Literature DB >> 21689132

Molecular analysis of the PAX8 gene in a sample of Mexican patients with primary congenital hypothyroidism: identification of the recurrent p.Arg31His mutation.

Miguel Angel Alcántara-Ortigoza, Ariadna González-del Angel, Víctor Martínez-Cruz, Marcela Vela-Amieva, Carmen Sánchez-Pérez, Rosario Moreno-Rojas, Bernardette Estandía-Ortega, Nancy Hernández-Martínez.   

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Year:  2012        PMID： 21689132     DOI： 10.1111/j.1365-2265.2011.04153.x

Source DB:  PubMed          Journal:  Clin Endocrinol (Oxf)        ISSN： 0300-0664            Impact factor:   3.478


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  2 in total

1.  Gene Variants in NKX2-1 Do Not Represent a Major Etiological Factor of Primary Congenital Hypothyroidism in Mexican Population.

Authors:  Ariadna González-Del Angel; Liliana Fernández-Hernández; Iraís Sánchez-Verdiguel; Aidy González-Núñez; Víctor Martínez-Cruz; Carmen Sánchez; Rosario Moreno-Rojas; Miguel Angel Alcántara-Ortigoza
Journal:  J Pediatr Genet       Date:  2019-01-02

2.  Further Evidence That Defects in Main Thyroid Dysgenesis-Related Genes Are an Uncommon Etiology for Primary Congenital Hypothyroidism in Mexican Patients: Report of Rare Variants in FOXE1, NKX2-5 and TSHR.

Authors:  Miguel Angel Alcántara-Ortigoza; Iraís Sánchez-Verdiguel; Liliana Fernández-Hernández; Sergio Enríquez-Flores; Aidy González-Núñez; Nancy Leticia Hernández-Martínez; Carmen Sánchez; Ariadna González-Del Angel
Journal:  Children (Basel)       Date:  2021-05-30
  2 in total

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