المؤلفون: Jinling Hospital, China, Reproductive Medical Center of Hebei Maternity Hospital, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, The First Medical Center of Chinese People's Liberation Army General Hospital, Shengjing Hospital, First Affiliated Hospital, Sun Yat-Sen University, Reproductive & Genetic Hospital of CITIC-Xiangya, Yikon Genomics Company, Ltd, Peking University Shenzhen Hospital, The Second Hospital of Hebei Medical University, West China Second University Hospital, Second Affiliated Hospital of Wenzhou Medical University, Third Affiliated Hospital of Zhengzhou University

المساهمون: Jie Qiao, Professor

المصدر: A Multicenter Clinical Study on Embryo Selection by Using the Ploidy of Cell Free DNA in Embryo Culture Medium
Huang J, Rong L, Zeng L, Hu L, Shi J, Cai L, Yao B, Wang XX, Xu Y, Yao Y, Wang Y, Zhao J, Guan Y, Qian W, Hao G, Lu S, Liu P, Qiao J. Embryo selection through non-invasive preimplantation genetic testing with cell-free DNA in spent culture media: a protocol for a multicentre, double-blind, randomised controlled trial. BMJ Open. 2022 Jul 27;12(7):e057254. doi: 10.1136/bmjopen-2021-057254.

المؤلفون: National Center for Research Resources (NCRR)

المصدر: The Chromosome 18 Clinical Research Center
Cody JD, Semrud-Clikeman M, Hardies LJ, Lancaster J, Ghidoni PD, Schaub RL, Thompson NM, Wells L, Cornell JE, Love TM, Fox PT, Leach RJ, Kaye CI, Hale DE. Growth hormone benefits children with 18q deletions. Am J Med Genet A. 2005 Aug 15;137(1):9-15. doi: 10.1002/ajmg.a.30848.
Lancaster JL, Cody JD, Andrews T, Hardies LJ, Hale DE, Fox PT. Myelination in children with partial deletions of chromosome 18q. AJNR Am J Neuroradiol. 2005 Mar;26(3):447-54.
Kochunov P, Lancaster J, Hardies J, Thompson PM, Woods RP, Cody JD, Hale DE, Laird A, Fox PT. Mapping structural differences of the corpus callosum in individuals with 18q deletions using targetless regional spatial normalization. Hum Brain Mapp. 2005 Apr;24(4):325-31. doi: 10.1002/hbm.20090.
Schaub RL, Hale DE, Rose SR, Leach RJ, Cody JD. The spectrum of thyroid abnormalities in individuals with 18q deletions. J Clin Endocrinol Metab. 2005 Apr;90(4):2259-63. doi: 10.1210/jc.2004-1630. Epub 2005 Jan 25.
Cody JD, Hale DE. Precision in phenotyping and genotyping. Am J Med Genet A. 2004 Dec 15;131(3):313. doi: 10.1002/ajmg.a.30263. No abstract available.
Gunn SR, Mohammed M, Reveles XT, Viskochil DH, Palumbos JC, Johnson-Pais TL, Hale DE, Lancaster JL, Hardies LJ, Boespflug-Tanguy O, Cody JD, Leach RJ. Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q. Am J Med Genet A. 2003 Jul 1;120A(1):127-35. doi: 10.1002/ajmg.a.20026.
Schaub RL, Reveles XT, Baillargeon J, Leach RJ, Cody JD. Molecular characterization of 18p deletions: evidence for a breakpoint cluster. Genet Med. 2002 Jan-Feb;4(1):15-9. doi: 10.1097/00125817-200201000-00003.
Schaub RL, Cody JD, Hale DE. Growth disorders in the chromosome 18 syndromes. Highlights 9:3-5, 2001
Hermesch CB, Cody JT, Cody JD. Dental caries history in nine children with chromosome 18p deletion syndrome. Spec Care Dentist. 2000 Mar-Apr;20(2):53-5. doi: 10.1111/j.1754-4505.2000.tb01143.x.
Hale DE, Cody JD, Baillargeon J, Schaub R, Danney MM, Leach RJ. The spectrum of growth abnormalities in children with 18q deletions. J Clin Endocrinol Metab. 2000 Dec;85(12):4450-4. doi: 10.1210/jcem.85.12.7016.
Cody JD, Reveles XT, Hale DE, Lehman D, Coon H, Leach RJ. Haplosufficiency of the melancortin-4 receptor gene in individuals with deletions of 18q. Hum Genet. 1999 Nov;105(5):424-7. doi: 10.1007/s004390051125.
Wang Z, Cody JD, Leach RJ, O'Connell P. Gene expression patterns in cell lines from patients with 18q- syndrome. Hum Genet. 1999 Jun;104(6):467-75. doi: 10.1007/s004390050989.
Cody JD, Ghidoni PD, DuPont BR, Hale DE, Hilsenbeck SG, Stratton RF, Hoffman DS, Muller S, Schaub RL, Leach RJ, Kaye CI. Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q. Am J Med Genet. 1999 Aug 27;85(5):455-62. doi: 10.1002/(sici)1096-8628(19990827)85:53.0.co;2-z.
Brkanac Z, Cody JD, Leach RJ, DuPont BR. Identification of cryptic rearrangements in patients with 18q- deletion syndrome. Am J Hum Genet. 1998 Jun;62(6):1500-6. doi: 10.1086/301854.
Keppler-Noreuil KM, Carroll AJ, Finley SC, Descartes M, Cody JD, DuPont BR, Gay CT, Leach RJ. Chromosome 18q paracentric inversion in a family with mental retardation and hearing loss. Am J Med Genet. 1998 Apr 13;76(5):372-8. doi: 10.1002/(sici)1096-8628(19980413)76:53.0.co;2-p.
Cody JD, Hale DE, Brkanac Z, Kaye CI, Leach RJ. Growth hormone insufficiency associated with haploinsufficiency at 18q23. Am J Med Genet. 1997 Sep 5;71(4):420-5.
Gay CT, Hardies LJ, Rauch RA, Lancaster JL, Plaetke R, DuPont BR, Cody JD, Cornell JE, Herndon RC, Ghidoni PD, Schiff JM, Kaye CI, Leach RJ, Fox PT. Magnetic resonance imaging demonstrates incomplete myelination in 18q- syndrome: evidence for myelin basic protein haploinsufficiency. Am J Med Genet. 1997 Jul 25;74(4):422-31. doi: 10.1002/(sici)1096-8628(19970725)74:43.0.co;2-k.
Cody JD, Pierce JF, Brkanac Z, Plaetke R, Ghidoni PD, Kaye CI, Leach RJ. Preferential loss of the paternal alleles in the 18q- syndrome. Am J Med Genet. 1997 Mar 31;69(3):280-6. doi: 10.1002/(sici)1096-8628(19970331)69:33.0.co;2-n.
Ghidoni PD, Hale DE, Cody JD, Gay CT, Thompson NM, McClure EB, Danney MM, Leach RJ, Kaye CI. Growth hormone deficiency associated in the 18q deletion syndrome. Am J Med Genet. 1997 Mar 3;69(1):7-12. doi: 10.1002/(sici)1096-8628(19970303)69:13.0.co;2-p.
Carter E, Heard P, Hasi M, Soileau B, Sebold C, Hale DE, Cody JD. Ring 18 molecular assessment and clinical consequences. Am J Med Genet A. 2015 Jan;167A(1):54-63. doi: 10.1002/ajmg.a.36822. Epub 2014 Oct 22.
Cody JD, Sebold C, Heard P, Carter E, Soileau B, Hasi-Zogaj M, Hill A, Rupert D, Perry B, O'Donnell L, Gelfond J, Lancaster J, Fox PT, Hale DE. Consequences of chromsome18q deletions. Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):265-80. doi: 10.1002/ajmg.c.31446. Epub 2015 Aug 3.
Cody JD, Hale DE. Making chromosome abnormalities treatable conditions. Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):209-15. doi: 10.1002/ajmg.c.31447.
Hasi-Zogaj M, Sebold C, Heard P, Carter E, Soileau B, Hill A, Rupert D, Perry B, Atkinson S, O'Donnell L, Gelfond J, Lancaster J, Fox PT, Hale DE, Cody JD. A review of 18p deletions. Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):251-64. doi: 10.1002/ajmg.c.31445. Epub 2015 Aug 6.
Sebold C, Soileau B, Heard P, Carter E, O'Donnell L, Hale DE, Cody JD. Whole arm deletions of 18p: medical and developmental effects. Am J Med Genet A. 2015 Feb;167A(2):313-23. doi: 10.1002/ajmg.a.36880. Epub 2015 Jan 14.
Cody JD, Hasi M, Soileau B, Heard P, Carter E, Sebold C, O'Donnell L, Perry B, Stratton RF, Hale DE. Establishing a reference group for distal 18q-: clinical description and molecular basis. Hum Genet. 2014 Feb;133(2):199-209. doi: 10.1007/s00439-013-1364-6. Epub 2013 Oct 5.

المصدر: Phase II, Open-Label, Prospective Study of T Cell Receptor Alpha/Beta Depletion (A/B TCD) Peripheral Blood Stem Cell (PBSC) Transplantation for Children and Adults With Hematological Malignancies

المؤلفون: Xie, Bokun, Sanford, Ethan James, Hung, Shih-Hsun, Wagner, Mateusz, Heyer, Wolf-Dietrich, Smolka, Marcus B

المصدر: The EMBO Journal. 43(14)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Prevention, Human Genome, Genetics, Saccharomyces cerevisiae Proteins, Saccharomyces cerevisiae, Protein Serine-Threonine Kinases, Homologous Recombination, Intracellular Signaling Peptides and Proteins, Cell Cycle Proteins, Checkpoint Kinase 2, RecQ Helicases, Signal Transduction, Phosphorylation, Chromosome Aberrations, Gene Rearrangement, Mec1, Sgs1, Resection, Chromosomal Rearrangement, Information and Computing Sciences, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2sp5m6zh
https://escholarship.org/content/qt2sp5m6zh/qt2sp5m6zh.pdf

المؤلفون: Pershad, Yash, Mack, Taralynn, Poisner, Hannah, Jakubek, Yasminka, Stilp, Adrienne, Mitchell, Braxton, Lewis, Joshua, Boerwinkle, Eric, Loos, Ruth, Chami, Nathalie, Wang, Zhe, Barnes, Kathleen, Pankratz, Nathan, Fornage, Myriam, Redline, Susan, Psaty, Bruce, Bis, Joshua, Shojaie, Ali, Silverman, Edwin, Cho, Michael, Yun, Jeong, DeMeo, Dawn, Levy, Daniel, Johnson, Andrew, Mathias, Rasika, Taub, Margaret, Arnett, Donna, North, Kari, Raffield, Laura, Carson, April, Doyle, Margaret, Rich, Stephen, Guo, Xiuqing, Cox, Nancy, Roden, Dan, Franceschini, Nora, Desai, Pinkal, Reiner, Alex, Auer, Paul, Scheet, Paul, Jaiswal, Siddhartha, Weinstock, Joshua, Bick, Alexander, Rotter, Jerome

المصدر: Nature Communications. 15(1)

مصطلحات موضوعية: Humans, Mosaicism, Chromosome Aberrations, Clonal Hematopoiesis, Male, Female, Genome-Wide Association Study, Janus Kinase 2, Telomerase, Loss of Heterozygosity, Cross-Sectional Studies, Mutation, Middle Aged, Hematopoietic Stem Cells, Polymorphism, Single Nucleotide, Aged

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7x64k9g0
https://escholarship.org/content/qt7x64k9g0/qt7x64k9g0.pdf

المؤلفون: Callander, Natalie, Silbermann, Rebecca, Kaufman, Jonathan, Godby, Kelly, Laubach, Jacob, Schmidt, Timothy, Sborov, Douglas, Medvedova, Eva, Reeves, Brandi, Dhakal, Binod, Rodriguez, Cesar, Chhabra, Saurabh, Bal, Susan, Anderson, Larry, Dholaria, Bhagirathbhai, Nathwani, Nitya, Hari, Parameswaran, Shah, Nina, Bumma, Naresh, Holstein, Sarah, Costello, Caitlin, Jakubowiak, Andrzej, Wildes, Tanya, Orlowski, Robert, Shain, Kenneth, Cowan, Andrew, Pei, Huiling, Cortoos, Annelore, Patel, Sharmila, Lin, Thomas, Giri, Smith, Costa, Luciano, Usmani, Saad, Richardson, Paul, Voorhees, Peter, Chari, Ajai

المصدر: Blood Cancer Journal. 14(1)

مصطلحات موضوعية: Humans, Multiple Myeloma, Antibodies, Monoclonal, Female, Male, Middle Aged, Aged, Antineoplastic Combined Chemotherapy Protocols, Chromosome Aberrations, Adult, Lenalidomide, Dexamethasone

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1cg0c6jf
https://escholarship.org/content/qt1cg0c6jf/qt1cg0c6jf.pdf

المؤلفون: Ternby, Ellen, Axelsson, Ove, Malmgren, Charlotta Ingvoldstad, Georgsson, Susanne

المصدر: Journal of Community Genetics. 15:711-721

مصطلحات موضوعية: Information, Informed choice, Genetic counseling, Decision making, Prenatal diagnosis, Chromosome aberrations

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:rkh:diva-4990
https://doi.org/10.1007/s12687-024-00746-3

المؤلفون: Saravanapandian, Vidya, Madani, Melika, Nichols, India, Vincent, Scott, Dover, Mary, Dikeman, Dante, Philpot, Benjamin D, Takumi, Toru, Colwell, Christopher S, Jeste, Shafali, Paul, Ketema N, Golshani, Peyman

المصدر: Journal of Neurodevelopmental Disorders. 16(1)

مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Genetics, Intellectual and Developmental Disabilities (IDD), Behavioral and Social Science, Sleep Research, Basic Behavioral and Social Science, Pediatric, Brain Disorders, Mental Health, Neurosciences, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Neurological, Mental health, Animals, Mice, Chromosomes, Human, Pair 15, Electroencephalography, Disease Models, Animal, Male, Female, Sleep Wake Disorders, Sleep, Trisomy, Chromosome Aberrations, Intellectual Disability, Dup15q syndrome, Autism, Biomarkers, EEG, GABA, UBE3A, Neurodevelopmental disorders, Psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0z24s504
https://escholarship.org/content/qt0z24s504/qt0z24s504.pdf

المؤلفون: Suzhou Hongyuan Biotech Inc., Biobay, Suzhou, China.

المساهمون: Gang An, Professor

المصدر: Clinical Utility of Ultrasensitive Chromosomal Aberrations Detection (UCAD) for Detecting Minimal Residual Disease (MRD) and Monitoring Clonal Evolution by Low-Pass Whole Genome Sequencing in Multiple Myeloma
Zeng S, Ying Y, Xing N, Wang B, Qian Z, Zhou Z, Zhang Z, Xu W, Wang H, Dai L, Gao L, Zhou T, Ji J, Xu C. Noninvasive Detection of Urothelial Carcinoma by Cost-effective Low-coverage Whole-genome Sequencing from Urine-Exfoliated Cell DNA. Clin Cancer Res. 2020 Nov 1;26(21):5646-5654. doi: 10.1158/1078-0432.CCR-20-0401. Epub 2020 Oct 9.

المؤلفون: Aarhus University Hospital

المصدر: Endocrine, Metabolic, Cardiovascular and Immunological Aspects of Sex Chromosome
Roulot D, Degott C, Chazouilleres O, Oberti F, Cales P, Carbonell N, Benferhat S, Bresson-Hadni S, Valla D. Vascular involvement of the liver in Turner's syndrome. Hepatology. 2004 Jan;39(1):239-47. doi: 10.1002/hep.20026.
Gravholt CH, Chang S, Wallentin M, Fedder J, Moore P, Skakkebaek A. Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology. Endocr Rev. 2018 Aug 1;39(4):389-423. doi: 10.1210/er.2017-00212.
de Vos WM, Tilg H, Van Hul M, Cani PD. Gut microbiome and health: mechanistic insights. Gut. 2022 May;71(5):1020-1032. doi: 10.1136/gutjnl-2021-326789. Epub 2022 Feb 1.
Berglund A, Viuff MH, Skakkebaek A, Chang S, Stochholm K, Gravholt CH. Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study. Orphanet J Rare Dis. 2019 Jan 14;14(1):16. doi: 10.1186/s13023-018-0976-2.
Gravholt CH, Juul S, Naeraa RW, Hansen J. Prenatal and postnatal prevalence of Turner's syndrome: a registry study. BMJ. 1996 Jan 6;312(7022):16-21. doi: 10.1136/bmj.312.7022.16.
Elsheikh M, Hodgson HJ, Wass JA, Conway GS. Hormone replacement therapy may improve hepatic function in women with Turner's syndrome. Clin Endocrinol (Oxf). 2001 Aug;55(2):227-31. doi: 10.1046/j.1365-2265.2001.01321.x.
Gravholt CH, Poulsen HE, Ott P, Christiansen JS, Vilstrup H. Quantitative liver functions in Turner syndrome with and without hormone replacement therapy. Eur J Endocrinol. 2007 Jun;156(6):679-86. doi: 10.1530/EJE-07-0070.
Ahmed S, Spence JD. Sex differences in the intestinal microbiome: interactions with risk factors for atherosclerosis and cardiovascular disease. Biol Sex Differ. 2021 May 17;12(1):35. doi: 10.1186/s13293-021-00378-z.
Org E, Mehrabian M, Parks BW, Shipkova P, Liu X, Drake TA, Lusis AJ. Sex differences and hormonal effects on gut microbiota composition in mice. Gut Microbes. 2016 Jul 3;7(4):313-322. doi: 10.1080/19490976.2016.1203502. Epub 2016 Jun 29.

المؤلفون: Tsuchida, Connor A, Brandes, Nadav, Bueno, Raymund, Trinidad, Marena, Mazumder, Thomas, Yu, Bingfei, Hwang, Byungjin, Chang, Christopher, Liu, Jamin, Sun, Yang, Hopkins, Caitlin R, Parker, Kevin R, Qi, Yanyan, Hofman, Laura, Satpathy, Ansuman T, Stadtmauer, Edward A, Cate, Jamie HD, Eyquem, Justin, Fraietta, Joseph A, June, Carl H, Chang, Howard Y, Ye, Chun Jimmie, Doudna, Jennifer A

المصدر: Cell. 186(21)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Immunology, Gene Therapy, Bioengineering, Biotechnology, Clinical Research, Genetics, 5.2 Cellular and gene therapies, 5.1 Pharmaceuticals, Cancer, Generic health relevance, Humans, Chromosomes, CRISPR-Cas Systems, DNA Damage, Gene Editing, T-Lymphocytes, Clinical Trials as Topic, Chromosome Aberrations, CAR T cells, CRISPR screen, CRISPR-Cas9, DNA repair, T cells, aneuploidy, chromosome loss, clinical trial, genome editing, immunoengineering, genome editing:, CAR T cells, Biological Sciences, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4111p9q6
https://escholarship.org/content/qt4111p9q6/qt4111p9q6.pdf

المؤلفون: National Human Genome Research Institute (NHGRI), East Carolina University, Mission Health System, Asheville, NC

المصدر: North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
Aboumatar HJ, Carson KA, Beach MC, Roter DL, Cooper LA. The impact of health literacy on desire for participation in healthcare, medical visit communication, and patient reported outcomes among patients with hypertension. J Gen Intern Med. 2013 Nov;28(11):1469-76. doi: 10.1007/s11606-013-2466-5. Epub 2013 May 21.
ACMG Board of Directors. Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2015 Jun;17(6):505-7. doi: 10.1038/gim.2015.41. Epub 2015 Mar 12.
Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30.
Barnett ML, Landon BE, O'Malley AJ, Keating NL, Christakis NA. Mapping physician networks with self-reported and administrative data. Health Serv Res. 2011 Oct;46(5):1592-609. doi: 10.1111/j.1475-6773.2011.01262.x. Epub 2011 Apr 26.
Bates BR. Public culture and public understanding of genetics: a focus group study. Public Underst Sci. 2005 Jan;14(1):47-65. doi: 10.1177/0963662505048409.
Berg JS, Adams M, Nassar N, Bizon C, Lee K, Schmitt CP, Wilhelmsen KC, Evans JP. An informatics approach to analyzing the incidentalome. Genet Med. 2013 Jan;15(1):36-44. doi: 10.1038/gim.2012.112. Epub 2012 Sep 20.
Berg JS, Foreman AK, O'Daniel JM, Booker JK, Boshe L, Carey T, Crooks KR, Jensen BC, Juengst ET, Lee K, Nelson DK, Powell BC, Powell CM, Roche MI, Skrzynia C, Strande NT, Weck KE, Wilhelmsen KC, Evans JP. A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing. Genet Med. 2016 May;18(5):467-75. doi: 10.1038/gim.2015.104. Epub 2015 Aug 13.
Black KZ, Hardy CY, De Marco M, Ammerman AS, Corbie-Smith G, Council B, Ellis D, Eng E, Harris B, Jackson M, Jean-Baptiste J, Kearney W, Legerton M, Parker D, Wynn M, Lightfoot A. Beyond incentives for involvement to compensation for consultants: increasing equity in CBPR approaches. Prog Community Health Partnersh. 2013 Fall;7(3):263-70. doi: 10.1353/cpr.2013.0040.
Brandes K, Linn AJ, Butow PN, van Weert JC. The characteristics and effectiveness of Question Prompt List interventions in oncology: a systematic review of the literature. Psychooncology. 2015 Mar;24(3):245-52. doi: 10.1002/pon.3637. Epub 2014 Jul 31.
Burkett K, Morris E, Manning-Courtney P, Anthony J, Shambley-Ebron D. African American families on autism diagnosis and treatment: the influence of culture. J Autism Dev Disord. 2015 Oct;45(10):3244-54. doi: 10.1007/s10803-015-2482-x.
Bussey-Jones J, Garrett J, Henderson G, Moloney M, Blumenthal C, Corbie-Smith G. The role of race and trust in tissue/blood donation for genetic research. Genet Med. 2010 Feb;12(2):116-21. doi: 10.1097/GIM.0b013e3181cd6689.
Catz DS, Green NS, Tobin JN, Lloyd-Puryear MA, Kyler P, Umemoto A, Cernoch J, Brown R, Wolman F. Attitudes about genetics in underserved, culturally diverse populations. Community Genet. 2005;8(3):161-72. doi: 10.1159/000086759.
Clayton JM, Butow PN, Tattersall MH, Devine RJ, Simpson JM, Aggarwal G, Clark KJ, Currow DC, Elliott LM, Lacey J, Lee PG, Noel MA. Randomized controlled trial of a prompt list to help advanced cancer patients and their caregivers to ask questions about prognosis and end-of-life care. J Clin Oncol. 2007 Feb 20;25(6):715-23. doi: 10.1200/JCO.2006.06.7827.
Corbie-Smith G, Thomas SB, St George DM. Distrust, race, and research. Arch Intern Med. 2002 Nov 25;162(21):2458-63. doi: 10.1001/archinte.162.21.2458.
Cunningham-Burley S. Public knowledge and public trust. Community Genet. 2006;9(3):204-10. doi: 10.1159/000092658.
DeWalt DA, Schillinger D, Ruo B, Bibbins-Domingo K, Baker DW, Holmes GM, Weinberger M, Macabasco-O'Connell A, Broucksou K, Hawk V, Grady KL, Erman B, Sueta CA, Chang PP, Cene CW, Wu JR, Jones CD, Pignone M. Multisite randomized trial of a single-session versus multisession literacy-sensitive self-care intervention for patients with heart failure. Circulation. 2012 Jun 12;125(23):2854-62. doi: 10.1161/CIRCULATIONAHA.111.081745. Epub 2012 May 9.
Dobransky-Fasiska D, Brown C, Pincus HA, Nowalk MP, Wieland M, Parker LS, Cruz M, McMurray ML, Mulsant B, Reynolds CF 3rd; RNDC-Community Partners. Developing a community-academic partnership to improve recognition and treatment of depression in underserved African American and white elders. Am J Geriatr Psychiatry. 2009 Nov;17(11):953-64. doi: 10.1097/JGP.0b013e31818f3a7e.
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Eggly S, Harper FW, Penner LA, Gleason MJ, Foster T, Albrecht TL. Variation in question asking during cancer clinical interactions: a potential source of disparities in access to information. Patient Educ Couns. 2011 Jan;82(1):63-8. doi: 10.1016/j.pec.2010.04.008. Epub 2010 Apr 28.
Elder JH, Brasher S, Alexander B. Identifying the Barriers to Early Diagnosis and Treatment in Underserved Individuals with Autism Spectrum Disorders (ASD) and Their Families: A Qualitative Study. Issues Ment Health Nurs. 2016 Jun;37(6):412-20. doi: 10.3109/01612840.2016.1153174. Epub 2016 Apr 12.
Epstein RM, Street RL Jr. The values and value of patient-centered care. Ann Fam Med. 2011 Mar-Apr;9(2):100-3. doi: 10.1370/afm.1239. No abstract available.
Evans JP, Wilhelmsen KC, Berg J, Schmitt CP, Krishnamurthy A, Fecho K, Ahalt SC. A New Framework and Prototype Solution for Clinical Decision Support and Research in Genomics and Other Data-intensive Fields of Medicine. EGEMS (Wash DC). 2016 Apr 19;4(1):1198. doi: 10.13063/2327-9214.1198. eCollection 2016.
Evans JP. Return of results to the families of children in genomic sequencing: tallying risks and benefits. Genet Med. 2013 Jun;15(6):435-6. doi: 10.1038/gim.2013.54. No abstract available.
Evans JP. When is a medical finding "incidental"? Genet Med. 2013 Jul;15(7):515-6. doi: 10.1038/gim.2013.74. Epub 2013 May 30. No abstract available.
Facio FM, Lee K, O'Daniel JM. A genetic counselor's guide to using next-generation sequencing in clinical practice. J Genet Couns. 2014 Aug;23(4):455-62. doi: 10.1007/s10897-013-9662-7. Epub 2013 Oct 24.
Fan Z, Greenwood R, Felix AC, Shiloh-Malawsky Y, Tennison M, Roche M, Crooks K, Weck K, Wilhelmsen K, Berg J, Evans J. GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia. J Neurol. 2014 Mar;261(3):622-4. doi: 10.1007/s00415-014-7265-3. Epub 2014 Feb 8. No abstract available.
Foreman AK, Lee K, Evans JP. The NCGENES project: exploring the new world of genome sequencing. N C Med J. 2013 Nov-Dec;74(6):500-4.
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Other URLs: http://www.med.unc.edu/ncgenes

المصدر: AnovaOS Network Powered Patient Registry

المؤلفون: Ádám Gáldi, Gyöngyi Farkas, Szilvia Gazdag-Hegyesi, Enikő Koszta, Péter Ágoston, Csilla Pesznyák, Tibor Major, Zoltán Takácsi-Nagy, Csaba Polgár, Zsolt Jurányi

المصدر: Radiation Oncology, Vol 19, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: Cone beam computed tomography, CBCT, Chromosome aberrations, IMRT, IGRT, Biodosimetry, Medical physics. Medical radiology. Nuclear medicine, R895-920, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1748-717X

URL الوصول: https://doaj.org/article/9e36e487aff94ec1ac6992ca852be440

المؤلفون: Praveen Sharma, Ajina Sam, Iffath Misbah, Prajwal M.N.

المصدر: Romanian Journal of Neurology, Vol 23, Iss 2, Pp 197-203 (2024)

مصطلحات موضوعية: mandibulofacial dysostosis, branchial region, craniofacial abnormalities, computed tomography, chromosome aberrations, Medicine, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://rjn.com.ro/articles/2024.2/RJN_2024_2_Art-16.pdf; https://doaj.org/toc/1843-8148; https://doaj.org/toc/2069-6094

URL الوصول: https://doaj.org/article/1ed22c0052a741e89668cd492d7fbe82

المؤلفون: Shahab Faraji, Seyed Akbar Moosavi, Ali Neshasteh-riz, Susan Cheraghi, Sara Mayahi

المصدر: Journal of Biomedical Physics and Engineering, Vol 14, Iss 3, Pp 255-266 (2024)

مصطلحات موضوعية: radiation protection, resveratrol, crocin, dna damage, human lymphocyte, chromosome aberrations, Medical physics. Medical radiology. Nuclear medicine, R895-920

وصف الملف: electronic resource

Relation: https://jbpe.sums.ac.ir/article_48462_bf50844d6f2b10782bc4c7f1a526cd20.pdf; https://doaj.org/toc/2251-7200

URL الوصول: https://doaj.org/article/cc24dfd5f2da41b1819bd8f8547cc6c7

المؤلفون: Illumina, Inc.

المصدر: Cell-free DNA Analysis of Chromosome Anomalies in Early Pregnancy Loss
Practice Committee of the American Society for Reproductive Medicine. Evaluation and treatment of recurrent pregnancy loss: a committee opinion. Fertil Steril. 2012 Nov;98(5):1103-11. doi: 10.1016/j.fertnstert.2012.06.048. Epub 2012 Jul 24.
Barisic I, Zergollern L, Muzinic D, Hitrec V. Risk estimates for balanced reciprocal translocation carriers--prenatal diagnosis experience. Clin Genet. 1996 Mar;49(3):145-51. doi: 10.1111/j.1399-0004.1996.tb03274.x.
ESHRE. European Society of Human Reproduction and Embryology guideline: recurrent pregnancy loss. Human Reproduction Open 2018: 1-12.

المصدر: The Relationship Between Fetal Membrane Thickness and Fetal Chromosomal Aneuploidies

المؤلفون: Karolinska University Hospital

المساهمون: Anna Lindstrand, MD, PhD; Adjunct Professor

المصدر: Studies of Structural Chromosome Rearrangements to Identify Genes Involved in Congenital Brain Disorders

المؤلفون: Erdmann-Pham, Dan Daniel, Batra, Sanjit Singh, Turkalo, Timothy K, Durbin, James, Blanchette, Marco, Yeh, Iwei, Shain, Hunter, Bastian, Boris C, Song, Yun S, Rokhsar, Daniel S, Hockemeyer, Dirk

المصدر: Nature Communications. 14(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Oncology and Carcinogenesis, Cancer, Human Genome, Networking and Information Technology R&D (NITRD), Cancer Genomics, 2.1 Biological and endogenous factors, Humans, Chromosome Aberrations, DNA Copy Number Variations, Chromosomes, Translocation, Genetic, Melanoma

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7sj0k79h
https://escholarship.org/content/qt7sj0k79h/qt7sj0k79h.pdf