Badii R - Search Results

1

Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss.

Girotto G, Abdulhadi K, Buniello A, Vozzi D, Licastro D, d'Eustacchio A, Vuckovic D, Alkowari MK, Steel KP, Badii R, Gasparini P. Girotto G, et al. Among authors: badii r. PLoS One. 2013 Dec 2;8(12):e80323. doi: 10.1371/journal.pone.0080323. eCollection 2013. PLoS One. 2013. PMID: 24312468 Free PMC article. Clinical Trial.

2

Neuronal ceroid lipofuscinosis in Qatar: report of a novel mutation in ceroid-lipofuscinosis, neuronal 5 in the Arab population.

Al-Kowari MK, Hassan S, El-Said MF, Ben-Omran T, Hedin L, Mole SE, Badii R. Al-Kowari MK, et al. Among authors: badii r. J Child Neurol. 2011 May;26(5):625-9. doi: 10.1177/0883073810387298. Epub 2011 Mar 29. J Child Neurol. 2011. PMID: 21447811

3

GJB2 and GJB6 genes and the A1555G mitochondrial mutation are only minor causes of nonsyndromic hearing loss in the Qatari population.

Khalifa Alkowari M, Girotto G, Abdulhadi K, Dipresa S, Siam R, Najjar N, Badii R, Gasparini P. Khalifa Alkowari M, et al. Among authors: badii r. Int J Audiol. 2012 Mar;51(3):181-5. doi: 10.3109/14992027.2011.625983. Epub 2011 Nov 21. Int J Audiol. 2012. PMID: 22103400

4

Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients.

Vozzi D, Morgan A, Vuckovic D, D'Eustacchio A, Abdulhadi K, Rubinato E, Badii R, Gasparini P, Girotto G. Vozzi D, et al. Among authors: badii r. Gene. 2014 Jun 1;542(2):209-16. doi: 10.1016/j.gene.2014.03.033. Epub 2014 Mar 20. Gene. 2014. PMID: 24657061

5

Consanguinity and hereditary hearing loss in Qatar.

Girotto G, Mezzavilla M, Abdulhadi K, Vuckovic D, Vozzi D, Khalifa Alkowari M, Gasparini P, Badii R. Girotto G, et al. Among authors: badii r. Hum Hered. 2014;77(1-4):175-82. doi: 10.1159/000360475. Epub 2014 Jul 29. Hum Hered. 2014. PMID: 25060281 Free article. Review.

6

The p.Cys169Tyr variant of connexin 26 is not a polymorphism.

Zonta F, Girotto G, Buratto D, Crispino G, Morgan A, Abdulhadi K, Alkowari M, Badii R, Gasparini P, Mammano F. Zonta F, et al. Among authors: badii r. Hum Mol Genet. 2015 May 1;24(9):2641-8. doi: 10.1093/hmg/ddv026. Epub 2015 Jan 26. Hum Mol Genet. 2015. PMID: 25628337 Free PMC article.

7

Increased rate of deleterious variants in long runs of homozygosity of an inbred population from Qatar.

Mezzavilla M, Vozzi D, Badii R, Alkowari MK, Abdulhadi K, Girotto G, Gasparini P. Mezzavilla M, et al. Among authors: badii r. Hum Hered. 2015;79(1):14-9. doi: 10.1159/000371387. Hum Hered. 2015. PMID: 25720536

8

Genetic testing and genomic analysis: a debate on ethical, social and legal issues in the Arab world with a focus on Qatar.

El Shanti H, Chouchane L, Badii R, Gallouzi IE, Gasparini P. El Shanti H, et al. Among authors: badii r. J Transl Med. 2015 Nov 14;13:358. doi: 10.1186/s12967-015-0720-9. J Transl Med. 2015. PMID: 26572608 Free PMC article. Review.

9

Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families.

Alkowari MK, Vozzi D, Bhagat S, Krishnamoorthy N, Morgan A, Hayder Y, Logendra B, Najjar N, Gandin I, Gasparini P, Badii R, Girotto G, Abdulhadi K. Alkowari MK, et al. Among authors: badii r. Mutat Res. 2017 Aug;800-802:29-36. doi: 10.1016/j.mrfmmm.2017.05.001. Epub 2017 May 4. Mutat Res. 2017. PMID: 28501645

10

Ancestry-related distribution of Runs of homozygosity and functional variants in Qatari population.

Mezzavilla M, Cocca M, Maisano Delser P, Badii R, Abbaszadeh F, Hadi KA, Giorgia G, Gasparini P. Mezzavilla M, et al. Among authors: badii r. BMC Genom Data. 2022 Sep 21;23(1):73. doi: 10.1186/s12863-022-01087-1. BMC Genom Data. 2022. PMID: 36131251 Free PMC article.

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