Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 362 Records) |
| Query Trace: Newborn screening[original query] |
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| Ethnically unique disease burden and limitations of current expanded carrier screening panels. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2023 9 . Chih-Ling Chen, Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu, Miao-Zi Hung, Yi-Lin Lin, Shin-Yu Lin, Chien-Nan L |
| Mutation spectrum and enzyme profiling of G6PD deficiency in neonates of north India: a prospective study. Journal of genetics 2023 9 102 . Upasana Bhattacharyya, Preeti Deswal, Sunil Kumar Polipalli, Diksha Sharma, Manpreet Kaur, , Seema Kapoor, B K Thel |
| Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation. Molecular genetics and metabolism 2023 8 140 (3): 107668. May Flowers, Alexa Dickson, Marcus J Miller, Elaine Spector, Gregory Mark Enns, Heather Baudet, Marzia Pasquali, Lemuel Racacho, Kianoush Sadre-Bazzaz, Ting Wen, Melissa Fogarty, Raquel Fernandez, Meredith A Weaver, Annette Feigenbaum, Brett H Graham, Rong M |
| Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening. Frontiers in genetics 2023 12 14 1304458. Xiaoshan Ji, Yanzhuang Ge, Qi Ni, Suhua Xu, Zhongmeng Xiong, Lin Yang, Liyuan Hu, Yun Cao, Yulan Lu, Qiufen Wei, Wenqing Kang, Deyi Zhuang, Wenhao Zhou, Xinran Do |
| A pilot study of newborn screening for X-linked adrenoleukodystrophy based on liquid chromatography-tandem mass spectrometry method for detection of C26:0-lysophosphatidylcholine in dried blood spots: Results from 43,653 newborns in a southern Chinese population. Clinica chimica acta; international journal of clinical chemistry 2023 11 117653. Chengfang Tang, Fang Tang, Yanna Cai, Minyi Tan, Sichi Liu, Ting Xie, Xiang Jiang, Yonglan Hua |
| Sickle Cell Anemia Screening in Newborns and Analysis of Haplotypes in Patients from Santiago Island, Cape Verde. Anemia 2024 9 2024 1687917. Ariana Freire, Laura Charola-Ramos, Elisa González-Guerra, João Gonçalves, Vanusa Rocha, Vera Afreixo, Enrique Martínez-Carretero, José M Ra |
| Evaluation of the etiology of subclinical hypothyroidism in children. Journal of pediatric endocrinology & metabolism : JPEM 2024 8 . Ay?e Ya?ar, Esma Ebru Altun, Heves K?rm?z?bekmez, Fatma Durs |
| Screening and the analysis of genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Fujian province, China. Frontiers in genetics 2024 7 15 1422214. Jinfu Zhou, Yinglin Zeng, Jianping Tang, Shihong Chen, Guilin Li, Xiaolong Qiu, Peiran Zhao, Ting Huang, Jinying Luo, Na Lin, Liangpu |
| Diagnosis of cystic fibrosis: a high heterogeneity of symptoms and genotypes in a Brazil population. BMC pediatrics 2024 7 24 (1): 422. Daniela Gois Meneses, Fábia Regina Dos Santos, Anne Jardim Botelho, Luciana Mota Bispo, Camilla Guerra Matos, Vynicius Goltran Sobral Propheta, Alexia Ferreira Rodrigues, Géssica Uruga Oliveira, Angela Maria da Silva, Ricardo Queiroz Gurg |
| Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China. Human genomics 2024 7 18 (1): 84. Shiying Ling, Shengnan Wu, Ruixue Shuai, Yue Yu, Wenjuan Qiu, Haiyan Wei, Chiju Yang, Peng Xu, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Huiwen Zhang, Lili Liang, Yu Wang, Ting Chen, Feng Xu, Xuefan Gu, Lianshu H |
| Rapid detection of common variants and deletions of CYP21A2 using MALDI-TOF MS. European journal of medical genetics 2024 6 69 104950. Xiaoshan Yin, Yiming Lin, Ting Zhang, Haixia Miao, Lingwei Hu, Zhenzhen Hu, Dou Zhou, Benqing Wu, Xinwen Hua |
| High carrier frequency for abetalipoproteinemia and evidence of a founder variant in a French-Canadian population. Journal of clinical lipidology 2024 6 . Simon-Pierre Guay, Martine Paquette, Lysanne Girard, Véronique Desgagné, Géraldine Gosse, Valérie Poulin, Luigi Bouchard, Alexis Baa |
| Comprehensive analysis of thalassemia alleles (CATSA) based on third-generation sequencing is a comprehensive and accurate approach for neonatal thalassemia screening. Clinica chimica acta; international journal of clinical chemistry 2024 5 560 119749. Ju Long, Chunhui Yu, Lei Sun, Mingkui Peng, Chuanlu Song, Aiping Mao, Jiahan Zhan, Enqi L |
| Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene. International journal of molecular sciences 2024 5 25 (9): . Inna S Tebieva, Polina V Mishakova, Yulia V Gabisova, Alana V Khokhova, Tamara G Kaloeva, Andrey V Marakhonov, Olga A Shchagina, Alexander V Polyakov, Evgeny K Ginter, Sergey I Kutsev, Rena A Zinchen |
| Burden of Mendelian disorders in a large Middle Eastern biobank. Genome medicine 2024 4 16 (1): 46. Waleed Aamer, Aljazi Al-Maraghi, Najeeb Syed, Geethanjali Devadoss Gandhi, Elbay Aliyev, Alya A Al-Kurbi, Omayma Al-Saei, Muhammad Kohailan, Navaneethakrishnan Krishnamoorthy, Sasirekha Palaniswamy, Khulod Al-Malki, Saleha Abbasi, Nourhen Agrebi, Fatemeh Abbaszadeh, Ammira S Al-Shabeeb Akil, Ramin Badii, Tawfeg Ben-Omran, Bernice Lo, , Younes Mokrab, Khalid A Fakh |
| [Analysis of the results for genetic disease screening among 1 000 newborns from Huzhou]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 4 41 (5): 551-555. Guosong Shen, Lin Zou, Wenwen Li, Kefeng Tang, Yaqin Zhang, Zhongying Ding, Xueping Sh |
| [Newborn screening, clinical features and genetic analysis for Citrin deficiency in Henan province]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 4 41 (4): 461-466. Xinyun Zhu, Yizhuo Xu, Jie Zhang, Xiaole Li, Jingwen He, Chenlu Jia, Shubo Lyu, Suna Liu, Yanbo Gao, Kun Ma, Yunjia Ouyang, Yihui Ren, Dehua Zh |
| Newborn Screening for ?-Thalassemia Identifies a Complex Genotype Involving a Novel ?-Globin Gene Mutation (HBB:c.336dup). Hemoglobin 2024 4 1-3. John S Waye, Meredith Hanna, Betty-Ann Hohenadel, Lisa Nakamura, Lynda Walker, Barry Eng, Landry E Nfons |
| High precision newborn screening for mucopolysaccharidosis type I by enzymatic activity followed by endogenous, non-reducing end glycosaminoglycan analysis. Molecular genetics and metabolism 2024 12 108612. Zackary M Herbst, Francyne Kubaski, Laura Pollard, Khaja Basheeruddin, Barbara Burton, Joseph Orsini, Matthew Henderson, Pranesh Chakraborty, Michael H Ge |
| Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia. Pediatric research 2024 11 . Fengying Lu, Bin Zhang, Yuqi Yang, Ye Shi, Fangxiu Zheng, Qin Zhou, Yingping Chen, Lingna Zhou, Bin |
| Development and validation of a one-step SMN assay for genetic testing in spinal muscular atrophy via MALDI-TOF MS. The Analyst 2024 11 . Xiaodong Xing, Xing Ji, Xinzhu Liu, Xiaohui Jin, Zhenglei He, Ajing Xu, Wengao Jiang, Wenbo Ji, Yan Liu, Jian Zhang, Xiaohui Hua |
| Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I. American journal of medical genetics. Part A 2024 11 e63940. Lauren O Grady, Emilie S Zoltick, Hana Zouk, Wei He, Emma Perez, Lorne Clarke, Jessica Gold, Alanna Strong, Inderneel Sahai, Julie Yeo, Robert C Green, Amel Karaa, Nina B Go |
| Improving methylmalonic acidemia (MMA) screening and MMA genotype prediction using random forest classifier in two Chinese populations. European journal of medical research 2024 11 29 (1): 540. Zhe Yin, Chuan Zhang, Rui Dong, Xinyuan Zhang, Yingnan Song, Shengju Hao, Zhongtao Gai, Bingbo Zhou, Ling Hui, Shifan Wang, Huiqin Xue, Zongfu Cao, Yi Liu, Xu |
| Prevalence and Mutation Analysis of Short-Chain acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China. International journal of neonatal screening 2024 10 10 (4): . Haili Hu, Qingqing Ma, Weidong Li, Yan Wang, Wangsheng Song, Yong Hua |
| Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening. PloS one 2024 10 19 (10): e0310517. Minyi Tan, Xiulian Liu, Yinhong Zhang, Yifan Yin, Ting Chen, Yulin Li, Lulu Feng, Bo Zhu, Chunjing Xu, Chengfang Tang, Meng Sun, Liyun Jia, Weiwei Jin, Chunna Fan, Hui Huang, Xiaohua Wang, Jizhen Feng, Hui Zou, Lianshu Han, Jingkun Miao, Baosheng Zhu, Cidan Huang, Yonglan Hua |
| Newborn screening for fatty acid oxidation disorders in a southern Chinese population. Heliyon 2024 1 10 (1): e23671. Yiming Lin, Chunmei Lin, Bangbang Lin, Zhenzhu Zheng, Weihua Lin, Yanru Chen, Dongmei Chen, Weilin Pe |
| Digenic Inheritance Mode in Congenital Hypothyroidism due to Thyroid Dysgenesis: HYPOTYGEN translational cohort study. The Journal of clinical endocrinology and metabolism 2025 1 . Athanasia Stoupa, Dulanjalee Kariyawasam, Fabienne Jabot-Hanin, Adrien Nguyen Quoc, Sylvain Hanein, Tioka Rabeony, Caroline Elie, Sandra Colas, Caroline Thalassinos, Isabelle Oliver-Petit, Muriel Houang, Régis Coutant, Pascal Barat, Marc Nicolino, Rachel Reynaud, Marc de Kerdanet, Candace Ben Signor, Sabine Baron, Catherine Raynaud-Ravni, Pierre-François Souchon, Juliane Léger, Mireille Castanet, Christine Bole-Feysot, Patrick Nitschke, Stanislas Lyonnet, Michel Polak, Aurore Car |
| [Tandem mass spectrometry screening and genetic analysis of neonates with Urea cycle disorders]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2025 1 42 (1): 26-33. Wei Zhou, Huizhong Li, Li Yang, Fang Shao, Maosheng |
| Transgenerational associations between newborn metabolic profiles and bronchopulmonary dysplasia in neonates born to mothers with an obese phenotype. Scientific reports 2025 1 15 (1): 1144. Jonathan D Reiss, Wei Yang, Alan L Chang, Jonathan Z Long, Ivana Mari?, Jochen Profit, Karl G Sylvester, David K Stevenson, Nima Aghaeepour, Gary M Sh |
| Effective Newborn Screening for Type 1 and 3 Primary Hyperoxaluria. Kidney international reports 2025 1 10 (1): 177-183. Bernd Hoppe, Cristina Martin-Higueras, Lodovica Borghese, Sophie Kaspar, Björn Reusch, Bodo B Beck, Adam Walli, Ella Janzen, Sebastian Hegert, Nils Janzen, Katharina Hohenfelln |
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