HuGE Literature Finder
Reproductive and Child Health
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| 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 |
| Prenatal Screening and Diagnosis of ß-Thalassemia in India: Is ARMS-PCR Enough? Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 2021 Jul 37 (3): 448-452. Ghosh Shouriyo, Chakrabarti Sila, Bhattacharyya Maitrey |
| Utility of noninvasive genome-wide screening: a prospective cohort of obstetric patients undergoing diagnostic testing. Genetics in medicine : official journal of the American College of Medical Genetics 2021 Mar . Guseh Stephanie, Wilkins-Haug Louise, Kaimal Anjali, Dunn-Albanese Lisa, Adams Sophie, Carroll Sarah, Discenza Marie, Dobson Lori, Brillinger Marney, Foster Judith, Gbur Samantha, Green Hayley, Herrig Nancy, Mandigo Chelsea, Pacione Michelle, Roberts Penelope, Sassaman Abigail, Steinberg Kathleen, Studwell Courtney, Gray Kathryn |
| Clinical Utility of SNP Array Analysis in Prenatal Diagnosis: A Cohort Study of 5000 Pregnancies. Frontiers in genetics 2020 11 571219. Xiang Jingjing, Ding Yang, Song Xiaoyan, Mao Jun, Liu Minjuan, Liu Yinghua, Huang Chao, Zhang Qin, Wang Ti |
| Chromosomal microarray analysis for pregnancies with or without ultrasound abnormalities in women of advanced maternal age. Journal of clinical laboratory analysis 2019 Nov . Wu Xiaoqing, An Gang, Xie Xiaorui, Su Linjuan, Cai Meiying, Chen Xuemei, Li Ying, Lin Na, He Deqin, Wang Meiying, Huang Hailong, Xu Liang |
| Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases. Journal of human genetics 2016 Jul . Sundaramurthy Srilekha, Swaminathan Meenakshi, Sen Parveen, Arokiasamy Tharigopala, Deshpande Swati, John Neetha, Gadkari Rupali A, Mannan Ashraf U, Soumittra Nagasa |
| Cystic Fibrosis: A Review of Associated Phenotypes, Use of Molecular Diagnostic Approaches, Genetic Characteristics, Progress, and Dilemmas. The Journal of molecular diagnostics : JMD 2015 Nov . Brennan Marie-Luise, Schrijver Ir |
| [Noninvasive prenatal screen of trisomy-21 using maternal plasma fetal free RNA allelic ratio]. Zhonghua fu chan ke za zhi 2015 Aug 50 (8): 568-75. Xu Yajuan, Zhai Shanshan, Luo Xiaohua, Zhang Yingying, Ran Limin, Ren Lid |
| Common mutation causes cystinosis in the majority of black South African patients. Pediatric nephrology (Berlin, Germany) 2015 Apr 30 (4): 595-601. Owen E Patricia, Nandhlal Jenisha, Leisegang Felicity, Van der Watt George, Nourse Peter, Gajjar Pri |
| Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes. American journal of obstetrics and gynecology 2015 Mar 212 (3): 332.e1-9. Wapner Ronald J, Babiarz Joshua E, Levy Brynn, Stosic Melissa, Zimmermann Bernhard, Sigurjonsson Styrmir, Wayham Nicholas, Ryan Allison, Banjevic Milena, Lacroute Phil, Hu Jing, Hall Megan P, Demko Zachary, Siddiqui Asim, Rabinowitz Matthew, Gross Susan J, Hill Matthew, Benn Pet |
| The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing. Case reports in obstetrics and gynecology 2015 2015 813104. Rapacchia Giuseppina, Lapucci Cristina, Pittalis Maria Carla, Youssef Aly, Farina Anton |
| 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 |
| Frequency of FMR1 gene mutation and CGG repeat polymorphism in intellectually disabled children in Pakistan. American journal of medical genetics. Part A 2014 May 164A (5): 1151-61. Fatima Tasneem, Zaidi Syed Aley Hasan, Sarfraz Noorjehan, Perween Siddiqa, Khurshid Faraz, Imtiaz Fauz |
| Tyrosinase gene mutations in the Chinese Han population with OCA1. Genetics research 2014 96 e14. Liu Ning, Kong Xiang Dong, Shi Hui Rong, Wu Qing Hua, Jiang Mi |
| Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. American journal of medical genetics. Part C, Seminars in medical genetics 2013 Nov 163C (4): 259-70. Roscioli T, Elakis G, Cox T C, Moon D J, Venselaar H, Turner A M, Le T, Hackett E, Haan E, Colley A, Mowat D, Worgan L, Kirk E P, Sachdev R, Thompson E, Gabbett M, McGaughran J, Gibson K, Gattas M, Freckmann M-L, Dixon J, Hoefsloot L, Field M, Hackett A, Kamien B, Edwards M, Adès L C, Collins F A, Wilson M J, Savarirayan R, Tan T Y, Amor D J, McGillivray G, White S M, Glass I A, David D J, Anderson P J, Gianoutsos M, Buckley M |
| [The clinical application of gene chips combined with CT examination in the diagnosis of large vestibular aqueduct syndrome patients]. Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery 2013 Oct 27 (19): 1073-5. Zhou Feng, Lin Ying, Luo Qiong, Chen Xiaoke, Huang Lifen, Liang Zijian, Wang Haitao, Yu Fe |
| [Practicality of rapid prenatal screening for Down syndrome with PCR-short tandem repeat method]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2013 Jun 30 (3): 277-82. Guan Lixue, Ren Cuiai, Li Haibo, Gao Li, Jia Nan, Guan H |
| The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease. Neurology 2013 Apr 80 (17): 1606-10. Gan-Or Ziv, Ozelius Laurie J, Bar-Shira Anat, Saunders-Pullman Rachel, Mirelman Anat, Kornreich Ruth, Gana-Weisz Mali, Raymond Deborah, Rozenkrantz Liron, Deik Andres, Gurevich Tanya, Gross Susan J, Schreiber-Agus Nicole, Giladi Nir, Bressman Susan B, Orr-Urtreger A |
| Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China. PloS one 2012 7 (11): 11. Yuan Y, Guo W, Tang J, Zhang G, Wang G, Han M, Zhang X, Yang S, He DZ, Dai P |
| Attitudes and beliefs of African-Americans toward genetics, genetic testing, and sickle cell disease education and awareness. Journal of genetic counseling 2011 Dec 20 (6): 572-92. Long Katie A, Thomas Stephen B, Grubs Robin E, Gettig Elizabeth A, Krishnamurti Lakshman |
| Prenatal screening for the 35delG GJB2, del (GJB6-D13S1830), and del (GJB6-D13S1854) mutations in the Romanian population. Genetic testing and molecular biomarkers 2011 Nov 15 (11): 749-53. Dragomir Cristina, Stan Adriana, Stefanescu Dragos T, Savu Lorand, Severin Emil |
| Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinoma. Cancer 2010 Jan 116 (1): 203-9. McWilliams Robert R, Petersen Gloria M, Rabe Kari G, Holtegaard Leonard M, Lynch Pamela J, Bishop Michele D, Highsmith W Edwa |
| Outcomes of a cystic fibrosis carrier testing clinic for couples. The Medical journal of Australia 2009 Nov 191 (9): 499-501. Christie Louise M, Ingrey Angela J, Turner Gillian M, Proos Anne L, Watts Gloria |
| Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population. European journal of neurology : the official journal of the European Federation of Neurological Societies 2009 Jun . Hasanzad M, Azad M, Kahrizi K, Saffar BS, Nafisi S, Keyhanidoust Z, Azimian M, Refah AA, Also E, Urtizberea JA, Tizzano EF, Najmabadi H |
| Clinical utility of the ABCR400 microarray: basing a genetic service on a commercial gene chip. Archives of ophthalmology (Chicago, Ill. : 1960) 2009 Apr 127 (4): 549-54. Roberts Lisa J, Ramesar Rajkumar S, Greenberg Jacqu |
| beta-Thalassemia mutations in the Iranian Kurdish population of Kurdistan and West Azerbaijan provinces. Hemoglobin 2009 33 (2): 109-14. Haghi Mehdi, Khorshidi Shohre, Hosseinpour Feizi Mohammad Ali, Pouladi Nasser, Hosseinpour Feizi Abbas |
| Assessment of carriers' frequency of a novel MRE11 mutation responsible for the rare ataxia telangiectasia-like disorder. Genetic testing 2008 Sep 12 (3): 387-9. Alsbeih Ghazi, Al-Hadyan Khaled, Al-Harbi Naj |
| Rapid genotyping of known mutations and polymorphisms in beta-globin gene based on the DHPLC profile patterns of homoduplexes and heteroduplexes. Clinical biochemistry 2008 Jun 41 (9): 681-7. Li Qiang, Li Li-Yan, Huang Sheng-Wen, Li Liang, Chen Xiao-Wei, Zhou Wan-Jun, Xu Xiang-M |
| A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome. Clinical genetics 2007 Nov 72 (5): 454-9. Auber B, Burfeind P, Herold S, Schoner K, Simson G, Rauskolb R, Rehder |
| The prevalence and spectrum of thalassemia in Shenzhen, Guangdong Province, People's Republic of China. Hemoglobin 2006 30 (1): 9-14. Li Zesong, Li Fangfang, Li Ming, Guo Runjun, Zhang W |
- Page last reviewed:Oct 1, 2021
- Page last updated:Jun 22, 2022
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