Search details
1.
Endocrine, cardiac and neuropsychological aspects of adult congenital adrenal hyperplasia.
Clin Endocrinol (Oxf)
; 100(6): 515-526, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38572909
2.
The testicular microvasculature in Klinefelter syndrome is immature with compromised integrity and characterized by excessive inflammatory cross-talk.
Hum Reprod
; 38(12): 2339-2349, 2023 Dec 04.
Article
in English
| MEDLINE | ID: mdl-37910660
3.
Inclusion of sex chromosomes in noninvasive prenatal testing in Asia, Australia, Europe and the USA: A survey study.
Prenat Diagn
; 43(2): 144-155, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36703254
4.
Autosomal sex-associated co-methylated regions predict biological sex from DNA methylation.
Nucleic Acids Res
; 49(16): 9097-9116, 2021 09 20.
Article
in English
| MEDLINE | ID: mdl-34403484
5.
Epigenetic and transcriptomic alterations in offspring born to women with type 1 diabetes (the EPICOM study).
BMC Med
; 20(1): 338, 2022 09 23.
Article
in English
| MEDLINE | ID: mdl-36138412
6.
Epigenetics and genomics in Klinefelter syndrome.
Am J Med Genet C Semin Med Genet
; 184(2): 216-225, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32484281
7.
Psychological functioning, brain morphology, and functional neuroimaging in Klinefelter syndrome.
Am J Med Genet C Semin Med Genet
; 184(2): 506-517, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32468713
8.
Morbidity in Klinefelter syndrome and the effect of testosterone treatment.
Am J Med Genet C Semin Med Genet
; 184(2): 344-355, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32496001
9.
Epigenetic and transcriptomic consequences of excess X-chromosome material in 47,XXX syndrome-A comparison with Turner syndrome and 46,XX females.
Am J Med Genet C Semin Med Genet
; 184(2): 279-293, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32489015
10.
Epigenetics and genomics in Turner syndrome.
Am J Med Genet C Semin Med Genet
; 181(1): 68-75, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30811826
11.
Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years.
Am J Med Genet A
; 179(10): 1987-2033, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31418527
12.
Quality of life in men with Klinefelter syndrome: the impact of genotype, health, socioeconomics, and sexual function.
Genet Med
; 20(2): 214-222, 2018 02.
Article
in English
| MEDLINE | ID: mdl-28726803
13.
Short QTc interval in males with klinefelter syndrome-influence of CAG repeat length, body composition, and testosterone replacement therapy.
Pacing Clin Electrophysiol
; 38(4): 472-82, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25615644
14.
Testosterone Replacement Therapy in Klinefelter Syndrome-Follow-up Study Associating Hemostasis and RNA Expression.
J Clin Endocrinol Metab
; 109(4): 978-991, 2024 Mar 15.
Article
in English
| MEDLINE | ID: mdl-37962976
15.
Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome.
Eur J Endocrinol
; 2024 May 15.
Article
in English
| MEDLINE | ID: mdl-38748847
16.
The Changing Face of Turner Syndrome.
Endocr Rev
; 44(1): 33-69, 2023 01 12.
Article
in English
| MEDLINE | ID: mdl-35695701
17.
New developments and future trajectories in supernumerary sex chromosome abnormalities: a summary of the 2022 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY.
Endocr Connect
; 12(3)2023 Mar 01.
Article
in English
| MEDLINE | ID: mdl-36598290
18.
Platelet aggregation in Klinefelter syndrome is not aggravated by testosterone replacement therapy: A longitudinal follow-up study.
Andrology
; 11(3): 456-463, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36300871
19.
Dosage of the pseudoautosomal gene SLC25A6 is implicated in QTc interval duration.
Sci Rep
; 13(1): 12089, 2023 07 26.
Article
in English
| MEDLINE | ID: mdl-37495650
20.
The multi-omic landscape of sex chromosome abnormalities: current status and future directions.
Endocr Connect
; 12(9)2023 Aug 01.
Article
in English
| MEDLINE | ID: mdl-37399516