المؤلفون: Guma, Elisa, Beauchamp, Antoine, Liu, Siyuan, Levitis, Elizabeth, Clasen, Liv, Torres, Erin, Blumenthal, Jonathan, Lalonde, Francois, Qiu, Lily, Hrncir, Haley, MacKenzie-Graham, Allan, Yang, Xia, Arnold, Arthur, Lerch, Jason, Raznahan, Armin

المصدر: The Journal of Neuroscience. 43(8)

مصطلحات موضوعية: comparative neuroimaging, cross-species homology, magnetic resonance imaging, neuroanatomy, sex chromosome aneuploidy, sex chromosome trisomy, Male, Female, Humans, Mice, Animals, Sex Chromosomes, Brain, Neuroimaging, Cerebellum, Mice, Transgenic, Mammals

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4mj26951
https://escholarship.org/content/qt4mj26951/qt4mj26951.pdf

المؤلفون: Rong Wei, Jingran Li, Yuanyuan Xia, Chaohong Wang, Xinran Lu, Yuqin Fang, Jiansheng Zhu

المصدر: Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-12 (2023)

مصطلحات موضوعية: Non-invasive prenatal testing (NIPT), Assisted reproductive technology (ART), Cell-free DNA, In vitro fertilization (IVF), Sex chromosome aneuploidy (SCA), Chromosomal aneuploidies, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8166

URL الوصول: https://doaj.org/article/e6962b225c114f16a53aa12d65e3ea3e

المؤلفون: Weifang Tian, Yangyang Yuan, Erfeng Yuan, Linlin Zhang, Ling Liu, Ying Li, Jing Guo, Xueyin Cui, Pengyun Li, Shihong Cui

المصدر: European Journal of Medical Research, Vol 28, Iss 1, Pp 1-13 (2023)

مصطلحات موضوعية: NIPT-PLUS, Chromosomal microarray analysis (CMA), Rare chromosomal trisomy (RAT), Sex chromosome aneuploidy (SCA), Microdeletion/microduplication (MMS), Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2047-783X

URL الوصول: https://doaj.org/article/6fcc4cc56db2470b9c72279ac56ef3da

المؤلفون: Susan Howell, Shanlee M. Davis, Billie Carstens, Mary Haag, Judith L. Ross, Nicole R. Tartaglia

المصدر: International Journal of Neonatal Screening, Vol 10, Iss 3, p 48 (2024)

مصطلحات موضوعية: newborn, sex chromosome aneuploidy, prenatal screening, cfDNA, discordance, genetic counseling, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/10/3/48; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/ae5d366118b0434189aea92d40c3420d

المؤلفون: Howell, Susan, Davis, Shanlee M., Carstens, Billie, Haag, Mary, Ross, Judith L., Tartaglia, Nicole R.

المصدر: Department of Pediatrics Faculty Papers

مصطلحات موضوعية: newborn, sex chromosome aneuploidy, prenatal screening, cfDNA, discordance, genetic counseling, genetic testing, prenatal diagnosis, trisomy, tetrasomy, Diagnosis, Genetic Phenomena, Health Services Research, Medicine and Health Sciences, Pediatrics

وصف الملف: application/pdf

Relation: https://jdc.jefferson.edu/pedsfp/162; https://jdc.jefferson.edu/context/pedsfp/article/1164/viewcontent/Discordant_Prenatal_Cell_Free_DNA_Screening_vs._Diagnostic_Results_of_Sex_Chromosome_Aneuploidies.pdf

الاتاحة: https://jdc.jefferson.edu/pedsfp/162
https://jdc.jefferson.edu/context/pedsfp/article/1164/viewcontent/Discordant_Prenatal_Cell_Free_DNA_Screening_vs._Diagnostic_Results_of_Sex_Chromosome_Aneuploidies.pdf

المؤلفون: Shanlee M Davis, Rhianna Urban, Angelo D’Alessandro, Julie A Reisz, Christine L Chan, Megan Kelsey, Susan Howell, Nicole Tartaglia, Philip Zeitler, Peter Baker II

المصدر: Endocrine Connections, Vol 12, Iss 5, Pp 1-9 (2023)

مصطلحات موضوعية: metabolomics, klinefelter syndrome, sex chromosome aneuploidy, fatty acid metabolism, mitochondrial function, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://ec.bioscientifica.com/view/journals/ec/12/5/EC-22-0523.xml; https://doaj.org/toc/2049-3614

URL الوصول: https://doaj.org/article/7715c9af0b594652bec767cf26bc0cfb

المؤلفون: Yan LUO, Bingyi ZHAO, Yanmei SUN, Haishen TIAN, Yali LI, Yanshang ZHANG, Jian GAO, Zhiqiang CUI

المصدر: Zhongguo quanke yixue, Vol 25, Iss 20, Pp 2482-2488 (2022)

مصطلحات موضوعية: prenatal diagnosis, noninvasive prenatal screening, chromosomal microarray analysis, sex chromosome aberrations, sex chromosome aneuploidy, copy number variations, positive predictive value, Medicine

وصف الملف: electronic resource

Relation: https://www.chinagp.net/fileup/1007-9572/PDF/sfg20220019.pdf; https://doaj.org/toc/1007-9572

URL الوصول: https://doaj.org/article/061b7e51135e42428b7b937d01bbb1bf

المؤلفون: Dawid Gruszczyński, Kacper Nijakowski, Anna Wolska-Bułach, Katarzyna Lacka

المصدر: Pediatria Polska, Vol 97, Iss 1, Pp 29-38 (2022)

مصطلحات موضوعية: sex chromosome aneuploidy, turner syndrome, klinefelter syndrome, xyy syndrome, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.termedia.pl/Skeletal-and-dental-abnormalities-in-patients-with-sex-chromosome-aberrations-a-systematic-case-based-review,127,46655,1,1.html; https://doaj.org/toc/0031-3939; https://doaj.org/toc/2300-8660

URL الوصول: https://doaj.org/article/473c941740404c62a1c6c8919b75cb78

المؤلفون: Srishti Rau, Ethan T. Whitman, Kimberly Schauder, Nikhita Gogate, Nancy Raitano Lee, Lauren Kenworthy, Armin Raznahan

المصدر: Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: Sex chromosome aneuploidy, Sex chromosomes, Psychopathology, Cognition, Neurogenetic conditions, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1866-1947; https://doaj.org/toc/1866-1955

URL الوصول: https://doaj.org/article/5fbbde878e8f40159fc5f197dec2e69f

المؤلفون: Ariadna González-del Angel, Miguel Angel Alcántara-Ortigoza, Sandra Ramos, Carolina Algara-Ramírez, Marco Antonio Hernández-Hernández, Lorenza Saenger-Rivas

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 14643, p 14643 (2023)

مصطلحات موضوعية: trisomy X, unusual phenotype, distal 16p11.2 chromosome deletion, copy-number variant, sex chromosome aneuploidy, autosomal recessive diseases, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/24/19/14643; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/344f05b15d214601bfb570ce0fe30f56

الاتاحة: https://doi.org/10.3390/ijms241914643
https://doaj.org/article/344f05b15d214601bfb570ce0fe30f56

المؤلفون: Fish, Ari M, Cachia, Arnaud, Fischer, Clara, Mankiw, Catherine, Reardon, PK, Clasen, Liv S, Blumenthal, Jonathan D, Greenstein, Deanna, Giedd, Jay N, Mangin, Jean-François, Raznahan, Armin

المصدر: Cerebral Cortex. 27(12)

مصطلحات موضوعية: Biological Psychology, Psychology, Congenital Structural Anomalies, Pediatric, Neurosciences, Underpinning research, 1.1 Normal biological development and functioning, Neurological, Adolescent, Adult, Brain, Child, Child, Preschool, Female, Humans, Imaging, Three-Dimensional, Karyotype, Longitudinal Studies, Magnetic Resonance Imaging, Male, Organ Size, Pattern Recognition, Automated, Sex Characteristics, Sex Chromosome Aberrations, Young Adult, allometry, gyrification, sex chromosome aneuploidy, sex differences, sulci, Cognitive Sciences, Experimental Psychology, Biological psychology, Cognitive and computational psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1s58b3k6

المؤلفون: Sawsan Alharthi, Lama Alrasheed, Ghada Alrashed, Ghaida Almutairi, Marwan Nashabat, Majid Alfadhel

المصدر: Journal of Biochemical and Clinical Genetics, Vol 4, Iss 1, Pp 42-47 (2021)

مصطلحات موضوعية: ivf, icsi, spontaneous conception, chromosomal abnormalities, sex chromosome aneuploidy, trisomy, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.ejmanager.com/fulltextpdf.php?mno=125069; https://doaj.org/toc/1658-807X

URL الوصول: https://doaj.org/article/af1080579a54419eb1c950a1f07e036f

المؤلفون: Xinran Lu, Chaohong Wang, Yuxiu Sun, Junxiang Tang, Keting Tong, Jiansheng Zhu

المصدر: Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: Noninvasive prenatal testing, Sex chromosome aneuploidy, Positive predictive value, Advanced maternal age, High-throughput sequencing, Prenatal screening, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8166

URL الوصول: https://doaj.org/article/55b12d4ace6e41e1ab7875279c041026

المؤلفون: Yanhui Liu, Hailiang Liu, Yi He, Wanfang Xu, Qiulin Ma, Yuzhen He, Wei Lei, Guoquan Chen, Zheng He, Jiayi Huang, Jianan Liu, Yuanru Liu, Quanfei Huang, Fubing Yu

المصدر: Human Genomics, Vol 14, Iss 1, Pp 1-9 (2020)

مصطلحات موضوعية: Non-invasive prenatal testing (NIPT), First-tier screening test, Positive predictive value (PPV), Sex chromosome aneuploidy, Advanced maternal age (AMA), Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40246-020-00268-2; https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/6b38f9a9737b4039863e04a5a421f337

المؤلفون: Yanmei Lu, Shihao Zhou, Siyuan Linpeng, Siyi Ding, Shihong Li, Yujiao Li, Liangcheng Shi, Jun He, Yalan Liu

المصدر: Journal of Personalized Medicine; Volume 12; Issue 1; Pages: 48

مصطلحات موضوعية: non-invasive prenatal screening (NIPT), sex chromosome abnormality, sex chromosome aneuploidy, prenatal diagnosis, the termination of pregnancy (TOP)

وصف الملف: application/pdf

Relation: Mechanisms of Diseases; https://dx.doi.org/10.3390/jpm12010048

الاتاحة: https://doi.org/10.3390/jpm12010048

المؤلفون: Lenroot, RK, Blumenthal, JD, Wallace, GL, Clasen, LS, Lee, NR, Giedd, JN

المصدر: Genes Brain & Behavior. 13(8)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Pediatric, Clinical Research, Mental Health, Brain Disorders, Depression, Behavioral and Social Science, Intellectual and Developmental Disabilities (IDD), 2.1 Biological and endogenous factors, 2.3 Psychological, social and economic factors, Aetiology, Neurological, Mental health, Adolescent, Anxiety Disorders, Attention Deficit Disorder with Hyperactivity, Brain, Case-Control Studies, Child, Child, Preschool, Chromosomes, Human, X, Depressive Disorder, Female, Humans, Magnetic Resonance Imaging, Sex Chromosome Aberrations, Sex Chromosome Disorders of Sex Development, Trisomy, Young Adult, Trisomy X syndrome, XXX, sex chromosome aneuploidy, magnetic resonance imaging, brain, children, adolescents, X chromosome, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery, Genetics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8r84b4n4

المؤلفون: Hua Hu, Li Wang, Jiayan Wu, Peng Zhou, Jingli Fu, Jiuchen Sun, Weiyi Cai, Hailiang Liu, Ying Yang

المصدر: Human Genomics, Vol 13, Iss 1, Pp 1-9 (2019)

مصطلحات موضوعية: Noninvasive prenatal testing (NIPT), Chromosome aneuploidies, Sex chromosome aneuploidy, Subchromosomal microdeletions/microduplications, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40246-019-0198-2; https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/da7832e1a2a34c66bd6be7b6c0ea4d28

المؤلفون: Klamut, Natalia, Bothwell, Samantha, Carl, Alexandra E, Bamba, Vaneeta, Law, Jennifer R, Brickman, Wendy J, Klein, Karen O, Kanakatti Shankar, Roopa, Pinnaro, Catherina T, Fechner, Patricia Y, Prakash, Siddharth K, Gutmark-Little, Iris, Howell, Susan, Tartaglia, Nicole, Good, Marybel, Ranallo, Kelly C, Davis, Shanlee M

المصدر: GW Authored Works

مصطلحات موضوعية: Trisomy X syndrome, Turner syndrome, mosaicism, phenotype, sex chromosome aneuploidy

Relation: https://hsrc.himmelfarb.gwu.edu/gwhpubs/5269; https://doi.org/10.1002/ajmg.a.63819

الاتاحة: https://hsrc.himmelfarb.gwu.edu/gwhpubs/5269
https://doi.org/10.1002/ajmg.a.63819

المؤلفون: Guess, Tiffany, Wheeler, Ferrin C, Yenemandra, Ashwini, Schilit, Samantha L, Anderson, Hannah S, Bone, Kathleen M, Carstens, Billie, Conlin, Laura, Dulik, Matthew C, Dupont, Barbra R, Fanning, Elizabeth, Gardner, Juli-Anne, Haag, Mary, Hilton, Benjamin A, Johnson, Jill, Kogan, Jillene, Murry, Jacyln, Polonis, Katarzyna, Quigley, Denise I, Repnikova, Elena A, Rowsey, Ross A, Spinner, Nancy, Stoeker, Mikayla, Thurston, Virginia, Wiley, Margaret, Zhang, Lei

المصدر: All Other Contributions

مصطلحات موضوعية: XX karyotype, XXY, Klinefelter syndrome, difference of sex development, ovotestes, sex chromosome aneuploidy, Genetics and Genomics

Time: 46, 47

Relation: https://institutionalrepository.aah.org/allother/890; https://libkey.io/libraries/1712/10.1016/j.gim.2024.101212

الاتاحة: https://institutionalrepository.aah.org/allother/890
https://doi.org/10.1016/j.gim.2024.101212
https://libkey.io/libraries/1712/10.1016/j.gim.2024.101212

المؤلفون: Talia Thompson, Shanlee Davis, Stephanie Takamatsu, Susan Howell, Nicole Tartaglia

المصدر: Journal of Positive School Psychology ; Vol. 6 No. 1 (2022); 12-24 ; 2717-7564

مصطلحات موضوعية: Sex chromosome aneuploidy, positive psychology, character strengths, mixed methods, Klinefelter syndrome, school psychology

وصف الملف: application/pdf

Relation: https://journalppw.com/index.php/jpsp/article/view/133/127; https://journalppw.com/index.php/jpsp/article/view/133

الاتاحة: https://journalppw.com/index.php/jpsp/article/view/133