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Aberrant gene expression profiles in pluripotent stem cells induced from fibroblasts of a Klinefelter syndrome patient.

Ma Y, Li C, Gu J, Tang F, Li C, Li P, Ping P, Yang S, Li Z, Jin Y.

J Biol Chem. 2012 Nov 9;287(46):38970-9. doi: 10.1074/jbc.M112.380204.


Global transcriptome analysis of peripheral blood identifies the most significantly down-regulated genes associated with metabolism regulation in Klinefelter syndrome.

Huang J, Zhang L, Deng H, Chang L, Liu Q, Liu P.

Mol Reprod Dev. 2015 Jan;82(1):17-25. doi: 10.1002/mrd.22438.


A variant Klinefelter syndrome patient with an XXY/XX/XY karyotype studied by GTG-banding and fluorescence in situ hybridization.

Mark HF, Bai H, Sotomayor E, Mark S, Zolnierz K, Airall E, Sigman M.

Exp Mol Pathol. 1999 Sep;67(1):50-6.


Analysis of human and mouse reprogramming of somatic cells to induced pluripotent stem cells. What is in the plate?

Boué S, Paramonov I, Barrero MJ, Izpisúa Belmonte JC.

PLoS One. 2010 Sep 17;5(9). pii: e12664. doi: 10.1371/journal.pone.0012664.


Generation of stable pluripotent stem cells from NOD mouse tail-tip fibroblasts.

Liu J, Ashton MP, Sumer H, O'Bryan MK, Brodnicki TC, Verma PJ.

Diabetes. 2011 May;60(5):1393-8. doi: 10.2337/db10-1540.


Modeling abnormal early development with induced pluripotent stem cells from aneuploid syndromes.

Li W, Wang X, Fan W, Zhao P, Chan YC, Chen S, Zhang S, Guo X, Zhang Y, Li Y, Cai J, Qin D, Li X, Yang J, Peng T, Zychlinski D, Hoffmann D, Zhang R, Deng K, Ng KM, Menten B, Zhong M, Wu J, Li Z, Chen Y, Schambach A, Tse HF, Pei D, Esteban MA.

Hum Mol Genet. 2012 Jan 1;21(1):32-45. doi: 10.1093/hmg/ddr435.


A man with isochromosome Xq Klinefelter syndrome with lack of height increase and normal androgenization.

Richer CL, Bleau G, Chapdelaine A, Murer-Orlando M, Lemieux N, Cadotte M.

Am J Med Genet. 1989 Jan;32(1):42-4.


Mosaic status in lymphocytes of infertile men with or without Klinefelter syndrome.

Lenz P, Luetjens CM, Kamischke A, Kühnert B, Kennerknecht I, Nieschlag E.

Hum Reprod. 2005 May;20(5):1248-55.


Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome.

Kim KY, Hysolli E, Park IH.

Proc Natl Acad Sci U S A. 2011 Aug 23;108(34):14169-74. doi: 10.1073/pnas.1018979108.


Disease-specific induced pluripotent stem cells: a platform for human disease modeling and drug discovery.

Jang J, Yoo JE, Lee JA, Lee DR, Kim JY, Huh YJ, Kim DS, Park CY, Hwang DY, Kim HS, Kang HC, Kim DW.

Exp Mol Med. 2012 Mar 31;44(3):202-13. doi: 10.3858/emm.2012.44.3.015.


Estimating the quality of reprogrammed cells using ES cell differentiation expression patterns.

Zhang B, Chen B, Wu T, Tan Y, Qiu S, Xuan Z, Zhu X, Chen R.

PLoS One. 2011 Jan 11;6(1):e15336. doi: 10.1371/journal.pone.0015336.


Chromosomal variants in klinefelter syndrome.

Frühmesser A, Kotzot D.

Sex Dev. 2011;5(3):109-23. doi: 10.1159/000327324. Review.


Human germ cell differentiation from fetal- and adult-derived induced pluripotent stem cells.

Panula S, Medrano JV, Kee K, Bergström R, Nguyen HN, Byers B, Wilson KD, Wu JC, Simon C, Hovatta O, Reijo Pera RA.

Hum Mol Genet. 2011 Feb 15;20(4):752-62. doi: 10.1093/hmg/ddq520.


Transcriptome comparison of human neurons generated using induced pluripotent stem cells derived from dental pulp and skin fibroblasts.

Chen J, Lin M, Foxe JJ, Pedrosa E, Hrabovsky A, Carroll R, Zheng D, Lachman HM.

PLoS One. 2013 Oct 3;8(10):e75682. doi: 10.1371/journal.pone.0075682.


Methylation-specific PCR allows for fast diagnosis of X chromosome disomy and reveals skewed inactivation of the X chromosome in men with Klinefelter syndrome.

Mehta A, Malek-Jones M, Bolyakov A, Mielnik A, Schlegel PN, Paduch DA.

J Androl. 2012 Sep-Oct;33(5):955-62.


Epigenomic and transcriptomic signatures of a Klinefelter syndrome (47,XXY) karyotype in the brain.

Viana J, Pidsley R, Troakes C, Spiers H, Wong CC, Al-Sarraj S, Craig I, Schalkwyk L, Mill J.

Epigenetics. 2014 Apr;9(4):587-99. doi: 10.4161/epi.27806.


Gene expression patterns in relation to the clinical phenotype in Klinefelter syndrome.

Zitzmann M, Bongers R, Werler S, Bogdanova N, Wistuba J, Kliesch S, Gromoll J, Tüttelmann F.

J Clin Endocrinol Metab. 2015 Mar;100(3):E518-23. doi: 10.1210/jc.2014-2780.


Human embryonic stem cells as models for aneuploid chromosomal syndromes.

Biancotti JC, Narwani K, Buehler N, Mandefro B, Golan-Lev T, Yanuka O, Clark A, Hill D, Benvenisty N, Lavon N.

Stem Cells. 2010 Sep;28(9):1530-40. doi: 10.1002/stem.483.


Efficient commitment to functional CD34+ progenitor cells from human bone marrow mesenchymal stem-cell-derived induced pluripotent stem cells.

Xu Y, Liu L, Zhang L, Fu S, Hu Y, Wang Y, Fu H, Wu K, Xiao H, Liu S, Yu X, Zheng W, Feng B, Huang H.

PLoS One. 2012;7(4):e34321. doi: 10.1371/journal.pone.0034321. Erratum in: PLoS One. 2012;7(8). doi:10.1371/annotation/ebddb7ce-712c-4f9d-8412-20dc827c30b9.

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