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Academic Journal

TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism.

  • Authors : Zhang HY; The Core Laboratory in Medical Center of Clinical Research, Department of Molecular Diagnostics & Endocrinology, Shanghai Ninth People's Hospital, State Key Laboratory of Medical Genomics, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Wu FY

Subjects: Congenital Hypothyroidism*/Congenital Hypothyroidism*/Congenital Hypothyroidism*/diagnosis ; Congenital Hypothyroidism*/Congenital Hypothyroidism*/Congenital Hypothyroidism*/genetics; Humans

  • Source: Annals of laboratory medicine [Ann Lab Med] 2024 Jul 01; Vol. 44 (4), pp. 343-353. Date of Electronic Publication: 2024 Mar 04.Publisher: Korean Society for Laboratory Medicine Country of Publication: Korea (South) NLM ID: 101571172 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Increased incidence of congenital hypothyroidism in China: An analysis of 119 million screened newborns.

  • Authors : Yao Y; National Center for Birth Defects Monitoring of China, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.; Deng K

Subjects: Congenital Hypothyroidism*/Congenital Hypothyroidism*/Congenital Hypothyroidism*/diagnosis ; Congenital Hypothyroidism*/Congenital Hypothyroidism*/Congenital Hypothyroidism*/epidemiology ; Premature Birth*

  • Source: European journal of pediatrics [Eur J Pediatr] 2023 Oct; Vol. 182 (10), pp. 4477-4486. Date of Electronic Publication: 2023 Jul 26.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.

  • Authors : Feng X; Department of Pediatrics, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China.; Ping J

Subjects: Alagille Syndrome*/Alagille Syndrome*/Alagille Syndrome*/diagnosis ; Alagille Syndrome*/Alagille Syndrome*/Alagille Syndrome*/genetics ; Congenital Hypothyroidism*/Congenital Hypothyroidism*/Congenital Hypothyroidism*/genetics

  • Source: Scientific reports [Sci Rep] 2024 Jan 20; Vol. 14 (1), pp. 1812. Date of Electronic Publication: 2024 Jan 20.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Progress of newborn screening in China.

  • Authors : Jiang H; Department of Pediatrics, Shenzhen Guangming District People's Hospital, Shenzhen 518034, Guangdong Province, China. .; Yang R

Subjects: Phenylketonurias* ; Congenital Hypothyroidism*; Infant, Newborn

  • Source: Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences [Zhejiang Da Xue Xue Bao Yi Xue Ban] 2023 Dec 19; Vol. 52 (6), pp. 673-682. Date of Electronic Publisher: Zhejiang da xue xue bao bian ji bu Country of Publication: China NLM ID: 100927946 Publication Model: Electronic

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Academic Journal

Incidence tendency, etiological classification and outcome of congenital hypothyroidism in Guangzhou, China: an 11-year retrospective population-based study.

  • Authors : Tan MY; Department of Guangzhou Newborn Screening Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, P.R. China.; Jiang X

Subjects: Congenital Hypothyroidism*/Congenital Hypothyroidism*/Congenital Hypothyroidism*/diagnosis ; Congenital Hypothyroidism*/Congenital Hypothyroidism*/Congenital Hypothyroidism*/epidemiology ; Congenital Hypothyroidism*/Congenital Hypothyroidism*/Congenital Hypothyroidism*/etiology

  • Source: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2022 Aug 30; Vol. 35 (9), pp. 1141-1146. Date of Electronic Publication: 2022 Aug 30 (Print Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Electronic-Print Cited Medium: Internet ISSN:

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Academic Journal

Gene mutations in children with permanent congenital hypothyroidism in Yunnan, China.

  • Authors : Gong Y; 1. School of Medicine, Kunming University of Science and Technology, Kunming 650500, China.; 2. Department of Pediatrics, the First People's Hospital of Yunnan Province, Affiliated Hospital of Kunming University of Science and Technology, Kunming 650032, China.

Subjects: Congenital Hypothyroidism*/Congenital Hypothyroidism*/Congenital Hypothyroidism*/diagnosis ; Congenital Hypothyroidism*/Congenital Hypothyroidism*/Congenital Hypothyroidism*/genetics; China

  • Source: Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences [Zhejiang Da Xue Xue Bao Yi Xue Ban] 2022 Jun 25; Vol. 51 (3), pp. 306-313.Publisher: Zhejiang da xue xue bao bian ji bu Country of Publication: China NLM ID: 100927946 Publication Model: Print Cited

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Academic Journal

The mutation screening in candidate genes related to thyroid dysgenesis by targeted next-generation sequencing panel in the Chinese congenital hypothyroidism.

  • Authors : Zhang RJ; The Core Laboratory in Medical Center of Clinical Research, State Key Laboratory of Medical Genomics, Department of Molecular Diagnostics & Endocrinology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Yang GL

Subjects: Congenital Hypothyroidism*/Congenital Hypothyroidism*/Congenital Hypothyroidism*/diagnosis ; Congenital Hypothyroidism*/Congenital Hypothyroidism*/Congenital Hypothyroidism*/genetics ; Thyroid Dysgenesis*/Thyroid Dysgenesis*/Thyroid Dysgenesis*/genetics

  • Source: Clinical endocrinology [Clin Endocrinol (Oxf)] 2022 Apr; Vol. 96 (4), pp. 617-626. Date of Electronic Publication: 2021 Aug 09.Publisher: Blackwell Publishing Country of Publication: England NLM ID: 0346653 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism

  • Authors : Zhang CR; The Core Laboratory in Medical Center of Clinical Research, Department of Endocrinology, Shanghai Ninth People’s Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China; Shi YP

Subjects: Congenital Hypothyroidism*/Congenital Hypothyroidism*/Congenital Hypothyroidism*/diagnosis ; Congenital Hypothyroidism*/Congenital Hypothyroidism*/Congenital Hypothyroidism*/genetics ; Hearing Loss, Sensorineural*/Hearing Loss, Sensorineural*/Hearing Loss, Sensorineural*/genetics

  • Source: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2022 Mar 03; Vol. 14 (1), pp. 46-55. Date of Electronic Publication: 2021 Sep 21.Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Screening and Functional Analysis of TPO Gene Mutations in a Cohort of Chinese Patients With Congenital Hypothyroidism.

  • Authors : Wang H; The National Engineering Research Center for Miniaturized Detection Systems, Northwest University, Xi'an, China.; Wang W

Subjects: Autoantigens/Autoantigens/Autoantigens/*genetics ; Congenital Hypothyroidism/Congenital Hypothyroidism/Congenital Hypothyroidism/*genetics ; Iodide Peroxidase/Iodide Peroxidase/Iodide Peroxidase/*genetics

  • Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2021 Dec 21; Vol. 12, pp. 774941. Date of Electronic Publication: 2021 Dec 21 (Print Publication: 2021).Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print

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Academic Journal

Diagnostic re-evaluation and predictors of congenital hypothyroidism with eutopic thyroid gland in Jiangxi, China.

  • Authors : Chen SH; Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, Jiangxi, China.; Yang BC

Subjects: Congenital Hypothyroidism/Congenital Hypothyroidism/Congenital Hypothyroidism/*diagnosis ; Diagnostic Tests, Routine/Diagnostic Tests, Routine/Diagnostic Tests, Routine/*standards ; Infant, Newborn, Diseases/Infant, Newborn, Diseases/Infant, Newborn, Diseases/*diagnosis

  • Source: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2021 Jun 28; Vol. 34 (9), pp. 1139-1146. Date of Electronic Publication: 2021 Jun 28 (Print Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Electronic-Print Cited Medium: Internet ISSN:

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  • 1-10 of  276 results for ""Congenital Hypothyroidism""