| scholarly article | Q13442814 |
| P50 | author | Samuel Refetoff | Q92578753 |
| P2093 | author name string | S Refetoff | |
| S M Jhiang | |||
| R E Weiss | |||
| C Burant | |||
| I M Rosenthal | |||
| J Pohlenz | |||
| P2860 | cites work | Mammalian facilitative glucose transporters: evidence for similar substrate recognition sites in functionally monomeric proteins | Q48418596 |
| Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis | Q58183752 | ||
| Congenital hypothyroidism | Q68076218 | ||
| Expression of the thyroid sodium/iodide symporter in Xenopus laevis oocytes | Q69652285 | ||
| Partial Defect of Iodide Trapping Mechanism in Two Siblings with Congenital Goiter and Hypothyroidism | Q70433358 | ||
| Iodide transport in a continuous line of cultured cells from rat thyroid | Q71296565 | ||
| Sequence-based typing of HLA-A2 alleles using a primer with an extra base mismatch | Q71742042 | ||
| The Salivary Iodide Trap in Nontoxic Goiter | Q72016582 | ||
| Construction of a novel database containing aberrant splicing mutations of mammalian genes | Q72375551 | ||
| Some observations on cretinism and its treatment | Q78395287 | ||
| Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption | Q24317312 | ||
| Cloning of the human sodium lodide symporter | Q24323256 | ||
| RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression | Q24633499 | ||
| Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan | Q24672499 | ||
| Congenital hypothyroidism caused by a mutation in the Na+/I- symporter | Q28239740 | ||
| Expression, exon-intron organization, and chromosome mapping of the human sodium iodide symporter | Q28244379 | ||
| Cloning and characterization of the thyroid iodide transporter | Q28273142 | ||
| Membrane topology of the human Na+/glucose cotransporter SGLT1 | Q28273665 | ||
| A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection | Q28277109 | ||
| Comparison of Epidemiological Data on Congenital Hypothyroidism in Europe with Those of Other Parts in the World | Q30828116 | ||
| Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families | Q35610104 | ||
| Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland | Q37369111 | ||
| Mutations of CpG dinucleotides located in the triiodothyronine (T3)-binding domain of the thyroid hormone receptor (TR) beta gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical ph | Q38305730 | ||
| Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism | Q40822815 | ||
| Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing | Q41478328 | ||
| Defects in RNA splicing and the consequence of shortened translational reading frames | Q42590534 | ||
| Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene | Q45104766 | ||
| Deoxyribonucleic acid analyses of five families with familial inherited thyroid stimulating hormone deficiency | Q46310731 | ||
| Compound missense mutations in the sodium/D-glucose cotransporter result in trafficking defects | Q46467534 | ||
| P433 | issue | 5 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | congenital hypothyroidism | Q531012 |
| congenital disorder | Q727096 | ||
| P304 | page(s) | 1028-35 | |
| P577 | publication date | 1998-03-01 | |
| P1433 | published in | Journal of Clinical Investigation | Q3186904 |
| P1476 | title | Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site | |
| P478 | volume | 101 |
| Q34269861 | An Outline of Inherited Disorders of the Thyroid Hormone Generating System |
| Q24817064 | Biased exon/intron distribution of cryptic and de novo 3' splice sites |
| Q42408436 | Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect |
| Q36858518 | Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase. |
| Q73247275 | Detection of mRNA of sodium iodide symporter in benign and malignant human thyroid tissues |
| Q36643235 | Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma |
| Q51829978 | Diagnosis of Iodide Transport Defect: Do We Need to Measure the Saliva/Serum Radioactive Iodide Ratio to Diagnose Iodide Transport Defect? |
| Q33730690 | Euthyroid athyroxinemia - a novel endocrine syndrome |
| Q74290105 | Expression of sodium iodide symporter in benign and malignant human thyroid tissues |
| Q27690798 | Genetic causes of congenital hypothyroidism due to dyshormonogenesis |
| Q26799545 | Genetic disorders coupled to ROS deficiency |
| Q24810715 | Genetic factors that might lead to different responses in individuals exposed to perchlorate |
| Q37691930 | Genetics and phenomics of hypothyroidism and goiter due to NIS mutations |
| Q35448393 | Genetics of congenital hypothyroidism |
| Q33861632 | Genomic features defining exonic variants that modulate splicing |
| Q58599340 | Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism |
| Q37139488 | Inherited epithelial transporter disorders--an overview |
| Q90063808 | Mapping of Ion and Substrate Binding Sites in Human Sodium Iodide Symporter (hNIS) |
| Q36692045 | Molecular characterization of V59E NIS, a Na+/I- symporter mutant that causes congenital I- transport defect. |
| Q33665843 | Molecular genetics of congenital hypothyroidism |
| Q33685898 | Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism |
| Q37264277 | Na+ coordination at the Na2 site of the Na+/I- symporter |
| Q42523612 | Pathological Findings in Dyshormonogenetic Goiter with Defective Iodide Transport |
| Q33818742 | Recent advances in understanding the molecular basis of primary congenital hypothyroidism |
| Q34040124 | TRANSCRIPTION FACTOR GLI-SIMILAR 3 (GLIS3): IMPLICATIONS FOR THE DEVELOPMENT OF CONGENITAL HYPOTHYROIDISM. |
| Q33955248 | The immune response to the iodide transporter |
| Q34975947 | The sodium iodide symporter: its pathophysiological and therapeutic implications |
| Q34444307 | The spectrum of thyroid diseases in childhood and its evolution during transition to adulthood: natural history, diagnosis, differential diagnosis and management |
| Q34022499 | Thyroid disease in relation to pregnancy: a decade of change. |
| Q77467892 | [MELAS syndrome in a five year-old child: clinical, biological and genetic characteristics] |
Search more.