Literature DB >> 1549396

Congenital hypothyroidism.

A Gruters1.   

Abstract

Because of the lack of signs and symptoms in the first weeks of life, the most important tool for the early diagnosis of congenital hypothyroidism is a newborn screening program.

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Year:  1992        PMID： 1549396     DOI： 10.3928/0090-4481-19920101-06

Source DB:  PubMed          Journal:  Pediatr Ann        ISSN： 0090-4481            Impact factor:   1.132


  8 in total

1.  Contribution of genetic factors to neonatal transient hypothyroidism.

Authors:  D-M Niu; C-Y Lin; B Hwang; T-S Jap; C-J Liao; J-Y Wu
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  2005-01       Impact factor: 5.747

2.  Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.

Authors:  J Pohlenz; I M Rosenthal; R E Weiss; S M Jhiang; C Burant; S Refetoff
Journal:  J Clin Invest       Date:  1998-03-01       Impact factor: 14.808

3.  Newborn thyroxine levels and childhood ADHD.

Authors:  Offie Porat Soldin; Arvind K N Nandedkar; Knoxley M Japal; Mark Stein; Shiela Mosee; Phyllis Magrab; Shenghan Lai; Steven H Lamm
Journal:  Clin Biochem       Date:  2002-03       Impact factor: 3.281

4.  Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.

Authors:  Noura Bougacha-Elleuch; Nadia Charfi; Nabil Miled; Houda Bouhajja; Neila Belguith; Mouna Mnif; Paula Jaurge; Nessrine Chikhrouhou; Hammadi Ayadi; Mongia Hachicha; Mohamed Abid
Journal:  Eur J Pediatr       Date:  2015-05-13       Impact factor: 3.183

5.  Lack of a relation between human neonatal thyroxine and pediatric neurobehavioral disorders.

Authors:  Offie Porat Soldin; Shenghan Lai; Steven H Lamm; Shiela Mosee
Journal:  Thyroid       Date:  2003-02       Impact factor: 6.568

6.  A Novel Missense Mutation in the Thyroid Peroxidase Gene, R175Q, Resulting in Insufficient Cell Surface Enzyme in Two Siblings.

Authors:  Tomio Kotani; Kazumi Umeki; Jun-Ichi Kawano; Tatsuo Suganuma; Ikuo Yamamoto; Yatsuki Aratake; Yozo Ichiba; Mahoko Furujo
Journal:  Clin Pediatr Endocrinol       Date:  2004-07-07

7.  The Pathogenic TSH β-subunit Variant C105Vfs114X Causes a Modified Signaling Profile at TSHR.

Authors:  Laura Kalveram; Gunnar Kleinau; Kamila Szymańska; Patrick Scheerer; Adolfo Rivero-Müller; Annette Grüters-Kieslich; Heike Biebermann
Journal:  Int J Mol Sci       Date:  2019-11-07       Impact factor: 5.923

8.  A Novel, Homozygous c.1502T>G (p.Val501Gly) Mutation in the Thyroid peroxidase Gene in Malaysian Sisters with Congenital Hypothyroidism and Multinodular Goiter.

Authors:  Ching Chin Lee; Fatimah Harun; Muhammad Yazid Jalaludin; Choon Han Heh; Rozana Othman; Sarni Mat Junit
Journal:  Int J Endocrinol       Date:  2013-04-29       Impact factor: 3.257
  8 in total

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