Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 341 Records) |
Query Trace: Newborn screening[original query] |
---|
Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population. Journal of pediatric endocrinology & metabolism : JPEM 2022 9 35 (10): 1264-1271. Li Yu-Yu, Xu Jia, Sun Xue-Cheng, Li Hong-Yu, Mu K |
Functional characterization of the p.(Gln195His) or Tainan and novel p.(Ser184Cys) or Toluca glucose-6-phosphate dehydrogenase (G6PD) gene natural variants identified through Mexican newborn screening for glucose-6-phosphate dehydrogenase deficiency. Clinical biochemistry 2022 9 109-110 64-73. Alcántara-Ortigoza Miguel A, Hernández-Ochoa Beatriz, González-Del Angel Ariadna, Ibarra-González Isabel, Belmont-Martínez Leticia, Gómez-Manzo Saúl, Vela-Amieva Marce |
Estimation of hereditary fructose intolerance prevalence in the Chinese population. Orphanet journal of rare diseases 2022 8 17 (1): 326. Tang Meiling, Chen Xiang, Ni Qi, Lu Yulan, Wu Bingbing, Wang Huijun, Yin Zhaoqing, Zhou Wenhao, Dong Xinr |
FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia. The Journal of allergy and clinical immunology 2022 Aug . Ghosh Rajarshi, Bosticardo Marita, Singh Sunita, Similuk Morgan, Delmonte Ottavia M, Pala Francesca, Peng Christine, Jodarski Colleen, Keller Michael D, Chinn Ivan K, Groves Andrew K, Notarangelo Luigi D, Walkiewicz Magdalena A, Chinen Javier, Bundy Vanes |
Mutation spectrum of PTS gene in patients with tetrahydrobiopterin deficiency from jiangxi province. Frontiers in genetics 2022 12 13 1077729. Xie Kang, Zeng Baitao, Zhang Liuyang, Chen Shaohong, Zou Yongyi, Yuan Huizhen, Huang Shuhui, Wang Feng, Lu Qing, Liu Yanqiu, Yang Biche |
Newborn Genetic Screening Revealed Increased Levels of Biochemical Indicators in Carriers of Heterozygous Variants. Genetic testing and molecular biomarkers 2022 12 26 (12): 573-581. Zhang Wenyan, Jin Feng, Guo Ruolan, Qi Zhan, Wang Yaling, Li Xueling, Wu Yali, Li Wei, Hu Xuyun, Hao Chanju |
Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China. Frontiers in genetics 2022 12 13 1062715. Chang Siyu, Yang Yi, Xu Feng, Ji Wenjun, Zhan Xia, Gao Xiaolan, Chen Ting, Qiu Wenjuan, Zhang Huiwen, Liang Lili, Lu Deyun, Zhang Kaichuang, Gu Xuefan, Han Lians |
False negatives in the newborn screening for Cystic Fibrosis in Western Andalusia: Results from a 10- year experience. Pediatric pulmonology 2022 Oct . Escudero-Ávila Rocío, Pecellín Carmen Delgado, Valera María José Moreno, Hernández Laura Carrasco, Gallego María Esther Quintana, Pecellín Isabel Delga |
Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT. Blood 2022 10 . Schuetz C, Gerke J, Ege M, Walter J, Kusters M, Worth A, Kanakry J A, Dimitrova D, Wolska-Ku?nierz B, Chen K, Unal E, Karakukcu M, Pashchenko O, Leiding J, Kawai T, Amrolia P J, Berghuis D, Buechner J, Buchbinder D, Cowan M J, Gennery A R, Güngör T, Heimall J, Miano M, Meyts I, Morris E C, Rivière J, Sharapova S O, Shaw P J, Slatter M, Honig M, Veys P, Fischer A, Cavazzana M, Moshous D, Schulz A, Albert M H, Puck J M, Lankester A C, Notarangelo L D, Neven |
Furan fatty acid metabolite in newborns predicts risk of asthma. Allergy 2022 10 78 (2): 429-438. Gürdeniz Gözde, Kim Min, Brustad Nicklas, Ernst Madeleine, Russo Francesco, Stokholm Jakob, Bønnelykke Klaus, Hougaard David, Rasmussen Morten, Cohen Arieh, Chawes |
Metabolic diversity in human populations and correlation with genetic and ancestral geographic distances. Molecular genetics and metabolism 2022 10 137 (3): 292-300. Peng Gang, Pakstis Andrew J, Gandotra Neeru, Cowan Tina M, Zhao Hongyu, Kidd Kenneth K, Scharfe Cu |
Prevalence of G6PD deficiency and G6PD variants amongst the southern Thai population. PeerJ 2022 10 e14208. Nuinoon Manit, Krithong Rungnapha, Pramtong Suputcha, Sasuk Piyawit, Ngeaiad Chompunuch, Chaimusik Sathanan, Kanboonma Jiraporn, Sarakul Oraw |
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 |
Impact of intrinsic and extrinsic risk factors on early-onset lung disease in cystic fibrosis. Pediatric pulmonology 2023 8 . Leslie Huang, HuiChuan J Lai, Jie Song, Zijie Zhao, Qiongshi Lu, Sangita G Murali, Donna M Brown, Elizabeth A Worthey, Philip M Farre |
Combining polygenic risk scores and human leukocyte antigen variants for personalized risk assessment of type 1 diabetes in the Taiwanese population. Diabetes, obesity & metabolism 2023 7 . Wen-Ling Liao, Yu-Nan Huang, Ya-Wen Chang, Ting-Yuan Liu, Hsing-Fang Lu, Zih-Yu Tiao, Pen-Hua Su, Chung-Hsing Wang, Fuu-Jen Ts |
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China. Clinica chimica acta; international journal of clinical chemistry 2023 6 547 117459. Ting Zhang, Yaping Shen, Yanhua Xu, Dingwen Wu, Chi Chen, Rulai Ya |
Eighteen-years follow-up of congenital hypothyroidism by TSHR gene p.Arg109Gln and p.Arg450His variants. Nagoya journal of medical science 2023 6 85 (2): 369-374. Daisuke Watanabe, Hideaki Yagasaki, Yumiko Mitsui, Takeshi Inuk |
A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder. American journal of medical genetics. Part A 2023 5 . Carolina I Galarreta, Karen Wong, Jason Carmichael, Jeremy Woods, Christina G Tise, Annie D Niehaus, Alison J Schildt, Courtney P Verscaj, Kristina P Cusmano-Oz |
[A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 5 40 (6): 641-647. Danyan Zhuang, Fei Wang, Shuxia Ding, Zhoushu Zheng, Qi Yu, Lanqiu Lyu, Shuni Sun, Rulai Yang, Wenwen Que, Haibo |
Evaluation of 700 patients referred with a preliminary diagnosis of biotinidase deficiency by the national newborn metabolic screening program: a single-center experience. Journal of pediatric endocrinology & metabolism : JPEM 2023 4 . Sahin Erdol, Tugba Akbey Kocak, Huseyin Bilg |
Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase Deficiency. International journal of neonatal screening 2023 3 9 (1): . Tippabathani Jayakrishna, Seenappa Venu, Murugan Alagupandian, Phani Nagaraja Mahishi, Hampe Mahesh H, Appaswamy Giridharan, Sadashiv Gambhir Praka |
Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor-Tezacaftor-Ivacaftor. International journal of neonatal screening 2023 3 9 (1): . Patel Payal, Yeley Jana, Brown Cynthia, Wesson Melissa, Lesko Barbara G, Slaven James E, Chmiel James F, Jain Raksha, Sanders Don |
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 |
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 |
[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 |
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 |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: