC Articles for MedGen (Select 906798) - 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

Select item 75761502.

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

Marcello Scala, Geok Lin Chua, Cheen Fei Chin, Hessa S. Alsaif, Artem Borovikov, Saima Riazuddin, Sheikh Riazuddin, M. Chiara Manzini, Mariasavina Severino, Alvin Kuk, Hao Fan, Yalda Jamshidi, Mehran Beiraghi Toosi, Mohammad Doosti, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Elena Dadali, Galina Baydakova, Fedor Konovalov, Ekaterina Lozier, Emer O’Connor, Yasser Sabr, Abdullah Alfaifi, Farah Ashrafzadeh, Pasquale Striano, Federico Zara, Fowzan S. Alkuraya, Henry Houlden, Reza Maroofian, David L. Silver

Eur J Hum Genet. 2020 Nov; 28(11): 1509–1519. Published online 2020 Jun 22. doi: 10.1038/s41431-020-0669-x

PMCID:: PMC7576150

Abstract Article PDF–1.4M

Select item 68651513.

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 39165144.

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

Abstract Article PDF–708K

Select item 37283445.

Cep63 and Cep152 Cooperate to Ensure Centriole Duplication

Nicola J. Brown, Marko Marjanović, Jens Lüders, Travis H. Stracker, Vincenzo Costanzo

PLoS One. 2013; 8(7): e69986. Published online 2013 Jul 30. doi: 10.1371/journal.pone.0069986

PMCID:: PMC3728344

Abstract Article PDF–9.3M

Select item 35894256.

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 17349867.

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation

E Roberts, D Hampshire, L Pattison, K Springell, H Jafri, P Corry, J Mannon, Y Rashid, Y Crow, J Bond, C Woods

J Med Genet. 2002 Oct; 39(10): 718–721. doi: 10.1136/jmg.39.10.718

PMCID:: PMC1734986

Summary PDF–133K

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