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Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study
Author / Creator:Berglund, Agnethe ; Viuff, Mette Hansen ; Skakkebæk, Anne ; Chang, Simon ; Stochholm, Kirstine ; Gravholt, Claus Højbjerg
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2019-01, Vol.14 (1), p.16-16, Article 16
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Dosage of the pseudoautosomal gene SLC25A6 is implicated in QTc interval duration
Author / Creator:Skakkebæk, Anne ; Kjær-Sørensen, Kasper ; Matchkov, Vladimir V. ; Christensen, Lise-Lotte ; Just, Jesper ; Cömert, Cagla ; Andersen, Niels Holmark ; Oxvig, Claus ; Gravholt, Claus Højbjerg
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2023-07, Vol.13 (1), p.12089-10, Article 12089
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X chromosome dosage and the genetic impact across human tissues
Author / Creator:Viuff, Mette ; Skakkebæk, Anne ; Johannsen, Emma B ; Chang, Simon ; Pedersen, Steen Bønlykke ; Lauritsen, Katrine Meyer ; Pedersen, Mette Glavind Bülow ; Trolle, Christian ; Just, Jesper ; Gravholt, Claus H
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2023-03, Vol.15 (1), p.21-21, Article 21
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Anxiety and depression in Klinefelter syndrome: The impact of personality and social engagement
Author / Creator:Skakkebæk, Anne ; Moore, Philip J ; Pedersen, Anders Degn ; Bojesen, Anders ; Kristensen, Maria Krarup ; Fedder, Jens ; Hertz, Jens Michael ; Østergaard, John R ; Wallentin, Mikkel ; Gravholt, Claus Højbjerg
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-11, Vol.13 (11), p.e0206932-e0206932
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Epigenetic and transcriptomic alterations in offspring born to women with type 1 diabetes (the EPICOM study)
Author / Creator:Knorr, Sine ; Skakkebæk, Anne ; Just, Jesper ; Johannsen, Emma B. ; Trolle, Christian ; Vang, Søren ; Lohse, Zuzana ; Bytoft, Birgitte ; Damm, Peter ; Højlund, Kurt ; Jensen, Dorte M. ; Gravholt, Claus H.
Publisher:London: BioMed Central Ltd
Journal title:BMC medicine, 2022-09, Vol.20 (1), p.1-338, Article 338
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Integration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y chromosome segment lengths in phenotypic males with 46,XX testicular disorder/difference of sex deve...
Author / Creator:Berglund, Agnethe ; Johannsen, Emma B ; Skakkebæk, Anne ; Chang, Simon ; Rohayem, Julia ; Laurentino, Sandra ; Hørlyck, Arne ; Drue, Simon O ; Bak, Ebbe Norskov ; Fedder, Jens ; Tüttelmann, Frank ; Gromoll, Jörg ; Just, Jesper ; Gravholt, Claus H
Publisher:England: BioMed Central Ltd
Journal title:Biology of sex differences, 2024-10, Vol.15 (1), p.77-16, Article 77
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Elevated levels of neutrophils with a pro-inflammatory profile in Turner syndrome across karyotypes
Author / Creator:Just, Jesper ; Ridder, Lukas Ochsner Reynaud ; Johannsen, Emma Bruun ; Jensen, Jens Magnus Bernth ; Petersen, Mikkel Steen ; Christensen, Helene Viborg ; Kjærgaard, Kenneth ; Redder, Jacob ; Chang, Simon ; Stochholm, Kirstine ; Skakkebæk, Anne ; Gravholt, Claus Højbjerg
Publisher:London: Nature Publishing Group UK
Journal title:Npj genomic medicine, 2025-02, Vol.10 (1), p.9-14, Article 9
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Short QTc Interval in Males with Klinefelter Syndrome-Influence of CAG Repeat Length, Body Composition, and Testosterone Replacement Therapy
Author / Creator:JØRGENSEN, INGER NORLYK ; SKAKKEBÆK, ANNE ; ANDERSEN, NIELS HOLMARK ; PEDERSEN, LISBETH NØRUM ; HOUGAARD, DAVID MICHAEL ; BOJESEN, ANDERS ; TROLLE, CHRISTIAN ; GRAVHOLT, CLAUS HØJBJERG
Publisher:United States: Blackwell Publishing Ltd
Journal title:Pacing and clinical electrophysiology, 2015-04, Vol.38 (4), p.472-482
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Criminality in men with Klinefelter's syndrome and XYY syndrome: a cohort study
Author / Creator:Stochholm, Kirstine ; Bojesen, Anders ; Jensen, Anne Skakkebæk ; Juul, Svend ; Gravholt, Claus Højbjerg
Publisher:England: BMJ Publishing Group LTD
Journal title:BMJ open, 2012-01, Vol.2 (1), p.e000650-e000650
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Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology
Author / Creator:Gravholt, Claus H ; Chang, Simon ; Wallentin, Mikkel ; Fedder, Jens ; Moore, Philip ; Skakkebæk, Anne
Publisher:Washington, DC: Endocrine Society
Journal title:Endocrine reviews, 2018-08, Vol.39 (4), p.389-423
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The Changing Face of Turner Syndrome
Author / Creator:Gravholt, Claus H ; Viuff, Mette ; Just, Jesper ; Sandahl, Kristian ; Brun, Sara ; van der Velden, Janielle ; Andersen, Niels H ; Skakkebaek, Anne
Publisher:US: Oxford University Press
Journal title:Endocrine reviews, 2023-01, Vol.44 (1), p.33-69
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Widespread DNA hypomethylation and differential gene expression in Turner syndrome
Author / Creator:Trolle, Christian ; Nielsen, Morten Muhlig ; Skakkebæk, Anne ; Lamy, Philippe ; Vang, Søren ; Hedegaard, Jakob ; Nordentoft, Iver ; Ørntoft, Torben Falck ; Pedersen, Jakob Skou ; Gravholt, Claus Højbjerg
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2016-09, Vol.6 (1), p.34220-34220, Article 34220
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ArticlesPeer ReviewedFull Text
DNA hypermethylation and differential gene expression associated with Klinefelter syndrome
Author / Creator:Skakkebæk, Anne ; Nielsen, Morten Muhlig ; Trolle, Christian ; Vang, Søren ; Hornshøj, Henrik ; Hedegaard, Jakob ; Wallentin, Mikkel ; Bojesen, Anders ; Hertz, Jens Michael ; Fedder, Jens ; Østergaard, John Rosendahl ; Pedersen, Jakob Skou ; Gravholt, Claus Højbjerg
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2018-09, Vol.8 (1), p.13740-15, Article 13740
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Quality of life in men with Klinefelter syndrome: the impact of genotype, health, socioeconomics, and sexual function
Author / Creator:Skakkebæk, Anne ; Moore, Philip J ; Chang, Simon ; Fedder, Jens ; Gravholt, Claus H
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2018-02, Vol.20 (2), p.214-222
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Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?
Author / Creator:Jensen, Janni M. ; Skakkebæk, Anne ; Gaustadness, Mette ; Sommerlund, Mette ; Gjørup, Hans ; Ljungmann, Ken ; Lautrup, Charlotte K. ; Sunde, Lone
Publisher:Dordrecht: Springer Netherlands
Journal title:Familial cancer, 2022-07, Vol.21 (3), p.325-332
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Evaluation of the Efficacy of Transdermal and Injection Testosterone Therapy in Klinefelter Syndrome: A Real-Life Study
Author / Creator:Kabilan, Apiraa ; Skakkebæk, Anne ; Chang, Simon ; Gravholt, Claus H
Publisher:US: Oxford University Press
Journal title:Journal of the Endocrine Society, 2021-06, Vol.5 (6), p.bvab062-bvab062
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The role of hypogonadism in Klinefelter syndrome
Author / Creator:Høst, Christian ; Skakkebæk, Anne ; Groth, Kristian A ; Bojesen, Anders
Publisher:China: Medknow Publications and Media Pvt. Ltd
Journal title:Asian journal of andrology, 2014-03, Vol.16 (2), p.185-191
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8320 Integration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y-chromosome segment lengths in phenotypic males with 46,XX testicular disorder of sex developmen...
Author / Creator:Johannsen, Emma Bruun ; Berglund, Agnethe ; Skakkebæk, Anne ; Chang, Simon ; Rohayem, Julia ; Laurentino, Sandra ; Hørlyck, Arne ; Drue, Simon Opstrup ; Bak, Ebbe Norskov ; Fedder, Jens ; Tuttelmann, Frank ; Gromoll, Joerg ; Just, Jesper ; Gravholt, Claus Hojbjerg
Publisher:US: Oxford University Press
Journal title:Journal of the Endocrine Society, 2024-10, Vol.8 (Supplement_1)
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ArticlesPeer ReviewedFull Text
8320 Integration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y-chromosome segment lengths in phenotypic males with 46,XX testicular disorder of sex developmen...
Author / Creator:Johannsen, Emma Bruun ; Berglund, Agnethe ; Skakkebæk, Anne ; Chang, Simon ; Rohayem, Julia ; Laurentino, Sandra ; Hørlyck, Arne ; Drue, Simon Opstrup ; Bak, Ebbe Norskov ; Fedder, Jens ; Tuttelmann, Frank ; Gromoll, Joerg ; Just, Jesper ; Gravholt, Claus Hojbjerg
Publisher:US: Oxford University Press
Journal title:Journal of the Endocrine Society, 2024-10, Vol.8 (Supplement_1)
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The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome
Author / Creator:Skakkebæk, Anne ; Moore, Philip J. ; Pedersen, Anders Degn ; Bojesen, Anders ; Kristensen, Maria Krarup ; Fedder, Jens ; Laurberg, Peter ; Hertz, Jens Michael ; Østergaard, John Rosendahl ; Wallentin, Mikkel ; Gravholt, Claus Højbjerg
Publisher:United States: John Wiley & Sons, Inc
Journal title:Brain and behavior, 2017-03, Vol.7 (3), p.e00645-n/a
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Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study

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Dosage of the pseudoautosomal gene SLC25A6 is implicated in QTc interval duration

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X chromosome dosage and the genetic impact across human tissues

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Anxiety and depression in Klinefelter syndrome: The impact of personality and social engagement

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Epigenetic and transcriptomic alterations in offspring born to women with type 1 diabetes (the EPICOM study)

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Integration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y chromosome segment lengths in phenotypic males with 46,XX testicular disorder/difference of sex deve...

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Elevated levels of neutrophils with a pro-inflammatory profile in Turner syndrome across karyotypes

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Short QTc Interval in Males with Klinefelter Syndrome-Influence of CAG Repeat Length, Body Composition, and Testosterone Replacement Therapy

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Criminality in men with Klinefelter's syndrome and XYY syndrome: a cohort study

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Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology

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The Changing Face of Turner Syndrome

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Widespread DNA hypomethylation and differential gene expression in Turner syndrome

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DNA hypermethylation and differential gene expression associated with Klinefelter syndrome

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Quality of life in men with Klinefelter syndrome: the impact of genotype, health, socioeconomics, and sexual function

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Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?

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Evaluation of the Efficacy of Transdermal and Injection Testosterone Therapy in Klinefelter Syndrome: A Real-Life Study

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The role of hypogonadism in Klinefelter syndrome

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8320 Integration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y-chromosome segment lengths in phenotypic males with 46,XX testicular disorder of sex developmen...

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8320 Integration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y-chromosome segment lengths in phenotypic males with 46,XX testicular disorder of sex developmen...

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The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome

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