Associated Papers
A novel pathogenic DICER1 gene variant is associated with hereditary multinodular goiter in an Argentine family as evidenced by clinical, biochemical and molecular genetic analysis.
Targovnik HM et al.
Endocrine, 2025
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1
WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion.
Huynh MT et al.
American Journal of Medical Genetics. Part A, 2017
Molecular Analysis of TTF-1 and TTF-2 Genes in Patients with Early Onset Papillary Thyroid Carcinoma.
Espadinha C et al.
Journal of Oncology, 2012
FOXE1 gene mutation screening by multiplex PCR/DHPLC in CHARGE syndrome and syndromic and non-syndromic cleft palate.
Venza M et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences, 2006
Gene symbol: FOXE1. Disease: Nonsyndromic cleft palate. Accession #Hm0535.
Teti D et al.
Human Genetics, 2006
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