PubMed for id: 767413

Year	Number of Results
2001	1
2002	1
2003	1
2004	2
2005	2
2006	2
2009	1
2010	1
2011	2
2012	1
2013	4
2014	3
2015	2
2016	8
2017	2
2019	1
2020	2
2021	3
2022	4
2023	2
2024	0

1

Genetic susceptibility of vitamin D receptor gene polymorphisms on autosomal recessive primary microcephaly patients in Pakistani population: a case-control and in-silico study.

Aslam K, Anjum I, Aslam K, Haq R, Bashir R. Aslam K, et al. Mol Biol Rep. 2023 Oct;50(10):8049-8059. doi: 10.1007/s11033-023-08681-1. Epub 2023 Aug 4. Mol Biol Rep. 2023. PMID: 37541996

2

Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly.

Sabbagh Q, Tharreau M, Cenni C, Sanchez E, Ruiz-Pallares N, Alkar F, Amouroux C, David S, Prodhomme O, Leboucq N, Meunier I, Bessis D, Theron A, Barat-Houari M, Willems M. Sabbagh Q, et al. Eur J Med Genet. 2023 May;66(5):104733. doi: 10.1016/j.ejmg.2023.104733. Epub 2023 Feb 25. Eur J Med Genet. 2023. PMID: 36842471

3

Loss of abnormal spindle-like, microcephaly-associated (Aspm) disrupts female folliculogenesis in mice during maturation and aging.

Mori M, Tando S, Ogi H, Tonosaki M, Yaoi T, Fujimori A, Itoh K. Mori M, et al. Reprod Biol. 2022 Sep;22(3):100673. doi: 10.1016/j.repbio.2022.100673. Epub 2022 Jul 25. Reprod Biol. 2022. PMID: 35901620

4

Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome.

Zorn M, Kühnisch J, Bachmann S, Seifert W. Zorn M, et al. Sci Rep. 2022 Jun 11;12(1):9686. doi: 10.1038/s41598-022-13717-w. Sci Rep. 2022. PMID: 35690661 Free PMC article.

5

Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.

Gönenc II, Elcioglu NH, Martinez Grijalva C, Aras S, Großmann N, Praulich I, Altmüller J, Kaulfuß S, Li Y, Nürnberg P, Burfeind P, Yigit G, Wollnik B. Gönenc II, et al. Clin Genet. 2022 May;101(5-6):559-564. doi: 10.1111/cge.14125. Epub 2022 Mar 11. Clin Genet. 2022. PMID: 35218564

6

Primary and Secondary Microcephaly, Global Developmental Delay, and Seizure in Two Siblings Caused by a Novel Missense Variant in the ZNF335 Gene.

Tavasoli AR, Memar EHE, Ashrafi MR, Hosseini SMM, Haghighi R, Ghabeli H, Pourbakhtyaran E, Rasoulinezhad M, Mohammadi P, Heidari M. Tavasoli AR, et al. J Mol Neurosci. 2022 Apr;72(4):719-729. doi: 10.1007/s12031-021-01955-y. Epub 2022 Jan 4. J Mol Neurosci. 2022. PMID: 34982360

7

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.

Waseem SS, Moawia A, Budde B, Tariq M, Khan A, Ali Z, Khan S, Iqbal M, Malik NA, Haque SU, Altmüller J, Thiele H, Hussain MS, Cirak S, Baig SM, Nürnberg P. Waseem SS, et al. Genes (Basel). 2021 Sep 24;12(10):1494. doi: 10.3390/genes12101494. Genes (Basel). 2021. PMID: 34680889 Free PMC article.

8

MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease.

Khuller K, Yigit G, Martínez Grijalva C, Altmüller J, Thiele H, Nürnberg P, Elcioglu NH, Yeter B, Hehr U, Stein A, Della Marina A, Köninger A, Depienne C, Kaiser FJ, Wollnik B, Kuechler A. Khuller K, et al. Eur J Med Genet. 2021 Oct;64(10):104310. doi: 10.1016/j.ejmg.2021.104310. Epub 2021 Aug 13. Eur J Med Genet. 2021. PMID: 34400370

9

Novel Pathogenic Mutation Mapping of ASPM Gene in Consanguineous Pakistani Families with Primary Microcephaly.

Batool T, Irshad S, Mahmood K. Batool T, et al. Braz J Biol. 2021 Aug 6;83:e246040. doi: 10.1590/1519-6984.246040. eCollection 2021. Braz J Biol. 2021. PMID: 34378666 Free article.

10

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.

Rasool S, Baig JM, Moawia A, Ahmad I, Iqbal M, Waseem SS, Asif M, Abdullah U, Makhdoom EUH, Kaygusuz E, Zakaria M, Ramzan S, Haque SU, Mir A, Anjum I, Fiaz M, Ali Z, Tariq M, Saba N, Hussain W, Budde B, Irshad S, Noegel AA, Höning S, Baig SM, Nürnberg P, Hussain MS. Rasool S, et al. Mol Genet Genomic Med. 2020 Sep;8(9):e1408. doi: 10.1002/mgg3.1408. Epub 2020 Jul 17. Mol Genet Genomic Med. 2020. PMID: 32677750 Free PMC article.

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