Clinical and Molecular Genetics Studies in Pendred's Syndrome
Data up to Jan 2025
Total Citations Per Year
Abstract
References (19)
Detection of specific sequences among DNA fragments separated by gel electrophoresis
1975 • 33,059 citations
Human thyroid peroxidase: complete cDNA and protein sequence, chromosome mapping, and identification of two alternately spliced mRNAs.
1987 • 286 citations
Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.
1992 • 193 citations
ASSOCIATION OF CONGENITAL DEAFNESS WITH GOITRE THE NATURE OF THE THYROID DEFECT
1958 • 167 citations
SEQUENCES OF INTEREST: Molecular Cloning of the Complementary Deoxyribonucleic Acid for Human Thyroid Peroxidase
1987 • 114 citations
Complete nucleotide sequence of the human thyroperoxidase-microsomal antigen cDNA
1987 • 79 citations
Fifteen Cases of Pendred's Syndrome: Congenital Deafness and Sporadic Goiter
1972 • 58 citations
Gammaglobulin groups of the Khoisan peoples of Southern Africa: evidence for polymorphism for a Gm1,5,13,14,21 haplotype among the San.
1975 • 51 citations
Evaluation and Limitations of the Perchlorate Test in the Study of Thyroid Function
1963 • 47 citations
Defective Organification of Iodide Causing Hereditary Goitrous Hypothyroidism
1993 • 39 citations
Genetic Linkage Studies of Thyroid Peroxidase (TPO) Gene in Families with TPO Deficiency*
1991 • 36 citations
Normal Peroxidase Activity in Pendred's Syndrome
1973 • 27 citations
Investigation of the ZFY gene in XX true hermaphroditism and Swyer syndrome
1990 • 26 citations
CT-Scanning of the cochlea in Pendred's syndrome
1989 • 25 citations
The variable intrafamiliar expressivity in Pendred's syndrome
1989 • 22 citations
Studies on the Thyroidal Defect in an Atypical Form of Pendred's Syndrome*
1975 • 19 citations
Thyroid function in patients with Pendred’s syndrome
1988 • 17 citations
Towards the eradication of iodine-deficiency disorders in Brazil through a salt iodination programme.
1988 • 15 citations
Perkussion und Auscultation
1924 • 9 citations