Cargando…

Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism

OBJECTIVES: Defects in the human thyroid peroxidase (TPO) gene are reported to be one of the causes of congenital hypothyroidism (CH) due to dyshormonogenesis. The aim of this study was to examine the TPO mutation spectrum and prevalence among patients with CH in the Guangxi Zhuang Autonomous Region...

Descripción completa

Detalles Bibliográficos
Autores principales:	Fu, Chunyun, Xie, Bobo, Zhang, Shujie, Wang, Jin, Luo, Shiyu, Zheng, Haiyang, Su, Jiasun, Hu, Xuyun, Chen, Rongyu, Fan, Xin, Luo, Jingsi, Gu, Xuefan, Chen, Shaoke
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2016
Materias:	Diabetes and Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4874165/ https://www.ncbi.nlm.nih.gov/pubmed/27173810 http://dx.doi.org/10.1136/bmjopen-2015-010719

Ejemplares similares

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism
por: Fu, Chunyun, et al.
Publicado: (2015)

The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH
por: Fu, Chunyun, et al.
Publicado: (2017)

Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability
por: Zhang, Shujie, et al.
Publicado: (2016)

Genetic Basis of Congenital Central Hypothyroidism in Children: Expanding the Mutational Spectrum of POU1F1 and ATP6V0A4
por: Fu, Chunyun, et al.
Publicado: (2023)

Screening and Functional Analysis of TPO Gene Mutations in a Cohort of Chinese Patients With Congenital Hypothyroidism
por: Wang, Huijjuan, et al.
Publicado: (2021)

de novo interstitial deletions at the 11q23.3-q24.2 region
por: Su, Jiasun, et al.
Publicado: (2016)

Cardiac Autonomic Modulation and Anti-Thyroid Peroxidase (TPO) Antibodies in Subclinical Hypothyroidism: Does a Correlation Exist?
por: Mavai, Manisha, et al.
Publicado: (2021)

Clinical and molecular evaluations of siblings with “pure” 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3)
por: Chen, Rongyu, et al.
Publicado: (2014)

A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features
por: Xie, Bobo, et al.
Publicado: (2016)

Case Report - Multinodular goiter in a patient with Congenital Hypothyroidism and Bannayan-Riley-Ruvalcaba syndrome: the possible synergic role of TPO and PTEN mutation
por: Vincenzi, Gaia, et al.
Publicado: (2023)

Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates
por: Fu, Chunyun, et al.
Publicado: (2018)

A Neonate With Diabetes Mellitus, Congenital Hypothyroidism, and Congenital Glaucoma
por: Boddu, Praveen Kumar, et al.
Publicado: (2022)

Congenital Anomalies in Infant With Congenital Hypothyroidism: A Review of Pathogenesis, Diagnostic Options, and Management Protocols
por: Uthayaseelan, Kivonika, et al.
Publicado: (2022)

Novel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability
por: Khan, Amjad, et al.
Publicado: (2020)

Pituitary Macroadenoma Secondary to Congenital Hypothyroidism With Growth Failure and Developmental Delay: A Rare Presentation
por: Lohiya, Sham, et al.
Publicado: (2023)

One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism
por: Cangül, Hakan, et al.
Publicado: (2014)

Hypothyroidism and diabetes mellitus – a risky dual gestational endocrinopathy
por: Tirosh, Dan, et al.
Publicado: (2013)

Effect of levothyroxine on the progression of carotid intima-media thickness in subclinical hypothyroidism patients: a meta-analysis
por: Zhao, Tong, et al.
Publicado: (2017)

EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome
por: Li, Chuan, et al.
Publicado: (2015)

Hypothyroidism and related diseases: a methodological quality assessment of meta-analysis
por: Tian, Limin, et al.
Publicado: (2019)

Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort
por: Long, Wei, et al.
Publicado: (2021)

Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene‐disease relationship
por: Lu, Weiliang, et al.
Publicado: (2020)

Diagnosis and Management of Central Congenital Hypothyroidism
por: Lauffer, Peter, et al.
Publicado: (2021)

Relationship Between Loneliness and Hypothyroidism
por: Alshehri, Khalid, et al.
Publicado: (2021)

An Unusual Cause of Refractory Hypothyroidism
por: Mirgoli, Omead J, et al.
Publicado: (2022)

Time to Hypothyroidism Following Hemithyroidectomy
por: Abraham, Christa R, et al.
Publicado: (2022)

Attitudes and perceptions of health professionals towards management of hypothyroidism in general practice: a qualitative interview study
por: Dew, Rosie, et al.
Publicado: (2018)

Adherence to Levothyroxine Tablet in Patients with Hypothyroidism
por: Kumar, Rohan, et al.
Publicado: (2019)

Recurrent Rhabdomyolysis Induced by Severe Hypothyroidism
por: Boryushkina, Varvara, et al.
Publicado: (2019)

Minerals: An Untapped Remedy for Autoimmune Hypothyroidism?
por: Khan, Seyad Zulficar Ali, et al.
Publicado: (2020)

Isolated Central Hypothyroidism in an Adolescent With Narcolepsy
por: Alhajri, Sana, et al.
Publicado: (2020)

Primary Amenorrhea With Hypothyroidism: Finding the Cause
por: Alvi, Asim Munir, et al.
Publicado: (2021)

Graves’ Ophthalmopathy in the Setting of Primary Hypothyroidism
por: Alajmi, Sarah, et al.
Publicado: (2022)

Hypothyroidism and Depression: A Narrative Review
por: Nuguru, Surya P, et al.
Publicado: (2022)

Clinical Manifestations of Severe Untreated Hypothyroidism
por: Bhutada, Abhishek S, et al.
Publicado: (2022)

Analysis of Mutation Spectra of 28 Pathogenic Genes Associated With Congenital Hypothyroidism in the Chinese Han Population
por: Huang, Miao, et al.
Publicado: (2021)

Myxedema Ascites: An Unusual Presentation of Uncontrolled Hypothyroidism
por: Dhingra, Rohit, et al.
Publicado: (2018)

Autoimmune Thyroiditis with Hypothyroidism Induced by Sugar Substitutes
por: Sachmechi, Issac, et al.
Publicado: (2018)

Rhabdomyolysis Secondary to Hypothyroidism: Report of a Case
por: Alshamam, Mohsen S, et al.
Publicado: (2021)

Predictors and Consequences of Inappropriate Thyroid Ultrasound in Hypothyroidism
por: Barrett, Kaitlyn V, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_amg713ie2fqevv10mf90qgt1ps