Farooq M - Search Results

1

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

Møller RS, Larsen LH, Johannesen KM, Talvik I, Talvik T, Vaher U, Miranda MJ, Farooq M, Nielsen JE, Svendsen LL, Kjelgaard DB, Linnet KM, Hao Q, Uldall P, Frangu M, Tommerup N, Baig SM, Abdullah U, Born AP, Gellert P, Nikanorova M, Olofsson K, Jepsen B, Marjanovic D, Al-Zehhawi LI, Peñalva SJ, Krag-Olsen B, Brusgaard K, Hjalgrim H, Rubboli G, Pal DK, Dahl HA. Møller RS, et al. Among authors: farooq m. Mol Syndromol. 2016 Sep;7(4):210-219. doi: 10.1159/000448369. Epub 2016 Aug 20. Mol Syndromol. 2016. PMID: 27781031 Free PMC article.

2

Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1.

Farooq M, Baig S, Tommerup N, Kjaer KW. Farooq M, et al. Am J Med Genet A. 2010 Feb;152A(2):495-7. doi: 10.1002/ajmg.a.33234. Am J Med Genet A. 2010. PMID: 20101680 No abstract available.

3

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: farooq m. Nephrology (Carlton). 2017 Oct;22(10):818-820. doi: 10.1111/nep.13097. Nephrology (Carlton). 2017. PMID: 28921755 Review.

4

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: farooq m. 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

5

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. 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.

6

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: farooq m. 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.

7

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: farooq m. Genes (Basel). 2021 Nov 26;12(12):1899. doi: 10.3390/genes12121899. Genes (Basel). 2021. PMID: 34946848 Free PMC article.

8

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: farooq m. 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.

9

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: farooq m. 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

10

Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS.

Farooq M, Troelsen JT, Boyd M, Eiberg H, Hansen L, Hussain MS, Rehman Su, Azhar A, Ali A, Bakhtiar SM, Tommerup N, Baig SM, Kjaer KW. Farooq M, et al. Eur J Hum Genet. 2010 Jun;18(6):733-6. doi: 10.1038/ejhg.2009.225. Epub 2010 Jan 13. Eur J Hum Genet. 2010. PMID: 20068592 Free PMC article.

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