Search Results - "Gravholt, Claus Højbjerg"

Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study by Berglund, Agnethe, Viuff, Mette Hansen, Skakkebæk, Anne, Chang, Simon, Stochholm, Kirstine, Gravholt, Claus Højbjerg

“…Knowledge on the prevalence of sex chromosome abnormalities (SCAs) is limited, and delayed diagnosis or non-diagnosis of SCAs are a continuous concern. We…”
Get full text

Anthropometry in Klinefelter Syndrome - Multifactorial Influences Due to CAG Length, Testosterone Treatment and Possibly Intrauterine Hypogonadism by Chang, Simon, Skakkebæk, Anne, Trolle, Christian, Bojesen, Anders, Hertz, Jens Michael, Cohen, Arieh, Hougaard, David Michael, Wallentin, Mikkel, Pedersen, Anders Degn, Østergaard, John Rosendahl, Gravholt, Claus Højbjerg

“…Context: Klinefelter syndrome, 47, XXY (KS), is underdiagnosed partly due to few clinical signs complicating identification of affected individuals. Certain…”
Get full text

Dosage of the pseudoautosomal gene SLC25A6 is implicated in QTc interval duration by Skakkebæk, Anne, Kjær-Sørensen, Kasper, Matchkov, Vladimir V., Christensen, Lise-Lotte, Just, Jesper, Cömert, Cagla, Andersen, Niels Holmark, Oxvig, Claus, Gravholt, Claus Højbjerg

“…The genetic architecture of the QT interval, defined as the period from onset of depolarisation to completion of repolarisation of the ventricular myocardium,…”
Get full text

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

“…Klinefelter syndrome (KS) (47, XXY) is the most common sex chromosome disorder, with a prevalence of 1 in every 660 newborn males. Despite the profound adverse…”
Get full text

Socioeconomic parameters and mortality in Turner syndrome by Stochholm, Kirstine, Hjerrild, Britta, Mortensen, Kristian Havmand, Juul, Svend, Frydenberg, Morten, Gravholt, Claus Højbjerg

“…BackgroundTurner syndrome (TS) is characterized by hypogonadism, short adult height, increased morbidity and mortality, contrasted by self-reported normal…”
Get full text

AMH and other markers of ovarian function in patients with Turner syndrome - a single center experience of transition from pediatric to gynecological follow up by Hagen, Casper P, Fischer, Margit Bistrup, Mola, Gylli, Mikkelsen, Theis Bech, Cleemann, Line Hartvig, Gravholt, Claus Højbjerg, Viuff, Mette H, Juul, Anders, Pedersen, Anette Tønnes, Main, Katharina Maria

“…Turner syndrome (TS) is a chromosomal disorder that affects about 1 in 2500 female births and is characterized by the partial or complete absence of the second…”
Get full text

Clinical and epidemiological description of aortic dissection in Turner's syndrome by Gravholt, Claus Højbjerg, Landin-Wilhelmsen, Kerstin, Stochholm, Kirstine, Hjerrild, Britta Eilersen, Ledet, Thomas, Djurhuus, Christian Born, Sylvén, Lisskulla, Baandrup, Ulrik, Kristensen, Bent Østergaard, Christiansen, Jens Sandahl

“…Women with Turner's syndrome have an increased risk of congenital cardiac malformations, ischaemic heart disease, hypertension and stroke. Aortic dissection…”
Get more information

Carotid intima-media thickness is increased in Turner syndrome: multifactorial pathogenesis depending on age, blood pressure, cholesterol and oestrogen treatment by Mortensen, Kristian H., Andersen, Niels H., Hjerrild, Britta E., Hørlyck, Arne, Stochholm, Kirstine, Højbjerg Gravholt, Claus

“…Summary Objective  Carotid intima‐media thickness (IMT) may potentially supplement cardiovascular risk assessment in Turner syndrome (TS), where cardiovascular…”
Get full text

Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile by Skakkebæk, Anne, Gravholt, Claus Højbjerg, Rasmussen, Peter Mondrup, Bojesen, Anders, Jensen, Jens Søndergaard, Fedder, Jens, Laurberg, Peter, Hertz, Jens Michael, Ostergaard, John Rosendahl, Pedersen, Anders Degn, Wallentin, Mikkel

“…Brain imaging in Klinefelter syndrome (47, XXY) (KS), a genetic disorder characterized by the presence of an extra X chromosome, may contribute to…”
Get full text

Mortality and GH deficiency: a nationwide study by Stochholm, Kirstine, Gravholt, Claus Højbjerg, Laursen, Torben, Laurberg, Peter, Andersen, Marianne, Kristensen, Lars Østergaard, Feldt-Rasmussen, Ulla, Christiansen, Jens Sandahl, Frydenberg, Morten, Green, Anders

“…Objective: To estimate the mortality in Denmark in patients suffering from GH deficiency (GHD). Design: Mortality was analyzed in 1794 GHD patients and 8014…”
Get full text

Klinefelter syndrome has increased brain responses to auditory stimuli and motor output, but not to visual stimuli or Stroop adaptation by Wallentin, Mikkel, Skakkebæk, Anne, Bojesen, Anders, Fedder, Jens, Laurberg, Peter, Østergaard, John R, Hertz, Jens Michael, Pedersen, Anders Degn, Gravholt, Claus Højbjerg

“…Klinefelter syndrome (47, XXY) (KS) is a genetic syndrome characterized by the presence of an extra X chromosome and low level of testosterone, resulting in a…”
Get full text

Klinefelter Syndrome—A Clinical Update by Groth, Kristian A, Skakkebæk, Anne, Høst, Christian, Gravholt, Claus Højbjerg, Bojesen, Anders

“…Context: Recently, new clinically important information regarding Klinefelter syndrome (KS) has been published. We review aspects of epidemiology,…”
Get full text

The epidemiology of sex chromosome abnormalities by Berglund, Agnethe, Stochholm, Kirstine, Gravholt, Claus Højbjerg

“…Sex chromosome abnormalities (SCAs) are characterized by gain or loss of entire sex chromosomes or parts of sex chromosomes with the best‐known syndromes being…”
Get full text

Abnormalities of the major intrathoracic arteries in Turner syndrome as revealed by magnetic resonance imaging by Mortensen, Kristian Havmand, Hjerrild, Britta Eilersen, Andersen, Niels Holmark, Sørensen, Keld Ejvind, Hørlyck, Arne, Pedersen, Erik Morre, Lundorf, Erik, Christiansen, Jens Sandahl, Gravholt, Claus Højbjerg

“…Ectatic aortopathy and arterial abnormalities cause excess morbidity and mortality in Turner syndrome, where a state of vasculopathy seemingly extends into the…”
Get more information

Morbidity and GH deficiency: a nationwide study by Stochholm, Kirstine, Laursen, Torben, Green, Anders, Laurberg, Peter, Andersen, Marianne, Kristensen, Lars Østergaard, Feldt-Rasmussen, Ulla, Christiansen, Jens Sandahl, Frydenberg, Morten, Gravholt, Claus Højbjerg

“…ObjectiveTo estimate morbidity in Denmark in all patients with GH deficiency (GHD).DesignMorbidity was analyzed in 1794 GHD patients and 8014 controls matched…”
Get full text

What microRNAs could tell us about the human X chromosome by Di Palo, Armando, Siniscalchi, Chiara, Salerno, Mariacarolina, Russo, Aniello, Gravholt, Claus Højbjerg, Potenza, Nicoletta

“…MicroRNAs (miRNA) are small-non coding RNAs endowed with great regulatory power, thus playing key roles not only in almost all physiological pathways, but also…”
Get full text

Prevalence, Incidence, Diagnostic Delay, and Mortality in Turner Syndrome by Stochholm, Kirstine, Juul, Svend, Juel, Knud, Naeraa, Rune Weis, Højbjerg Gravholt, Claus

“…Aim: Our aim was to study prevalence, incidence, age at diagnosis, and mortality in Turner syndrome (TS) in Denmark. Methods: Using the Danish Cytogenetic…”
Get full text

Morbidity in 47,XYY syndrome: a nationwide epidemiological study of hospital diagnoses and medication use by Berglund, Agnethe, Stochholm, Kirstine, Gravholt, Claus Højbjerg

“…Purpose A systematic description of morbidity in 47,XYY syndrome based on nationwide registry data of hospital diagnoses and prescribed medication. Methods All…”
Get full text

Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome -a nationwide cohort study by Viuff, Mette Hansen, Stochholm, Kirstine, Juul, Svend, Gravholt, Claus Højbjerg

“…The literature about eye, ear, nose, skin, and nervous system disorders in women with Turner syndrome is equivocal. Impaired vision and hearing in women with…”
Get full text

Correction to: What microRNAs could tell us about the human X chromosome by Di Palo, Armando, Siniscalchi, Chiara, Salerno, Mariacarolina, Russo, Aniello, Gravholt, Claus Højbjerg, Potenza, Nicoletta

“…The article What microRNAs could tell us about the human X chromosome…”
Get full text