Literature DB >> 24129411

Importance of molecular genetic analysis in the diagnosis and classification of congenital hypothyroidism.

Héctor M Targovnik1.   

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Year:  2013        PMID： 24129411     DOI： 10.1007/s12020-013-0075-z

Source DB:  PubMed          Journal:  Endocrine        ISSN： 1355-008X            Impact factor:   3.633


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  9 in total

1.  Oxidoreductase interactions include a role for ERp72 engagement with mutant thyroglobulin from the rdw/rdw rat dwarf.

Authors:  Shekar Menon; Jaemin Lee; William A Abplanalp; Sung-Eun Yoo; Takashi Agui; Sen-Ichi Furudate; Paul S Kim; Peter Arvan
Journal:  J Biol Chem       Date:  2007-01-02       Impact factor: 5.157

2.  Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothyroidism.

Authors:  Cintia E Citterio; Liliana C Rossetti; Pierre F Souchon; Cecilia Morales; Mathilde Thouvard-Viprey; Anne S Salmon-Musial; Pierre L A Mauran; Martine Doco-Fenzy; Rogelio González-Sarmiento; Carina M Rivolta; Carlos D De Brasi; Héctor M Targovnik
Journal:  Mol Cell Endocrinol       Date:  2013-08-07       Impact factor: 4.102

3.  The cholinesterase-like domain of thyroglobulin functions as an intramolecular chaperone.

Authors:  Jaemin Lee; Bruno Di Jeso; Peter Arvan
Journal:  J Clin Invest       Date:  2008-08       Impact factor: 14.808

4.  A nonsense mutation causes hereditary goitre in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts.

Authors:  M H Ricketts; M J Simons; J Parma; L Mercken; Q Dong; G Vassart
Journal:  Proc Natl Acad Sci U S A       Date:  1987-05       Impact factor: 11.205

Review 5.  Thyroglobulin gene mutations in congenital hypothyroidism.

Authors:  Héctor M Targovnik; Cintia E Citterio; Carina M Rivolta
Journal:  Horm Res Paediatr       Date:  2011-03-03       Impact factor: 2.852

6.  A missense mutation G2320R in the thyroglobulin gene causes non-goitrous congenital primary hypothyroidism in the WIC-rdw rat.

Authors:  P S Kim; M Ding; S Menon; C G Jung; J M Cheng; T Miyamoto; B Li; S Furudate; T Agui
Journal:  Mol Endocrinol       Date:  2000-12

Review 7.  Congenital hypothyroidism.

Authors:  Maynika V Rastogi; Stephen H LaFranchi
Journal:  Orphanet J Rare Dis       Date:  2010-06-10       Impact factor: 4.123

Review 8.  Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations.

Authors:  Héctor M Targovnik; Sebastián A Esperante; Carina M Rivolta
Journal:  Mol Cell Endocrinol       Date:  2010-01-20       Impact factor: 4.102

9.  Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism.

Authors:  Hakan Cangul; Kristien Boelaert; Murat Dogan; Yaman Saglam; Michaela Kendall; Timothy G Barrett; Eamonn R Maher
Journal:  Endocrine       Date:  2013-08-15       Impact factor: 3.633
  9 in total
  1 in total

1.  Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis.

Authors:  Isabelle Oliver-Petit; Thomas Edouard; Virginie Jacques; Marie Bournez; Audrey Cartault; Solange Grunenwald; Frédérique Savagner
Journal:  Front Endocrinol (Lausanne)       Date:  2021-06-24       Impact factor: 5.555
  1 in total

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