Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 19 (of 19 Records) |
Query Trace: Trisomy 18[original query] |
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Maternal folate polymorphisms and the etiology of human nondisjunction. American journal of human genetics 2001 Aug 69 (2): 434-9. Hassold T J, Burrage L C, Chan E R, Judis L M, Schwartz S, James S J, Jacobs P A, Thomas N |
Sporadic aneuploidy in PHA-stimulated lymphocytes of trisomies 21, 18, and 13. Cytogenetic and genome research 2011 1 133 (2-4): 184-9. Reish O, Regev M, Kanesky A, Girafi S, Mashevich |
Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. American journal of obstetrics and gynecology 2014 Nov 211 (5): 527.e1-527.e17. Dar Pe'er, Curnow Kirsten J, Gross Susan J, Hall Megan P, Stosic Melissa, Demko Zachary, Zimmermann Bernhard, Hill Matthew, Sigurjonsson Styrmir, Ryan Allison, Banjevic Milena, Kolacki Paula L, Koch Susan W, Strom Charles M, Rabinowitz Matthew, Benn Pet |
Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstetrics and gynecology 2014 Aug 124 (2 Pt 1): 210-8. Pergament Eugene, Cuckle Howard, Zimmermann Bernhard, Banjevic Milena, Sigurjonsson Styrmir, Ryan Allison, Hall Megan P, Dodd Michael, Lacroute Phil, Stosic Melissa, Chopra Nikhil, Hunkapiller Nathan, Prosen Dennis E, McAdoo Sallie, Demko Zachary, Siddiqui Asim, Hill Matthew, Rabinowitz Matth |
[Association of MTHFR and MTRR genes polymorphisms with non-disjunctions of chromosomes 18 and 21]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2015 Jun 32 (3): 395-9. Guo Qiannan, Wang Hongdan, Yang Ke, Zhang Bo, Li Tao, Liao Shix |
Genome-Wide Analysis of Ocular Adnexal Lymphoproliferative Disorders Using High-Resolution Single Nucleotide Polymorphism Array. Investigative ophthalmology & visual science 2015 Jun 56 (6): 4156-65. Takahashi Hiroki, Usui Yoshihiko, Ueda Shunichiro, Yamakawa Naoyuki, Sato-Otsubo Aiko, Sato Yusuke, Ogawa Seishi, Goto Hiros |
Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish. Human mutation 2017 12 39 (4): 495-505. Hofmeister Wolfgang, Pettersson Maria, Kurtoglu Deniz, Armenio Miriam, Eisfeldt Jesper, Papadogiannakis Nikos, Gustavsson Peter, Lindstrand An |
[Single nucleotide polymorphism microarray in prenatal diagnosis of fetuses with absent nasal bone]. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2020 1 48 (4): 414-419. Yu Jialing, Sun Yixi, Hu Junjie, Qian Yeqing, Luo Yuqin, Dong Miny |
Importance of determining variations in the number of copies in newborns with autosomal aneuploidies. Biomedica : revista del Instituto Nacional de Salud 2021 7 41 (2): 282-292. Abarca Hugo, Trubnykova Milana, Chavesta Félix, Ordóñez Marco, Rondón Eveli |
Choroid Plexus Cysts: Single Nucleotide Polymorphism Array Analysis of Associated Genetic Anomalies and Resulting Obstetrical Outcomes. Risk management and healthcare policy 2021 6 14 2491-2497. Cai Meiying, Huang Hailong, Su Linjuan, Wu Xiaoqing, Xie Xiaorui, Xu Liangpu, Lin |
Clinical evaluation of non-invasive prenatal screening in 32,394 pregnancies from Changzhi maternal and child health care hospital of Shanxi China. Journal of medical biochemistry 2022 Jul 41 (3): 341-346. Li XiaoZe, Wang LiHong, Yao ZeRong, Ruan FangYing, Hu ZhiPeng, Song WenX |
Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease. Journal of Crohn's & colitis 2022 Jul . Dirvanskyte Paulina, Gurram Bhaskar, Bolton Chrissy, Warner Neil, Jones Kelsey D J, Griffin Helen R, , Park Jason Y, Keller Klaus-Michael, Gilmour Kimberly C, Hambleton Sophie, Muise Aleixo M, Wysocki Christian, Uhlig Holm |
Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period. Global medical genetics 2022 2 9 (1): 29-33. Atli Emine Ikbal, Atli Engin, Yalcintepe Sinem, Demir Selma, Kalkan Rasime, Akurut Cisem, Ozen Yasemin, Gurkan Hak |
Positive predictive value of a single nucleotide polymorphism (SNP)-based NIPT for aneuploidy in twins: Experience from clinical practice. Prenatal diagnosis 2022 11 42 (13): 1587-1593. Kantor Valerie, Mo Lihong, DiNonno Wendy, Howard Katherine, Palsuledesai Charuta C, Parmar Sheetal, Chithiwala Zahabiya, Jelsema Russ, Xu Wenbo, Hedriana Herman |
Cell-free DNA screening for trisomies 21, 18, and 13 in pregnancies at low and high risk for aneuploidy with genetic confirmation. American journal of obstetrics and gynecology 2022 Jan . Dar Pe'er, Jacobsson Bo, MacPherson Cora, Egbert Melissa, Malone Fergal, Wapner Ronald J, Roman Ashley S, Khalil Asma, Faro Revital, Madankumar Rajeevi, Edwards Lance, Haeri Sina, Silver Robert, Vohra Nidhi, Hyett Jon, Clunie Garfield, Demko Zachary, Martin Kimberly, Rabinowitz Matthew, Flood Karen, Carlsson Ylva, Doulaveris Georgios, Malone Ciara, Hallingstrom Maria, Klugman Susan, Clifton Rebecca, Kao Charlly, Hakonarson Hakon, Norton Mary |
Performance of noninvasive prenatal testing for twin pregnancies in South China. Journal of assisted reproduction and genetics 2023 7 . Dongmei Wang, Haishan Peng, Yixia Wang, Yaping Hou, Fangfang Guo, Juan Zhu, Tingting Hu, Jiexia Ya |
Single nucleotide polymorphism array (SNP-array) analysis for fetuses with abnormal nasal bone. Archives of gynecology and obstetrics 2023 7 . Xiaorui Xie, Linjuan Su, Ying Li, Qingmei Shen, Meiying Wang, Xiaoqing |
Identification of Extremely Rare Pathogenic CNVs by Array CGH in Saudi Children with Developmental Delay, Congenital Malformations, and Intellectual Disability. Children (Basel, Switzerland) 2023 5 10 (4): . Sajjad Karim, Ibtessam Ramzi Hussein, Hans-Juergen Schulten, Saad Alsaedi, Zeenat Mirza, Mohammed Al-Qahtani, Adeel Chaudha |
Gender bias in fetal malformations: A cross-sectional study in Asian populations. Frontiers in endocrinology 2023 4 14 1146689. Zhang Meixiang, Su Yingchun, Sun Ying- |
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- Page last updated:Apr 16, 2024
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