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Quantification of the Leydig cell compartment in testicular biopsies and association with biochemical Leydig cell dysfunction in testicular cancer survivors.

Tarsitano MG, Bandak M, Jørgensen N, Skakkebaek NE, Juul A, Lenzi A, Daugaard G, Rajpert-De Meyts E.

Andrology. 2018 Jul 6. doi: 10.1111/andr.12508. [Epub ahead of print]


Transcriptome analysis of the adult human Klinefelter testis and cellularity-matched controls reveals disturbed differentiation of Sertoli- and Leydig cells.

Winge SB, Dalgaard MD, Belling KG, Jensen JM, Nielsen JE, Aksglaede L, Schierup MH, Brunak S, Skakkebæk NE, Juul A, Rajpert-De Meyts E, Almstrup K.

Cell Death Dis. 2018 May 22;9(6):586. doi: 10.1038/s41419-018-0671-1.


Complex Polygenic Nature of Testicular Germ Cell Cancer Suggests Multifactorial Aetiology.

Rajpert-De Meyts E, Skotheim RI.

Eur Urol. 2018 Jun;73(6):832-833. doi: 10.1016/j.eururo.2018.02.023. Epub 2018 Mar 9. No abstract available.


Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.

Bashamboo A, Eozenou C, Jorgensen A, Bignon-Topalovic J, Siffroi JP, Hyon C, Tar A, Nagy P, Sólyom J, Halász Z, Paye-Jaouen A, Lambert S, Rodriguez-Buritica D, Bertalan R, Martinerie L, Rajpert-De Meyts E, Achermann JC, McElreavey K.

Am J Hum Genet. 2018 Mar 1;102(3):487-493. doi: 10.1016/j.ajhg.2018.01.021. Epub 2018 Feb 22.


Deletion in the uridine diphosphate glucuronyltransferase 2B17 gene is associated with delayed pubarche in healthy boys.

Mouritsen A, Busch AS, Aksglaede L, Rajpert-De Meyts E, Juul A.

Endocr Connect. 2018 Mar;7(3):460-465. doi: 10.1530/EC-18-0080. Epub 2018 Feb 21.


Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

Portnoi MF, Dumargne MC, Rojo S, Witchel SF, Duncan AJ, Eozenou C, Bignon-Topalovic J, Yatsenko SA, Rajkovic A, Reyes-Mugica M, Almstrup K, Fusee L, Srivastava Y, Chantot-Bastaraud S, Hyon C, Louis-Sylvestre C, Validire P, de Malleray Pichard C, Ravel C, Christin-Maitre S, Brauner R, Rossetti R, Persani L, Charreau EH, Dain L, Chiauzzi VA, Mazen I, Rouba H, Schluth-Bolard C, MacGowan S, McLean WHI, Patin E, Rajpert-De Meyts E, Jauch R, Achermann JC, Siffroi JP, McElreavey K, Bashamboo A.

Hum Mol Genet. 2018 Apr 1;27(7):1228-1240. doi: 10.1093/hmg/ddy037.


Corrigendum to "Biglycan is a novel binding partner of fibroblast growth factor receptor 3c (FGFR3c) in the human testis" [Mol. Cell Endocrinol.] 399 (2015) 235-243.

Winge SB, Nielsen J, Jorgensen A, Owczarek S, Ewen KA, Nielsen JE, Juul A, Berezin V, Rajpert-De Meyts E.

Mol Cell Endocrinol. 2018 Jan 15;460:258. doi: 10.1016/j.mce.2017.12.001. No abstract available.


Polymorphisms in JMJD1C are associated with pubertal onset in boys and reproductive function in men.

Mørup N, Busch AS, Bang AK, Nordkap L, Nielsen JE, Rajpert-De Meyts E, Juul A, Jørgensen N, Almstrup K.

Sci Rep. 2017 Dec 8;7(1):17242. doi: 10.1038/s41598-017-17575-9.


Transcriptome profiling of fetal Klinefelter testis tissue reveals a possible involvement of long non-coding RNAs in gonocyte maturation.

Winge SB, Dalgaard MD, Jensen JM, Graem N, Schierup MH, Juul A, Rajpert-De Meyts E, Almstrup K.

Hum Mol Genet. 2018 Feb 1;27(3):430-439. doi: 10.1093/hmg/ddx411.


Is the FSHR 2039A>G variant associated with susceptibility to testicular germ cell cancer?

Bang AK, Busch AS, Almstrup K, Gromoll J, Kliesch S, Rajpert-De Meyts E, Skakkebaek NE, Juul A, Tüttelmann F, Jørgensen N.

Andrology. 2018 Jan;6(1):176-183. doi: 10.1111/andr.12440. Epub 2017 Nov 27.


Germ Cell Neoplasia in Situ and Preserved Fertility Despite Suppressed Gonadotropins in a Patient With Testotoxicosis.

Juel Mortensen L, Blomberg Jensen M, Christiansen P, Rønholt AM, Jørgensen A, Frederiksen H, Nielsen JE, Loya AC, Grønkær Toft B, Skakkebæk NE, Rajpert-De Meyts E, Juul A.

J Clin Endocrinol Metab. 2017 Dec 1;102(12):4411-4416. doi: 10.1210/jc.2017-01761.


Possible involvement of the glucocorticoid receptor (NR3C1) and selected NR3C1 gene variants in regulation of human testicular function.

Nordkap L, Almstrup K, Nielsen JE, Bang AK, Priskorn L, Krause M, Holmboe SA, Winge SB, Egeberg Palme DL, Mørup N, Petersen JH, Juul A, Skakkebaek NE, Rajpert-De Meyts E, Jørgensen N.

Andrology. 2017 Nov;5(6):1105-1114. doi: 10.1111/andr.12418. Epub 2017 Oct 9.


Factor V Leiden is associated with increased sperm count.

van Mens TE, Joensen UN, Bochdanovits Z, Takizawa A, Peter J, Jørgensen N, Szecsi PB, Meijers JCM, Weiler H, Rajpert-De Meyts E, Repping S, Middeldorp S.

Hum Reprod. 2017 Nov 1;32(11):2332-2339. doi: 10.1093/humrep/dex287.


Short stature homeobox-containing gene duplications in 3.7% of girls with tall stature and normal karyotypes.

Upners EN, Jensen RB, Rajpert-De Meyts E, Dunø M, Aksglaede L, Juul A.

Acta Paediatr. 2017 Oct;106(10):1651-1657. doi: 10.1111/apa.13969. Epub 2017 Jul 20.


Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor.

Wang Z, McGlynn KA, Rajpert-De Meyts E, Bishop DT, Chung CC, Dalgaard MD, Greene MH, Gupta R, Grotmol T, Haugen TB, Karlsson R, Litchfield K, Mitra N, Nielsen K, Pyle LC, Schwartz SM, Thorsson V, Vardhanabhuti S, Wiklund F, Turnbull C, Chanock SJ, Kanetsky PA, Nathanson KL; Testicular Cancer Consortium.

Nat Genet. 2017 Jul;49(7):1141-1147. doi: 10.1038/ng.3879. Epub 2017 Jun 12.


Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.

Giannoulatou E, Maher GJ, Ding Z, Gillis AJM, Dorssers LCJ, Hoischen A, Rajpert-De Meyts E; WGS500 Consortium, McVean G, Wilkie AOM, Looijenga LHJ, Goriely A.

PLoS One. 2017 May 22;12(5):e0178169. doi: 10.1371/journal.pone.0178169. eCollection 2017.


Involvement of the DNA mismatch repair system in cisplatin sensitivity of testicular germ cell tumours.

Rudolph C, Melau C, Nielsen JE, Vile Jensen K, Liu D, Pena-Diaz J, Rajpert-De Meyts E, Rasmussen LJ, Jørgensen A.

Cell Oncol (Dordr). 2017 Aug;40(4):341-355. doi: 10.1007/s13402-017-0326-8. Epub 2017 May 23.


Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity.

Belling K, Russo F, Jensen AB, Dalgaard MD, Westergaard D, Rajpert-De Meyts E, Skakkebæk NE, Juul A, Brunak S.

Hum Mol Genet. 2017 Apr 1;26(7):1219-1229. doi: 10.1093/hmg/ddx014.


Comparison of global gene expression profiles of microdissected human foetal Leydig cells with their normal and hyperplastic adult equivalents.

Lottrup G, Belling K, Leffers H, Nielsen JE, Dalgaard MD, Juul A, Skakkebæk NE, Brunak S, Rajpert-De Meyts E.

Mol Hum Reprod. 2017 May 1;23(5):339-354. doi: 10.1093/molehr/gax012.


Leydig cell clustering and Reinke crystal distribution in relation to hormonal function in adult patients with testicular dysgenesis syndrome (TDS) including cryptorchidism.

Soerensen RR, Johannsen TH, Skakkebaek NE, Rajpert-De Meyts E.

Hormones (Athens). 2016 Oct;15(4):518-526. doi: 10.14310/horm.2002.1708.

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