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Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia.
Schlingmann KP, Sassen MC, Weber S, Pechmann U, Kusch K, Pelken L, Lotan D, Syrrou M, Prebble JJ, Cole DE, Metzger DL, Rahman S, Tajima T, Shu SG, Waldegger S, Seyberth HW, Konrad M. Schlingmann KP, et al. Among authors: syrrou m. J Am Soc Nephrol. 2005 Oct;16(10):3061-9. doi: 10.1681/ASN.2004110989. Epub 2005 Aug 17. J Am Soc Nephrol. 2005. PMID: 16107578
The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2.
Nazaryan L, Stefanou EG, Hansen C, Kosyakova N, Bak M, Sharkey FH, Mantziou T, Papanastasiou AD, Velissariou V, Liehr T, Syrrou M, Tommerup N. Nazaryan L, et al. Among authors: syrrou m. Eur J Hum Genet. 2014 Mar;22(3):338-43. doi: 10.1038/ejhg.2013.147. Epub 2013 Jul 17. Eur J Hum Genet. 2014. PMID: 23860044 Free PMC article.
Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population.
Sismani C, Rapti SM, Iliopoulou P, Spring A, Neroutsou R, Lagou M, Robola M, Tsitsopoulos E, Kousoulidou L, Alexandrou A, Papaevripidou I, Theodosiou A, Syrrou M, Fuchs S, Hempel M, Huhle D, Liehr T, Ziegler M, Duesberg M, Velissariou V. Sismani C, et al. Among authors: syrrou m. J Hum Genet. 2020 Sep;65(9):783-795. doi: 10.1038/s10038-020-0769-z. Epub 2020 May 13. J Hum Genet. 2020. PMID: 32398760
Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization.
Papadopoulou Z, Papoulidis I, Sifakis S, Markopoulos G, Vetro A, Vlaikou AM, Ziegler M, Liehr T, Thomaidis L, Zuffardi O, Syrrou M, George K, Manolakos E. Papadopoulou Z, et al. Among authors: syrrou m. Mol Med Rep. 2017 Dec;16(6):8808-8818. doi: 10.3892/mmr.2017.7760. Epub 2017 Oct 10. Mol Med Rep. 2017. PMID: 29039589 Free PMC article. Review.
69 results