Genetics of primary congenital hypothyroidism—a review
E Kostopoulou, K Miliordos, B Spiliotis - Hormones, 2021 - Springer
Purpose Congenital primary hypothyroidism (CH) is a state of inadequate thyroid hormone
production detected at birth, caused either by absent, underdeveloped or ectopic thyroid …
production detected at birth, caused either by absent, underdeveloped or ectopic thyroid …
Clinical genetics of congenital hypothyroidism
G Szinnai - Paediatric Thyroidology, 2014 - karger.com
Congenital hypothyroidism (CH) is a state of insufficient thyroid hormone supply to the
organism, starting in utero. Two forms of permanent primary or thyroidal CH are known …
organism, starting in utero. Two forms of permanent primary or thyroidal CH are known …
New genetics in congenital hypothyroidism
A Stoupa, D Kariyawasam, M Muzza, T de Filippis… - Endocrine, 2021 - Springer
Introduction Congenital hypothyroidism (CH) is the most frequent neonatal endocrine
disorder and one of the most common preventable forms of mental retardation worldwide …
disorder and one of the most common preventable forms of mental retardation worldwide …
Perspective: genetic defects in the etiology of congenital hypothyroidism
P Kopp - Endocrinology, 2002 - academic.oup.com
Congenital hypothyroidism affects about 1: 3000 to 1: 4000 infants and may be caused by
defects in thyroidal ontogeny or hormone synthesis. The impressive advances in molecular …
defects in thyroidal ontogeny or hormone synthesis. The impressive advances in molecular …
Genetics and management of congenital hypothyroidism
L Persani, G Rurale, T de Filippis, E Galazzi… - Best Practice & …, 2018 - Elsevier
Several evidences support a relevant genetic origin for Congenital Hypothyroidism (CH),
however familial forms are uncommon. CH can be due to morphogenetic or functional …
however familial forms are uncommon. CH can be due to morphogenetic or functional …
Genetic causes of congenital hypothyroidism due to dyshormonogenesis
H Grasberger, S Refetoff - Current opinion in pediatrics, 2011 - journals.lww.com
Congenital hypothyroidism due to thyroid dyshormonogenesis is a heterogenic disorder that
may be caused by mutations in any of the known steps in the thyroid hormone biosynthesis …
may be caused by mutations in any of the known steps in the thyroid hormone biosynthesis …
Genetics of congenital hypothyroidism
SM Park, VKK Chatterjee - Journal of medical genetics, 2005 - jmg.bmj.com
Congenital hypothyroidism is the most common neonatal metabolic disorder and results in
severe neurodevelopmental impairment and infertility if untreated. Congenital …
severe neurodevelopmental impairment and infertility if untreated. Congenital …
Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis
M Zou, AS Alzahrani, A Al-Odaib… - The Journal of …, 2018 - academic.oup.com
Context Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder,
affecting one in 3000 to 4000 newborns. Since the introduction of a newborn screening …
affecting one in 3000 to 4000 newborns. Since the introduction of a newborn screening …
Molecular genetics of congenital hypothyroidism
PE Macchia, M De Felice, R Di Laurot - Current opinion in genetics & …, 1999 - Elsevier
Congenital thyroid gland defects—resulting in reduced production of the hormones
triiodothyronine (T3) and thyroxine (T4)—can be a consequence of either reduced or absent …
triiodothyronine (T3) and thyroxine (T4)—can be a consequence of either reduced or absent …
Genetics of specific phenotypes of congenital hypothyroidism: a population-based approach
F Calaciura, G Miscio, A Coco, D Leonardi… - Thyroid, 2002 - liebertpub.com
Congenital hypothyroidism (CH) may cause severe and irreversible neurologic and
developmental abnormalities when not recognized early. Many millions of newborns have …
developmental abnormalities when not recognized early. Many millions of newborns have …
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