Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting
CH Gravholt, NH Andersen, GS Conway… - European journal of …, 2017 - academic.oup.com
Abstract Turner syndrome affects 25–50 per 100,000 females and can involve multiple
organs through all stages of life, necessitating multidisciplinary approach to care. Previous …
organs through all stages of life, necessitating multidisciplinary approach to care. Previous …
The changing face of Turner syndrome
CH Gravholt, M Viuff, J Just, K Sandahl… - Endocrine …, 2023 - academic.oup.com
Turner syndrome (TS) is a condition in females missing the second sex chromosome (45, X)
or parts thereof. It is considered a rare genetic condition and is associated with a wide range …
or parts thereof. It is considered a rare genetic condition and is associated with a wide range …
Turner syndrome: mechanisms and management
CH Gravholt, MH Viuff, S Brun, K Stochholm… - Nature Reviews …, 2019 - nature.com
Turner syndrome is a rare condition in women that is associated with either complete or
partial loss of one X chromosome, often in mosaic karyotypes. Turner syndrome is …
partial loss of one X chromosome, often in mosaic karyotypes. Turner syndrome is …
Genome-wide sex and gender differences in cancer
CM Lopes-Ramos, J Quackenbush… - Frontiers in oncology, 2020 - frontiersin.org
Despite their known importance in clinical medicine, differences based on sex and gender
are among the least studied factors affecting cancer susceptibility, progression, survival, and …
are among the least studied factors affecting cancer susceptibility, progression, survival, and …
Klinefelter syndrome: integrating genetics, neuropsychology, and endocrinology
CH Gravholt, S Chang, M Wallentin, J Fedder… - Endocrine …, 2018 - academic.oup.com
Although first identified over 70 years ago, Klinefelter syndrome (KS) continues to pose
substantial diagnostic challenges, as many patients are still misdiagnosed, or remain …
substantial diagnostic challenges, as many patients are still misdiagnosed, or remain …
European academy of andrology guidelines on Klinefelter syndrome endorsing organization: European Society of Endocrinology
M Zitzmann, L Aksglaede, G Corona, AM Isidori… - …, 2021 - Wiley Online Library
Abstract Background Knowledge about Klinefelter syndrome (KS) has increased
substantially since its first description almost 80 years ago. A variety of treatment options …
substantially since its first description almost 80 years ago. A variety of treatment options …
Epigenetic developmental mechanisms underlying sex differences in cancer
Cancer risk is modulated by hereditary and somatic mutations, exposures, age, sex, and
gender. The mechanisms by which sex and gender work alone and in combination with …
gender. The mechanisms by which sex and gender work alone and in combination with …
The epidemiology of sex chromosome abnormalities
A Berglund, K Stochholm… - American Journal of …, 2020 - Wiley Online Library
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 Turner …
chromosomes or parts of sex chromosomes with the best‐known syndromes being Turner …
Klinefelter syndrome: more than hypogonadism
GA Kanakis, E Nieschlag - Metabolism, 2018 - Elsevier
Klinefelter syndrome (KS) is the most frequent chromosome disorder in males (1: 650
newborn males), defined by 47, XXY karyotype. The classical phenotype is that of a tall male …
newborn males), defined by 47, XXY karyotype. The classical phenotype is that of a tall male …
X chromosome protects against bladder cancer in females via a KDM6A-dependent epigenetic mechanism
S Kaneko, X Li - Science advances, 2018 - science.org
Men are much more likely than women to develop bladder cancer (BCa), but the underlying
cause of this gender disparity remains poorly defined. Using sex-reversed mice, we show …
cause of this gender disparity remains poorly defined. Using sex-reversed mice, we show …