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Page 1
Urinary tract effects of HPSE2 mutations.
Stuart HM, Roberts NA, Hilton EN, McKenzie EA, Daly SB, Hadfield KD, Rahal JS, Gardiner NJ, Tanley SW, Lewis MA, Sites E, Angle B, Alves C, Lourenço T, Rodrigues M, Calado A, Amado M, Guerreiro N, Serras I, Beetz C, Varga RE, Silay MS, Darlow JM, Dobson MG, Barton DE, Hunziker M, Puri P, Feather SA, Goodship JA, Goodship TH, Lambert HJ, Cordell HJ; UK VUR Study Group; Saggar A, Kinali M; 4C Study Group; Lorenz C, Moeller K, Schaefer F, Bayazit AK, Weber S, Newman WG, Woolf AS. Stuart HM, et al. Among authors: kinali m. J Am Soc Nephrol. 2015 Apr;26(4):797-804. doi: 10.1681/ASN.2013090961. Epub 2014 Aug 21. J Am Soc Nephrol. 2015. PMID: 25145936 Free PMC article.
Zellweger syndrome and secondary mitochondrial myopathy.
Salpietro V, Phadke R, Saggar A, Hargreaves IP, Yates R, Fokoloros C, Mankad K, Hertecant J, Ruggieri M, McCormick D, Kinali M. Salpietro V, et al. Among authors: kinali m. Eur J Pediatr. 2015 Apr;174(4):557-63. doi: 10.1007/s00431-014-2431-2. Epub 2014 Oct 7. Eur J Pediatr. 2015. PMID: 25287621 Review.
Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome.
Steel D, Salpietro V, Phadke R, Pitt M, Gentile G, Massoud A, Batten L, Bashamboo A, Mcelreavey K, Saggar A, Kinali M. Steel D, et al. Among authors: kinali m. J Genet. 2015 Dec;94(4):755-8. doi: 10.1007/s12041-015-0578-x. J Genet. 2015. PMID: 26690532 Free article. No abstract available.
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.
Pavlidou E, Salpietro V, Phadke R, Hargreaves IP, Batten L, McElreavy K, Pitt M, Mankad K, Wilson C, Cutrupi MC, Ruggieri M, McCormick D, Saggar A, Kinali M. Pavlidou E, et al. Among authors: kinali m. Eur J Paediatr Neurol. 2016 May;20(3):483-8. doi: 10.1016/j.ejpn.2015.12.016. Epub 2016 Jan 11. Eur J Paediatr Neurol. 2016. PMID: 26805434
Delineation of the movement disorders associated with FOXG1 mutations.
Papandreou A, Schneider RB, Augustine EF, Ng J, Mankad K, Meyer E, McTague A, Ngoh A, Hemingway C, Robinson R, Varadkar SM, Kinali M, Salpietro V, O'Driscoll MC, Basheer SN, Webster RI, Mohammad SS, Pula S, McGowan M, Trump N, Jenkins L, Elmslie F, Scott RH, Hurst JA, Perez-Duenas B, Paciorkowski AR, Kurian MA. Papandreou A, et al. Among authors: kinali m. Neurology. 2016 May 10;86(19):1794-800. doi: 10.1212/WNL.0000000000002585. Epub 2016 Mar 30. Neurology. 2016. PMID: 27029630 Free PMC article.
Chitayat-Hall syndrome: extending the clinical phenotype.
Rao V, El-Alem T, Aminu K, Mankad K, Cowan F, Holder SE, Kinali M. Rao V, et al. Among authors: kinali m. Clin Dysmorphol. 2013 Oct;22(4):156-160. doi: 10.1097/MCD.0000000000000006. Clin Dysmorphol. 2013. PMID: 24326959 No abstract available.
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