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Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 12, pp. 1375 - 1381
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2012, Volume 7, Issue 4, pp. e34442 - e34442
Hypothyroidism is the most common thyroid disorder, affecting about 5% of the general population. Here we present the current largest genome-wide association... 
ALLELE | GENE VARIANTS | BIOLOGY | GRAVES-DISEASE | SUSCEPTIBILITY LOCI | THYROID-DISEASE | VAV FAMILY | PHOSPHODIESTERASE | HASHIMOTOS-THYROIDITIS | GENOME-WIDE ASSOCIATION | R620W POLYMORPHISM | Genome-Wide Association Study | Proto-Oncogene Proteins c-vav - genetics | Humans | Hypothyroidism - complications | Middle Aged | Protein Tyrosine Phosphatase, Non-Receptor Type 22 - genetics | Autoimmune Diseases - complications | Male | Risk | Histocompatibility Antigens Class I - genetics | California | Genetic Loci | Forkhead Transcription Factors - genetics | Case-Control Studies | Autoimmune Diseases - genetics | Proteins - genetics | Adult | Female | Surveys and Questionnaires | Aged | Polymorphism, Single Nucleotide | Hypothyroidism - genetics | Genome, Human | Thyroid gland | Thyroid hormones | Hypothyroidism | Genomics | Transcription factors | Parkinsons disease | Genomes | Arthritis | Single-nucleotide polymorphism | Hormones | Proteins | CTLA-4 protein | Etiology | Risk assessment | Classification | Population | Thyroid | Iodine | Antigens | Congenital diseases | Immune response | Hyperthyroidism | Gene expression | Crohns disease | Diseases | Studies | Thyroid-stimulating hormone | Thyroid cancer | Histocompatibility antigen HLA | Diabetes | Mutation | Autoimmune diseases | Protein-tyrosine-phosphatase | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2018, Volume 13, Issue 9, pp. e0204323 - e0204323
Objective Results of the screening of disease causative mutations in congenital hypothyroidism (CH) vary significantly, depending on the sequence strategy,... 
MONOALLELIC EXPRESSION | PENDRED-SYNDROME | THYROID PEROXIDASE GENE | THYROTROPIN RECEPTOR | MULTIDISCIPLINARY SCIENCES | DYSGENESIS | SEQUENCE VARIANTS | IODIDE ORGANIFICATION DEFECTS | COHORT | CAUSATIVE GENES | IDENTIFICATION | Severity of Illness Index | Sulfate Transporters - genetics | Receptors, Thyrotropin - genetics | Humans | Child, Preschool | Infant | Male | Multiplex Polymerase Chain Reaction | Autoantigens - genetics | Sequence Analysis, DNA | Polymorphism, Genetic | Adolescent | Congenital Hypothyroidism - genetics | Congenital Hypothyroidism - pathology | Female | Iron-Binding Proteins - genetics | Thyroid Nuclear Factor 1 - genetics | High-Throughput Nucleotide Sequencing | Iodide Peroxidase - genetics | Dual Oxidases - genetics | Child | Care and treatment | Usage | Gene mutations | Genetic aspects | Research | Hypothyroidism | Medical screening | Risk factors | Neonates | Pediatrics | Laboratories | Genes | Genomics | Otolaryngology | Thyroid gland | Guidelines | Gene sequencing | Genetics | Bioinformatics | Nkx2.5 protein | Deoxyribonucleic acid--DNA | Thyroid | Congenital diseases | Olefinic thermoplastic elastomers | Hearing impairment | Metabolism | Patients | Thyroid-stimulating hormone receptors | Studies | Screening | Thyroid-stimulating hormone | Mutation | Thyroid transcription factor 1 | Endocrinology | Pax8 protein | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
European journal of endocrinology, ISSN 0804-4643, 06/2018, Volume 178, Issue 6, pp. 623 - 633
Journal Article
Journal Article