Punab M - Search Results

1

Two novel deletions (array CGH findings) in pigment dispersion syndrome.

Mikelsaar R, Molder H, Bartsch O, Punab M. Mikelsaar R, et al. Among authors: punab m. Ophthalmic Genet. 2007 Dec;28(4):216-9. doi: 10.1080/13816810701635269. Ophthalmic Genet. 2007. PMID: 18161622

2

Alpha-1 antitrypsin phenotypes in patients with Klinefelter's syndrome.

Mikelsaar R, Lissitsina J, Ausmees K, Punab M, Korrovits P, Vaidla E. Mikelsaar R, et al. Among authors: punab m. J Genet. 2010 Dec;89(4):485-8. doi: 10.1007/s12041-010-0069-z. J Genet. 2010. PMID: 21273701 Free article. No abstract available.

3

Reciprocal translocation t(7;16)(q21.2;p13.3) in an infertile man.

Mikelsaar R, Pauklin M, Lissitsina J, Punab M. Mikelsaar R, et al. Among authors: punab m. Fertil Steril. 2006 Sep;86(3):719.e9-11. doi: 10.1016/j.fertnstert.2005.12.079. Fertil Steril. 2006. PMID: 16952514 Free article.

4

Cytogenetic analyses in infertile men.

Lissitsina J, Mikelsaar R, Punab M. Lissitsina J, et al. Among authors: punab m. Arch Androl. 2006 Mar-Apr;52(2):91-5. doi: 10.1080/01485010500316030. Arch Androl. 2006. PMID: 16443584

5

Evolutionary and functional analysis of RBMY1 gene copy number variation on the human Y chromosome.

Shi W, Louzada S, Grigorova M, Massaia A, Arciero E, Kibena L, Ge XJ, Chen Y, Ayub Q, Poolamets O, Tyler-Smith C, Punab M, Laan M, Yang F, Hallast P, Xue Y. Shi W, et al. Among authors: punab m. Hum Mol Genet. 2019 Aug 15;28(16):2785-2798. doi: 10.1093/hmg/ddz101. Hum Mol Genet. 2019. PMID: 31108506 Free PMC article.

6

Chromosomal scan of single sperm cells by combining fluorescence-activated cell sorting and next-generation sequencing.

Tran QT, Jatsenko T, Poolamets O, Tšuiko O, Lubenets D, Reimand T, Punab M, Peters M, Salumets A. Tran QT, et al. Among authors: punab m. J Assist Reprod Genet. 2019 Jan;36(1):91-97. doi: 10.1007/s10815-018-1340-0. Epub 2018 Nov 9. J Assist Reprod Genet. 2019. PMID: 30411275 Free PMC article.

7

Cytogenetic and molecular characterization of the derivative Y chromosome: a case study of an azoospermic patient.

Roovere T, Peters M, Horelli-Kuitunen N, Mölter-Väär T, Punab M, Rootsi S, Poolamets O, Salumets A. Roovere T, et al. Among authors: punab m. Clin Genet. 2007 Nov;72(5):460-3. doi: 10.1111/j.1399-0004.2007.00885.x. Clin Genet. 2007. PMID: 17935509

8

Translational aspects of novel findings in genetics of male infertility-status quo 2021.

Laan M, Kasak L, Punab M. Laan M, et al. Among authors: punab m. Br Med Bull. 2021 Dec 16;140(1):5-22. doi: 10.1093/bmb/ldab025. Br Med Bull. 2021. PMID: 34755838 Free PMC article. Review.

9

Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia.

Kasak L, Punab M, Nagirnaja L, Grigorova M, Minajeva A, Lopes AM, Punab AM, Aston KI, Carvalho F, Laasik E, Smith LB; GEMINI Consortium; Conrad DF, Laan M. Kasak L, et al. Among authors: punab am, punab m. Am J Hum Genet. 2018 Aug 2;103(2):200-212. doi: 10.1016/j.ajhg.2018.07.005. Am J Hum Genet. 2018. PMID: 30075111 Free PMC article.

10

Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure.

Hardy JJ, Wyrwoll MJ, Mcfadden W, Malcher A, Rotte N, Pollock NC, Munyoki S, Veroli MV, Houston BJ, Xavier MJ, Kasak L, Punab M, Laan M, Kliesch S, Schlegel P, Jaffe T, Hwang K, Vukina J, Brieño-Enríquez MA, Orwig K, Yanowitz J, Buszczak M, Veltman JA, Oud M, Nagirnaja L, Olszewska M, O'Bryan MK, Conrad DF, Kurpisz M, Tüttelmann F, Yatsenko AN; GEMINI Consortium. Hardy JJ, et al. Among authors: punab m. Hum Genet. 2021 Aug;140(8):1169-1182. doi: 10.1007/s00439-021-02287-y. Epub 2021 May 7. Hum Genet. 2021. PMID: 33963445 Free PMC article.

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