Tommerup N - Search Results

1

Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families.

Fatima A, Abdullah U, Farooq M, Mang Y, Mehrjouy MM, Asif M, Ali Z, Tommerup N, Baig SM. Fatima A, et al. Among authors: tommerup n. Genes (Basel). 2021 Nov 26;12(12):1899. doi: 10.3390/genes12121899. Genes (Basel). 2021. PMID: 34946848 Free PMC article.

2

A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family.

Farooq M, Fatima A, Mang Y, Hansen L, Kjaer KW, Baig SM, Larsen LA, Tommerup N. Farooq M, et al. Among authors: tommerup n. J Hum Genet. 2016 Mar;61(3):271-3. doi: 10.1038/jhg.2015.138. Epub 2015 Dec 10. J Hum Genet. 2016. PMID: 26657937 No abstract available.

3

A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family.

Abdullah U, Farooq M, Mang Y, Marriam Bakhtiar S, Fatima A, Hansen L, Kjaer KW, Larsen LA, Faryal S, Tommerup N, Mahmood Baig S. Abdullah U, et al. Among authors: tommerup n. Eur J Med Genet. 2017 Dec;60(12):627-630. doi: 10.1016/j.ejmg.2017.07.017. Epub 2017 Aug 2. Eur J Med Genet. 2017. PMID: 28778786

4

Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis.

Abdullah U, Farooq M, Fatima A, Tauseef W, Sarwar Y, Nuri M, Tommerup N, Baig SM. Abdullah U, et al. Among authors: tommerup n. Nephrology (Carlton). 2017 Oct;22(10):818-820. doi: 10.1111/nep.13097. Nephrology (Carlton). 2017. PMID: 28921755 Review.

5

Genome-Wide Supported Risk Variants in MIR137, CACNA1C, CSMD1, DRD2, and GRM3 Contribute to Schizophrenia Susceptibility in Pakistani Population.

Fatima A, Farooq M, Abdullah U, Tariq M, Mustafa T, Iqbal M, Tommerup N, Mahmood Baig S. Fatima A, et al. Among authors: tommerup n. Psychiatry Investig. 2017 Sep;14(5):687-692. doi: 10.4306/pi.2017.14.5.687. Epub 2017 Sep 11. Psychiatry Investig. 2017. PMID: 29042896 Free PMC article.

6

A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.

Sher M, Farooq M, Abdullah U, Ali Z, Faryal S, Zakaria M, Ullah F, Bukhari H, Møller RS, Tommerup N, Baig SM. Sher M, et al. Among authors: tommerup n. Int J Neurosci. 2019 Sep;129(9):890-895. doi: 10.1080/00207454.2019.1586686. Epub 2019 Mar 20. Int J Neurosci. 2019. PMID: 30892110

7

A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review.

Faryal S, Farooq M, Abdullah U, Ali Z, Saadi SM, Ullah F, Khan K, Sarwar Y, Sher M, Chopra AA, Tommerup N, Baig SM. Faryal S, et al. Among authors: tommerup n. Eur J Med Genet. 2021 Jul;64(7):104226. doi: 10.1016/j.ejmg.2021.104226. Epub 2021 Apr 16. Eur J Med Genet. 2021. PMID: 33872773 Review.

8

A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family.

Anjum I, Eiberg H, Baig SM, Tommerup N, Hansen L. Anjum I, et al. Among authors: tommerup n. Mol Vis. 2010 Mar 30;16:549-55. Mol Vis. 2010. PMID: 20361012 Free PMC article.

9

RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis.

Farooq M, Lindbæk L, Krogh N, Doganli C, Keller C, Mönnich M, Gonçalves AB, Sakthivel S, Mang Y, Fatima A, Andersen VS, Hussain MS, Eiberg H, Hansen L, Kjaer KW, Gopalakrishnan J, Pedersen LB, Møllgård K, Nielsen H, Baig SM, Tommerup N, Christensen ST, Larsen LA. Farooq M, et al. Among authors: tommerup n. Nat Commun. 2020 Nov 16;11(1):5816. doi: 10.1038/s41467-020-19658-0. Nat Commun. 2020. PMID: 33199730 Free PMC article.

10

Genetic heterogeneity in Pakistani microcephaly families.

Sajid Hussain M, Marriam Bakhtiar S, Farooq M, Anjum I, Janzen E, Reza Toliat M, Eiberg H, Kjaer KW, Tommerup N, Noegel AA, Nürnberg P, Baig SM, Hansen L. Sajid Hussain M, et al. Among authors: tommerup n. Clin Genet. 2013 May;83(5):446-51. doi: 10.1111/j.1399-0004.2012.01932.x. Epub 2012 Aug 7. Clin Genet. 2013. PMID: 22775483

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