Puusepp H - Search Results

1

A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia.

Männik K, Parkel S, Palta P, Zilina O, Puusepp H, Esko T, Mägi R, Nõukas M, Veidenberg A, Nelis M, Metspalu A, Remm M, Ounap K, Kurg A. Männik K, et al. Among authors: puusepp h. Eur J Med Genet. 2011 Mar-Apr;54(2):136-43. doi: 10.1016/j.ejmg.2010.11.005. Epub 2010 Nov 26. Eur J Med Genet. 2011. PMID: 21112420

2

Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization.

Patsalis PC, Kousoulidou L, Männik K, Sismani C, Zilina O, Parkel S, Puusepp H, Tõnisson N, Palta P, Remm M, Kurg A. Patsalis PC, et al. Among authors: puusepp h. Eur J Hum Genet. 2007 Feb;15(2):162-72. doi: 10.1038/sj.ejhg.5201738. Epub 2006 Nov 22. Eur J Hum Genet. 2007. PMID: 17119536

3

Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.

Kousoulidou L, Parkel S, Zilina O, Palta P, Puusepp H, Remm M, Turner G, Boyle J, van Bokhoven H, de Brouwer A, Van Esch H, Froyen G, Ropers HH, Chelly J, Moraine C, Gecz J, Kurg A, Patsalis PC. Kousoulidou L, et al. Among authors: puusepp h. Eur J Med Genet. 2007 Nov-Dec;50(6):399-410. doi: 10.1016/j.ejmg.2007.09.001. Epub 2007 Sep 29. Eur J Med Genet. 2007. PMID: 17980689

4

5.9 Mb microdeletion in chromosome band 17q22-q23.2 associated with tracheo-esophageal fistula and conductive hearing loss.

Puusepp H, Zilina O, Teek R, Männik K, Parkel S, Kruustük K, Kuuse K, Kurg A, Ounap K. Puusepp H, et al. Eur J Med Genet. 2009 Jan-Feb;52(1):71-4. doi: 10.1016/j.ejmg.2008.09.006. Epub 2008 Oct 17. Eur J Med Genet. 2009. PMID: 18983945

5

The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.

Puusepp H, Kall K, Salomons GS, Talvik I, Männamaa M, Rein R, Jakobs C, Õunap K. Puusepp H, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S5-11. doi: 10.1007/s10545-008-1063-y. J Inherit Metab Dis. 2010. PMID: 24137762

6

Array-MAPH: a methodology for the detection of locus copy-number changes in complex genomes.

Kousoulidou L, Männik K, Sismani C, Zilina O, Parkel S, Puusepp H, Tõnisson N, Palta P, Remm M, Kurg A, Patsalis PC. Kousoulidou L, et al. Among authors: puusepp h. Nat Protoc. 2008;3(5):849-65. doi: 10.1038/nprot.2008.49. Nat Protoc. 2008. PMID: 18451793

7

Girl with partial Turner syndrome and absence epilepsy.

Puusepp H, Zordania R, Paal M, Bartsch O, Ounap K. Puusepp H, et al. Pediatr Neurol. 2008 Apr;38(4):289-92. doi: 10.1016/j.pediatrneurol.2007.11.008. Pediatr Neurol. 2008. PMID: 18358412

8

Prevalence of the fragile X syndrome among Estonian mentally retarded and the entire children's population.

Puusepp H, Kahre T, Sibul H, Soo V, Lind I, Raukas E, Ounap K. Puusepp H, et al. J Child Neurol. 2008 Dec;23(12):1400-5. doi: 10.1177/0883073808319071. J Child Neurol. 2008. PMID: 19073844

9

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.

Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, Boyle J, Shaw M, Gardner A, Proos A, Puusepp H, Raymond FL, Schwartz CE, Stevenson RE, Turner G, Field M, Walikonis RS, Harvey RJ, Hackett A, Futreal PA, Stratton MR, Gécz J. Shoubridge C, et al. Among authors: puusepp h. Nat Genet. 2010 Jun;42(6):486-8. doi: 10.1038/ng.588. Epub 2010 May 16. Nat Genet. 2010. PMID: 20473311 Free PMC article.

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