المؤلفون: Line Dahl Jeppesen, Tina Duelund Hjortshøj, Johnny Hindkjær, Lotte Hatt, Olav Bjørn Petersen, Ripudaman Singh, Palle Schelde, Lotte Andreasen, Rikke Christensen, Dorte L. Lildballe, Ida Vogel

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, cell-based NIPT, circulating fetal cells, extravillous trophoblasts, cell-free NIPT, sex chromosome anomaly, twin pregnancy, klinefelter syndrome

Relation: https://figshare.com/articles/presentation/Presentation1_Cell-Based_NIPT_Detects_47_XXY_Genotype_in_a_Twin_Pregnancy_pptx/19346516

الاتاحة: https://doi.org/10.3389/fgene.2022.842092.s001
https://figshare.com/articles/presentation/Presentation1_Cell-Based_NIPT_Detects_47_XXY_Genotype_in_a_Twin_Pregnancy_pptx/19346516

المؤلفون: Line Dahl Jeppesen, Tina Duelund Hjortshøj, Johnny Hindkjær, Lotte Hatt, Olav Bjørn Petersen, Ripudaman Singh, Palle Schelde, Lotte Andreasen, Rikke Christensen, Dorte L. Lildballe, Ida Vogel

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: cell-based NIPT, circulating fetal cells, extravillous trophoblasts, cell-free NIPT, sex chromosome anomaly, twin pregnancy, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.842092/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/6d8ecfc0f11141ca99712dbd0659adde

المؤلفون: Luigia De Falco, Teresa Suero, Giovanni Savarese, Pasquale Savarese, Raffaella Ruggiero, Antonella Di Carlo, Mariasole Bruno, Nadia Petrillo, Monica Ianniello, Ciro Scarpato, Camilla Sarli, Antonio Fico

المصدر: Diagnostics; Volume 12; Issue 7; Pages: 1591

مصطلحات موضوعية: non-invasive prenatal screening (NIPS), sex chromosome anomaly, prenatal screening, quantitative fluorescent-polymerase chain reaction (QF-PCR), karyotype

وصف الملف: application/pdf

Relation: Pathology and Molecular Diagnostics; https://dx.doi.org/10.3390/diagnostics12071591

الاتاحة: https://doi.org/10.3390/diagnostics12071591

المؤلفون: Monika Hermann, Babak Khoshnood, Olivia Anselem, Claire Bouvattier, Aurélie Coussement, Sophie Brisset, Alexandra Benachi, Vassilis Tsatsaris

المصدر: BMC Health Services Research, Vol 19, Iss 1, Pp 1-9 (2019)

مصطلحات موضوعية: Sex chromosome anomaly, Termination of pregnancy, Turner syndrome, Vignette study, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1472-6963

URL الوصول: https://doaj.org/article/44fb5cdea6db4e5b945aa40e638609c2

المؤلفون: Ivonne Bedei, Aline Wolter, Axel Weber, Fabrizio Signore, Roland Axt-Fliedner

المصدر: Genes; Volume 12; Issue 4; Pages: 501

مصطلحات موضوعية: non-invasive prenatal testing (NIPT), non-invasive prenatal diagnosis (NIPD), sex chromosome anomaly (SCA), copy number variant (CNV), rare autosomal trisomy (RAT), chromosomal microarray (CMA), whole exome sequencing (WES), whole genome sequencing (WGS)

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12040501

الاتاحة: https://doi.org/10.3390/genes12040501

المؤلفون: Hiroo Miyazawa, Hiroshi Iwasaki, Masanori Tamura, Naoto Osuga, Sachiyo Teramoto, Tamami Saito, 大須賀 直人, 宮沢 裕夫, 寺本 幸代, 岩崎 浩, 斎藤 珠実, 田村 正徳

المصدر: 小児歯科学雑誌 / The Japanese Journal of Pediatric Dentistry. 1999, 37(5):1047

المؤلفون: Di Meo G. P., Perucatti A., Genualdo V., Iannuzzi A., Crocco D., Incarnato D., Romano G., Parma P., Iannuzzi L., NEGLIA, GIANLUCA

المساهمون: Di Meo, G. P., Neglia, Gianluca, Perucatti, A., Genualdo, V., Iannuzzi, A., Crocco, D., Incarnato, D., Romano, G., Parma, P., Iannuzzi, L.

مصطلحات موضوعية: C-Banding, Horse, Sex chromosome anomaly, Sex development, Sheep

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000275209800005; volume:3; firstpage:329; lastpage:332; numberofpages:4; journal:SEXUAL DEVELOPMENT; http://hdl.handle.net/11588/366238; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77949300133

الاتاحة: http://hdl.handle.net/11588/366238
https://doi.org/10.1159/000279289

المؤلفون: Whitmarsh, Ian, Davis, Arlene M., Skinner, Debra, Bailey,, Donald B.

المصدر: Social Science & Medicine (1982), 65(6)

مصطلحات موضوعية: Disease, Human, Female genital diseases, Public health, Social medicine, Genetics, Sex chromosome anomaly, Sex, Diagnosis, Klinefelter syndrome, Malformation, Chromosomal aberration, Parent, Dysgenesia, Genetic diagnosis, Genital system, USA, United States, Male genital diseases, Gonad, Fragile X syndrome, Turner syndrome, Sexual differentiation disorder, Uncertainty, Chromosome fragility, Endocrinopathy

Relation: https://doi.org/10.17615/e9gv-kh67; https://cdr.lib.unc.edu/downloads/j96028497?file=thumbnail; https://cdr.lib.unc.edu/downloads/j96028497

الاتاحة: https://doi.org/10.17615/e9gv-kh67
https://cdr.lib.unc.edu/downloads/j96028497?file=thumbnail
https://cdr.lib.unc.edu/downloads/j96028497

المؤلفون: 大須賀 直人, 斎藤 珠実, 田村 正徳, 寺本 幸代, 岩崎 浩, 宮沢 裕夫, Osuga Naoto, Saito Tamami, Tamura Masanori, Teramoto Sachiyio, Iwasaki Hiroshi, Miyazawa Hiroo

المصدر: 雑誌掲載論文(電子版) ; https://doi.org/10.11411/jspd1963.37.5_1047

مصطلحات موضوعية: XXXY症候群, 性染色体異常, Taurodont teeth, XXXXY syndorome, Sex chromosome anomaly, Taurodonto teeth

وصف الملف: application/pdf

Relation: 10010636317; https://doi.org/10.11411/jspd1963.37.5_1047; https://mdu.repo.nii.ac.jp/?action=repository_uri&item_id=2757; http://id.nii.ac.jp/1070/00002748/; 小児歯科学雑誌 = The Japanese Journal of Pediatric Dentistry, 37(5), 1047-1054(1999-12); AN00116228; publisher; https://mdu.repo.nii.ac.jp/?action=repository_action_common_download&item_id=2757&item_no=1&attribute_id=21&file_no=1

الاتاحة: https://mdu.repo.nii.ac.jp/?action=repository_uri&item_id=2757
http://id.nii.ac.jp/1070/00002748/
https://mdu.repo.nii.ac.jp/?action=repository_action_common_download&item_id=2757&item_no=1&attribute_id=21&file_no=1

المؤلفون: Jeppesen, Line Dahl, Hjortshøj, Tina Duelund, Hindkjær, Johnny, Hatt, Lotte, Petersen, Olav Bjørn, Singh, Ripudaman, Schelde, Palle, Andreasen, Lotte, Christensen, Rikke, Lildballe, Dorte L., Vogel, Ida

المصدر: Jeppesen , L D , Hjortshøj , T D , Hindkjær , J , Hatt , L , Petersen , O B , Singh , R , Schelde , P , Andreasen , L , Christensen , R , Lildballe , D L & Vogel , I 2022 , ' Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy ' , Frontiers in Genetics , vol. 13 , 842092 .

مصطلحات الفهرس: cell-based NIPT, cell-free NIPT, circulating fetal cells, extravillous trophoblasts, klinefelter syndrome, sex chromosome anomaly, twin pregnancy, article

URL: https://curis.ku.dk/portal/da/publications/cellbased-nipt-detects-47xxy-genotype-in-a-twin-pregnancy(956f131d-3347-491d-a5b4-049c45f67434).html
https://doi.org/10.3389/fgene.2022.842092
https://curis.ku.dk/ws/files/309122699/fgene_13_842092.pdf