Human Genome Epidemiology Literature Finder
Reproductive and Child Health
Records 1 - 30 (of 343 Records) |
Query Trace: Newborn Screening[original query] |
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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 |
CFTR gene variants, air pollution, and childhood asthma in a California Medicaid population. Pediatric pulmonology 2022 8 57 (11): 2798-2807. Thilakaratne Ruwan, Graham Steve, Moua John, Jones Caitlin G, Collins Caroline, Mann Jennifer, Sciortino Stanley, Wong Jacklyn, Kharrazi Mart |
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 |
High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy. International journal of environmental research and public health 2022 7 19 (13): . Semeraro Daniela, Verrocchio Sara, Di Dalmazi Giulia, Rossi Claudia, Pieragostino Damiana, Cicalini Ilaria, Ferrante Rossella, Di Michele Silvia, Stuppia Liborio, Rizzo Cristiano, Lepri Francesca Romana, Novelli Antonio, Dionisi-Vici Carlo, De Laurenzi Vincenzo, Bucci In |
Disparities in first evaluation of infants with cystic fibrosis since implementation of newborn screening. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2022 7 . McColley Susanna A, Martiniano Stacey L, Ren Clement L, Sontag Marci K, Rychlik Karen, Balmert Lauren, Elbert Alexander, Wu Runyu, Farrell Philip |
Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literature. JIMD reports 2022 7 63 (4): 292-302. Laugwitz Lucia, Santhanakumaran Vidiyaah, Spieker Mareike, Boehringer Judith, Bender Benjamin, Gieselmann Volkmar, Beck-Woedl Stefanie, Bruchelt Gernot, Harzer Klaus, Kraegeloh-Mann Ingeborg, Groeschel Samu |
Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing. Clinical chemistry 2022 6 68 (7): 927-939. Liu Yingdi, Chen Miaomiao, Liu Jing, Mao Aiping, Teng Yanling, Yan Huiming, Zhu Huimin, Li Zhuo, Liang Desheng, Wu Lingqi |
Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions. Frontiers in genetics 2022 6 13 859837. Wilhelm Kevin, Edick Mathew J, Berry Susan A, Hartnett Michael, Brower A |
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 |
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 |
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:May 13, 2024
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