المؤلفون: Gravholt, Claus H., Andersen, Niels H., Christin-Maitre, Sophie, Davis, Shanlee M., Duijnhouwer, Anthonie, Gawlik, Aneta, Maciel-Guerra, Andrea T., Gutmark-Little, Iris, Fleischer, Kathrin, Hong, David, Klein, Karen O., Prakash, Siddharth K., Shankar, Roopa Kanakatti, Sandberg, David E., Sas, Theo C.J., Skakkebæk, Anne, Stochholm, Kirstine, van der Velden, Janielle A., Backeljauw, Philippe F.

المصدر: Gravholt , C H , Andersen , N H , Christin-Maitre , S , International Turner Syndrome Consensus Group , Davis , S M , Duijnhouwer , A , Gawlik , A , Maciel-Guerra , A T , Gutmark-Little , I , Fleischer , K , Hong , D , Klein , K O , Prakash , S K , Shankar , R K , Sandberg , D E , Sas , T C J , Skakkebæk , A , Stochholm , K , van der Velden , J A & Backeljauw , P F 2024 , ' Clinical ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/01e4ab72-a678-4f86-b046-bab32eda2cc2Test

الإتاحة: https://doi.org/10.1093/ejendo/lvae050Test
https://pure.eur.nl/en/publications/01e4ab72-a678-4f86-b046-bab32eda2cc2Test
https://pure.eur.nl/ws/files/154326756/lvae050.pdfTest
http://www.scopus.com/inward/record.url?scp=85196325682&partnerID=8YFLogxKTest

المؤلفون: Ridder, Lukas Ochsner, Balle, Camilla Mains, Skakkebæk, Anne, Lind-Holst, Marie, Nielsen, Mette Mølby, Hermann, Pernille, Hansen, Stinus, Nielsen, Dorte Guldbrand, Knorr, Sine, Andersen, Niels Holmark, Viuff, Mette Hansen, Berglund, Agnethe, Gravholt, Claus Højbjerg

المصدر: Ridder , L O , Balle , C M , Skakkebæk , A , Lind-Holst , M , Nielsen , M M , Hermann , P , Hansen , S , Nielsen , D G , Knorr , S , Andersen , N H , Viuff , M H , Berglund , A & Gravholt , C H 2024 , ' Endocrine, cardiac and neuropsychological aspects of adult congenital adrenal hyperplasia ' , Clinical Endocrinology , vol. 100 , no. 6 , pp. 515-526 . https://doi.org/10.1111/cen.15055Test

مصطلحات موضوعية: cardiology, congenital adrenal hyperplasia, endocrinology, neuropsychology, quality of life

وصف الملف: application/pdf

العلاقة: https://vbn.aau.dk/da/publications/e5bd4faf-ff80-4fed-9041-c90e766dfa0fTest

الإتاحة: https://doi.org/10.1111/cen.15055Test
https://vbn.aau.dk/da/publications/e5bd4faf-ff80-4fed-9041-c90e766dfa0fTest
https://vbn.aau.dk/ws/files/714696111/Ridder_et_al._2024_._Endocrine_cardiac_and_neuropsychological_aspects_of_adult_congenital_adrenal_hyperplasia.pdfTest
http://www.scopus.com/inward/record.url?scp=85189986380&partnerID=8YFLogxKTest

المؤلفون: The NIPT-SCA-map Study Group, Steffensen, Ellen Hollands, Skakkebæk, Anne, Gadsbøll, Kasper, Jacobsson, Bo, Stefanovic, Vedran

المساهمون: Department of Obstetrics and Gynecology, Clinicum, HUS Gynecology and Obstetrics

مصطلحات موضوعية: 3123 Gynaecology and paediatrics

وصف الملف: application/pdf

العلاقة: We appreciate the contributions made by the NIPT‐SCA‐map study group for this research. Ellen Hollands Steffensen is funded by the faculty of Health at Aarhus University, the Health Research Fund of Central Denmark Region (A2602), and Helsefonden (20‐B‐0065). Anne Skakkebæk is funded by the Independent Research Fund Denmark (0134‐00130B). Olav Bjørn Petersen holds a professorship funded by the Novo Nordisk Foundation (grant NNFSA170030576). Heather Strange is funded by Health and Care Research Wales (HRG‐18 1507). Ida Vogel is funded by the Novo Nordisk Foundation (NNF16OC0018772).; The NIPT-SCA-map Study Group , Steffensen , E H , Skakkebæk , A , Gadsbøll , K , Jacobsson , B & Stefanovic , V 2023 , ' Inclusion of sex chromosomes in noninvasive prenatal testing in Asia, Australia, Europe and the USA : A survey study ' , Prenatal Diagnosis , vol. 43 , no. 2 , pp. 144-155 . https://doi.org/10.1002/pd.6322Test; 85147505425; cd06e4ec-1423-4257-8b8c-387ff26dee72; http://hdl.handle.net/10138/571496Test

الإتاحة: http://hdl.handle.net/10138/571496Test

المؤلفون: Steffensen, Ellen Hollands, Skakkebæk, Anne, Gadsbøll, Kasper, Petersen, Olav Bjørn, Westover, Thomas, Strange, Heather, NIPT-SCA-map Study Group, Vogel, Ida, Rauch, Anita

المصدر: Steffensen, Ellen Hollands; Skakkebæk, Anne; Gadsbøll, Kasper; Petersen, Olav Bjørn; Westover, Thomas; Strange, Heather; NIPT-SCA-map Study Group; Vogel, Ida; et al; Rauch, Anita (2023). Inclusion of sex chromosomes in noninvasive prenatal testing in Asia, Australia, Europe and the USA: A survey study. Prenatal Diagnosis, 43(2):144-155.

مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, Genetics (clinical), Obstetrics and Gynecology, NIPT

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/232579/1/Prenatal_Diagnosis___2023___Steffensen___Inclusion_of_sex_chromosomes_in_noninvasive_prenatal_testing_in_Asia__Australia_.pdfTest; info:pmid/36703254; urn:issn:0197-3851

الإتاحة: https://doi.org/10.5167/uzh-23257910.1002/pd.6322Test
https://www.zora.uzh.ch/id/eprint/232579Test/
https://www.zora.uzh.ch/id/eprint/232579/1/Prenatal_Diagnosis___2023___Steffensen___Inclusion_of_sex_chromosomes_in_noninvasive_prenatal_testing_in_Asia__Australia_.pdfTest

المؤلفون: Gravholt, Claus H., Ferlin, Alberto, Gromoll, Joerg, Juul, Anders, Raznahan, Armin, van Rijn, Sophie, Rogol, Alan D., Skakkebæk, Anne, Tartaglia, Nicole, Swaab, Hanna

المصدر: Gravholt , C H , Ferlin , A , Gromoll , J , Juul , A , Raznahan , A , van Rijn , S , Rogol , A D , Skakkebæk , A , Tartaglia , N & Swaab , H 2023 , ' 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 ' , Endocrine Connections , vol. 12 , no. 3 , e220500 . https://doi.org/10.1530/EC-22-0500Test

مصطلحات موضوعية: anti-Mullerian hormone, Klinefelter syndrome, testosterone, trisomy X syndrome, XYY syndrome

الوقت: 47

العلاقة: https://pure.au.dk/portal/en/publications/bed90e3f-33fb-4b26-a4c5-77d98bcf3411Test

الإتاحة: https://doi.org/10.1530/EC-22-0500Test
https://pure.au.dk/portal/en/publications/bed90e3f-33fb-4b26-a4c5-77d98bcf3411Test
http://www.scopus.com/inward/record.url?scp=85148518231&partnerID=8YFLogxKTest

المؤلفون: Johannsen, Emma B, Skakkebæk, Anne, Kalucka, Joanna M, Fedder, Jens, Gravholt, Claus H, Just, Jesper

المصدر: Johannsen , E B , Skakkebæk , A , Kalucka , J M , Fedder , J , Gravholt , C H & Just , J 2023 , ' The testicular microvasculature in Klinefelter syndrome is immature with compromised integrity and characterized by excessive inflammatory cross-talk ' , Human reproduction (Oxford, England) , vol. 38 , no. 12 , pp. 2339–2349 . https://doi.org/10.1093/humrep/dead224Test

العلاقة: https://pure.au.dk/portal/en/publications/44159b23-593c-4f1d-8d7e-da2553b98f11Test

الإتاحة: https://doi.org/10.1093/humrep/dead224Test
https://pure.au.dk/portal/en/publications/44159b23-593c-4f1d-8d7e-da2553b98f11Test

المؤلفون: Tallaksen, Helene Bandsholm Leere, Johannsen, Emma B., Just, Jesper, Viuff, Mette Hansen, Gravholt, Claus H., Skakkebæk, Anne

المصدر: Tallaksen , H B L , Johannsen , E B , Just , J , Viuff , M H , Gravholt , C H & Skakkebæk , A 2023 , ' The multi-omic landscape of sex chromosome abnormalities : current status and future directions ' , Endocrine Connections , vol. 12 , no. 9 , e230011 . https://doi.org/10.1530/EC-23-0011Test

مصطلحات موضوعية: genetics, Klinefelter syndrome, sex chromosome abnormalities, Turner syndrome

العلاقة: https://pure.au.dk/portal/en/publications/b04169f9-2b56-4402-9c71-7a089f83cfb4Test

الإتاحة: https://doi.org/10.1530/EC-23-0011Test
https://pure.au.dk/portal/en/publications/b04169f9-2b56-4402-9c71-7a089f83cfb4Test
http://www.scopus.com/inward/record.url?scp=85167439333&partnerID=8YFLogxKTest

المؤلفون: Skakkebæk, Anne, Kjær-Sørensen, Kasper, Matchkov, Vladimir V., Christensen, Lise Lotte, Just, Jesper, Cömert, Cagla, Andersen, Niels Holmark, Oxvig, Claus, Gravholt, Claus Højbjerg

المصدر: Skakkebæk , A , Kjær-Sørensen , K , Matchkov , V V , Christensen , L L , Just , J , Cömert , C , Andersen , N H , Oxvig , C & Gravholt , C H 2023 , ' Dosage of the pseudoautosomal gene SLC25A6 is implicated in QTc interval duration ' , Scientific Reports , vol. 13 , no. 1 , 12089 . https://doi.org/10.1038/s41598-023-38867-3Test

العلاقة: https://pure.au.dk/portal/en/publications/61aabf21-cb48-45da-b922-c32ec0e702d5Test

الإتاحة: https://doi.org/10.1038/s41598-023-38867-3Test
https://pure.au.dk/portal/en/publications/61aabf21-cb48-45da-b922-c32ec0e702d5Test
http://www.scopus.com/inward/record.url?scp=85165628813&partnerID=8YFLogxKTest

المؤلفون: 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.

المصدر: Viuff , M , Skakkebæk , A , Johannsen , E B , Chang , S , Pedersen , S B , Lauritsen , K M , Pedersen , M G B , Trolle , C , Just , J & Gravholt , C H 2023 , ' X chromosome dosage and the genetic impact across human tissues ' , Genome Medicine , vol. 15 , no. 1 , 21 . https://doi.org/10.1186/s13073-023-01169-4Test

مصطلحات موضوعية: DNA methylation, Epigenetics, Genetics, RNA expression, Sex chromosome aneuploidies

العلاقة: https://pure.au.dk/portal/en/publications/9e1f1ae9-1095-43db-ade1-7e8f24d2960aTest

الإتاحة: https://doi.org/10.1186/s13073-023-01169-4Test
https://pure.au.dk/portal/en/publications/9e1f1ae9-1095-43db-ade1-7e8f24d2960aTest
http://www.scopus.com/inward/record.url?scp=85151112703&partnerID=8YFLogxKTest

المؤلفون: Steffensen, Ellen Hollands, Skakkebaek, Anne, Gadsbøll, Kasper, Petersen, Olav Bjørn, Westover, Thomas, Strange, Heather, Vogel, Ida

المصدر: Steffensen , E H , Skakkebaek , A , Gadsbøll , K , Petersen , O B , Westover , T , Strange , H , Vogel , I & NIPT-SCA-map Study Group 2023 , ' Inclusion of sex chromosomes in noninvasive prenatal testing in Asia, Australia, Europe and the USA : A survey study ' , Prenatal Diagnosis , vol. 43 , no. 2 , pp. 144-155 . https://doi.org/10.1002/pd.6322Test

مصطلحات موضوعية: Aneuploidy, Australia, Female, Hong Kong, Humans, Noninvasive Prenatal Testing, Pregnancy, Prenatal Diagnosis/methods, Sex Chromosome Aberrations, Sex Chromosomes, Surveys and Questionnaires

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1002/pd.6322Test
https://pure.au.dk/portal/da/publications/inclusion-of-sex-chromosomes-in-noninvasive-prenatal-testing-in-asia-australia-europe-and-the-usaTest(2818b8f8-389a-441a-85f2-eef5d5dd23b2).html
https://pure.au.dk/ws/files/306857058/Prenatal_Diagnosis_2023_Steffensen_Inclusion_of_sex_chromosomes_in_noninvasive_prenatal_testing_in_Asia_Australia_.pdfTest