Genetics of congenital hypothyroidism

The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary.

1996 • 1,208 citations

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

1997 • 1,123 citations

Cloning and characterization of the thyroid iodide transporter

1996 • 1,104 citations

STRUCTURE AND FUNCTION OF G PROTEIN-COUPLED RECEPTORS

1994 • 1,070 citations

The structure and function of the homeodomain

1989 • 1,007 citations

Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas

1993 • 907 citations

The transcription factor TTF-1 is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of the foetal brain

1991 • 882 citations

Identification of Monocarboxylate Transporter 8 as a Specific Thyroid Hormone Transporter

2003 • 675 citations

A Novel Syndrome Combining Thyroid and Neurological Abnormalities Is Associated with Mutations in a Monocarboxylate Transporter Gene

2004 • 663 citations

Follicular cells of the thyroid gland require Pax8 gene function

1998 • 610 citations

The Thyrotropin Receptor and the Regulation of Thyrocyte Function and Growth*

1992 • 592 citations

NK-2Homeobox Genes and Heart Development

1996 • 574 citations

Thyroid nuclear factor 1 (TTF-1) contains a homeodomain and displays a novel DNA binding specificity.

1990 • 545 citations

PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis

1998 • 498 citations

Inactivating Mutations in the Gene for Thyroid Oxidase 2 (THOX2) and Congenital Hypothyroidism

2002 • 460 citations

Timing of Vulnerability of the Brain to Iodine Deficiency in Endemic Cretinism

1994 • 454 citations

The role of Hoxa-3 in mouse thymus and thyroid development

1995 • 421 citations

Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia

1998 • 420 citations

Pendrin, the Protein Encoded by the Pendred Syndrome Gene (PDS), Is an Apical Porter of Iodide in the Thyroid and Is Regulated by Thyroglobulin in FRTL-5 Cells

2000 • 389 citations

A thyroid-specific nuclear protein essential for tissue-specific expression of the thyroglobulin promoter.

1989 • 382 citations

Isolation and characterization of the human Gs alpha gene.

1988 • 379 citations

Germline mutations in the thyrotropin receptor gene cause non–autoimmune autosomal dominant hyperthyroidism

1994 • 376 citations

A deletion in chromosome 22 can cause digeorge syndrome

1981 • 366 citations

Resistance to Thyrotropin Caused by Mutations in the Thyrotropin-Receptor Gene

1995 • 333 citations

A mouse model for hereditary thyroid dysgenesis and cleft palate

1998 • 326 citations

Pax genes and their roles in cell differentiation and development

1996 • 325 citations

Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency

2002 • 312 citations

Sensory ataxia and muscle spindle agenesis in mice lacking the transcription factor Egr3

1998 • 304 citations

Lung Cell-specific Expression of the Murine Surfactant Protein A (SP-A) Gene Is Mediated by Interactions between the SP-A Promoter and Thyroid Transcription Factor-1

1995 • 277 citations

TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation

1997 • 268 citations

The Paired-Domain Transcription Factor Pax8 Binds to the Upstream Enhancer of the Rat Sodium/Iodide Symporter Gene and Participates in Both Thyroid-Specific and Cyclic-AMP-Dependent Transcription

1999 • 255 citations

Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.

1997 • 255 citations

Pax8 has a key role in thyroid cell differentiation

2000 • 244 citations

Role of the thyroid-stimulating hormone receptor signaling in development and differentiation of the thyroid gland

2002 • 240 citations

Influence of timing and dose of thyroid hormone replacement on development in infants with congenital hypothyroidism

2000 • 235 citations

Nineteen Years of National Screening for Congenital Hypothyroidism: Familial Cases with Thyroid Dysgenesis Suggest the Involvement of Genetic Factors

2001 • 224 citations

PAX8, a human paired box gene: isolation and expression in developing thyroid, kidney and Wilms’ tumors

1992 • 223 citations

Thyroid-specific gene expression

1994 • 218 citations

Mutations in TITF-1 are associated with benign hereditary chorea

2002 • 217 citations

Expression, Exon-Intron Organization, and Chromosome Mapping of the Human Sodium Iodide Symporter

1997 • 216 citations

The thyrotropin receptor and the regulation of thyrocyte function and growth

1992 • 214 citations

Cell-Type-Specific Expression of the Rat Thyroperoxidase Promoter Indicates Common Mechanisms for Thyroid-Specific Gene Expression

1992 • 210 citations

Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.

1992 • 193 citations

Identification of a point mutation in the thyrotropin receptor of the hyt/hyt hypothyroid mouse.

1994 • 182 citations

Partial deficiency of Thyroid transcription factor 1 produces predominantly neurological defects in humans and mice

2002 • 182 citations

Two Decades of Screening for Congenital Hypothyroidism in the Netherlands: TPO Gene Mutations in Total Iodide Organification Defects (an Update)

2000 • 181 citations

Mutations of the Human Thyrotropin Receptor Gene Causing Thyroid Hypoplasia and Persistent Congenital Hypothyroidism¹

1997 • 180 citations

Relation between biochemical severity and intelligence in early treated congenital hypothyroidism: a threshold effect

1994 • 179 citations

Outcome of severe congenital hypothyroidism: closing the developmental gap with early high dose levothyroxine treatment.

1996 • 177 citations

Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure

2000 • 169 citations

Composite structure of the human thyrotropin receptor gene

1991 • 163 citations

A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate

2002 • 161 citations

Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4)

2000 • 161 citations

Partial deficiency of Thyroid transcription factor 1 produces predominantly neurological defects in humans and mice

2002 • 159 citations

The H2O2-Generating System Modulates Protein Iodination and the Activity of the Pentose Phosphate Pathway in Dog Thyroid*

1991 • 158 citations

Four families with loss of function mutations of the thyrotropin receptor.

1996 • 157 citations

The ultimobranchial gland and congenital thyroid abnormalities in man

1989 • 156 citations

Comparison of Epidemiological Data on Congenital Hypothyroidism in Europe with Those of Other Parts in the World

1992 • 156 citations

Autosomal Dominant Transmission of Congenital Thyroid Hypoplasia Due to Loss-of-Function Mutation of PAX8¹

2001 • 156 citations

Neuropsychologic Development in Early Treated Congenital Hypothyroidism: Analysis of Literature Data

1996 • 153 citations

Apparent Congenital Athyreosis Contrasting with Normal Plasma Thyroglobulin Levels and Associated with Inactivating Mutations in the Thyrotropin Receptor Gene: Are Athyreosis and Ectopic Thyroid Distinct Entities?1

1998 • 147 citations

Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy.

1994 • 147 citations

Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene

2000 • 146 citations

Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics

1998 • 145 citations

Germline Mutations of TSH Receptor Gene as Cause of Nonautoimmune Subclinical Hypothyroidism

2002 • 141 citations

A Novel Mutation (Q40P) in PAX8 Associated with Congenital Hypothyroidism and Thyroid Hypoplasia: Evidence for Phenotypic Variability in Mother and Child

2001 • 139 citations

Congenital hypothyroid goiter with deficient thyroglobulin. Identification of an endoplasmic reticulum storage disease with induction of molecular chaperones.

1996 • 133 citations

Activating and inactivating mutations in the human GNAS1 gene

2000 • 133 citations

Identification of a point mutation in the thyrotropin receptor of the hyt/hyt hypothyroid mouse

1994 • 132 citations

Congenital hypothyroidism, spiky hair, and cleft palate.

1989 • 129 citations

Intellectual development in children with congenital hypothyroidism in relation to recommended thyroxine treatment

1991 • 127 citations

Mutations of the Human Thyrotropin Receptor Gene Causing Thyroid Hypoplasia and Persistent Congenital Hypothyroidism

1997 • 125 citations

Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.

1998 • 123 citations

Cell-type-specific expression of the rat thyroperoxidase promoter indicates common mechanisms for thyroid-specific gene expression.

1992 • 122 citations

Two Novel Mutations in the Thyrotropin (TSH) Receptor Gene in a Child with Resistance to TSH¹

1997 • 121 citations

Characterization of a Novel Loss of Function Mutation of PAX8 in a Familial Case of Congenital Hypothyroidism with In-Place, Normal-Sized Thyroid

2004 • 118 citations

An endoplasmic reticulum storage disease causing congenital goiter with hypothyroidism.

1996 • 116 citations

A single amino acid change in the acetylcholinesterase-like domain of thyroglobulin causes congenital goiter with hypothyroidism in the cog/cog mouse: A model of human endoplasmic reticulum storage diseases

1998 • 115 citations

Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1

2004 • 111 citations

Redundant Domains Contribute to the Transcriptional Activity of the Thyroid Transcription Factor 1

1995 • 111 citations

Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis

1995 • 109 citations

Pendrin, the Protein Encoded by the Pendred Syndrome Gene (PDS), Is an Apical Porter of Iodide in the Thyroid and Is Regulated by Thyroglobulin in FRTL-5 Cells

2000 • 103 citations

Autosomal Dominant Transmission of Congenital Thyroid Hypoplasia Due to Loss-of-Function Mutation of PAX8

2001 • 103 citations

Expression of Reduced Nicotinamide Adenine Dinucleotide Phosphate Oxidase (ThoX, LNOX, Duox) Genes and Proteins in Human Thyroid Tissues¹

2001 • 100 citations

Distribution of the titf2/foxe1 gene product is consistent with an important role in the development of foregut endoderm, palate, and hair

2002 • 100 citations

Congenital hypothyroidism detected by neonatal screening: relationship between biochemical severity and early clinical features.

1992 • 99 citations

Population study of congenital hypothyroidism and associated birth defects, Atlanta, 1979-1992

1997 • 97 citations

Survey of neonatal screening for primary hypothyroidism in England, Wales, and Northern Ireland 1982-4

1988 • 91 citations

Two Novel Cysteine Substitutions (C1263R and C1995S) of Thyroglobulin Cause a Defect in Intracellular Transport of Thyroglobulin in Patients with Congenital Goiter and the Variant Type of Adenomatous Goiter1

1999 • 90 citations

The Hypothyroidism in an Inbred Kindred with Congenital Thyroid Hormone and Glucocorticoid Deficiency is Due to a Mutation Producing a Truncated Thyrotropin Receptor

1999 • 86 citations

Congenital Hypothyroidism with Impaired Thyroid Response to Thyrotropin (TSH) and Absent Circulating Thyroglobulin: Evidence for a New Inactivating Mutation of the TSH Receptor Gene*

2000 • 85 citations

Outcome of severe congenital hypothyroidism: closing the developmental gap with early high dose levothyroxine treatment

1996 • 85 citations

Two Novel Mutations in the Thyrotropin (TSH) Receptor Gene in a Child with Resistance to TSH

1997 • 84 citations

A Premature Stopcodon in Thyroglobulin Messenger RNA Results in Familial Goiter and Moderate Hypothyroidism

1999 • 84 citations

Expression of Reduced Nicotinamide Adenine Dinucleotide Phosphate Oxidase (ThoX, LNOX, Duox) Genes and Proteins in Human Thyroid Tissues

2001 • 82 citations

Apparent Congenital Athyreosis Contrasting with Normal Plasma Thyroglobulin Levels and Associated with Inactivating Mutations in the Thyrotropin Receptor Gene: Are Athyreosis and Ectopic Thyroid Distinct Entities?

1998 • 80 citations

Congenital Goiter with Defective Iodide Transport

1983 • 78 citations

Structural and functional characterization of the two human ThOX/Duox genes and their 5′-flanking regions

2004 • 75 citations

Pendred syndrome: Phenotypic variability in two families carrying the samePDS missense mutation

2000 • 75 citations

Two Different Mutations in the Thyroid Peroxidase Gene of a Large Inbred Amish Kindred: Power and Limits of Homozygosity Mapping1

1999 • 75 citations

Intrauterine diagnosis and management of congenital goitrous hypothyroidism

2002 • 72 citations

Four families with loss of function mutations of the thyrotropin receptor

1996 • 71 citations

Distinct Functional Properties of Three Human Paired-Box-Protein, PAX8, Isoforms Generated by Alternative Splicing in Thyroid, Kidney and Wilms' Tumors

1995 • 70 citations

Nineteen Years of National Screening for Congenital Hypothyroidism: Familial Cases with Thyroid Dysgenesis Suggest the Involvement of Genetic Factors

2001 • 69 citations

The W546X Mutation of the Thyrotropin Receptor Gene: Potential Major Contributor to Thyroid Dysfunction in a Caucasian Population

2003 • 69 citations

Hypothyroidism in Infants and Children

1941 • 68 citations

Novel Inactivating Missense Mutations in the Thyrotropin Receptor Gene in Japanese Children with Resistance to Thyrotropin

2001 • 68 citations

Failure of Membrane Targeting Causes the Functional Defect of Two Mutant Sodium Iodide Symporters¹

2000 • 65 citations

Pendred syndrome.

1996 • 65 citations

A Novel Mutation in the Thyrotropin (TSH) Receptor Gene Causing Loss of TSH Binding But Constitutive Receptor Activation in a Family with Resistance to TSH¹

2000 • 64 citations

A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism.

1994 • 64 citations

Structure and Function of G Protein-Coupled Receptors

1994 • 63 citations

Metastatic Thyroid Carcinoma Arising from Congenital Goiter due to Mutation in the Thyroperoxidase Gene1

1998 • 62 citations

High Prevalence of T354P Sodium/Iodide Symporter Gene Mutation in Japanese Patients with Iodide Transport Defect Who Have Heterogeneous Clinical Pictures1

1998 • 60 citations

Expression, Exon-Intron Organization, and Chromosome Mapping of the Human Sodium Iodide Symporter

1997 • 59 citations

Deafness with Sporadic Goiter: Pendred's Syndrome

1962 • 58 citations

Structure and function of the homeodomain

1989 • 58 citations

Localization of human thyrotropin receptor gene to chromosome region 14q31 by in situ hybridization

1990 • 57 citations

PAX genes: what's new in developmental biology and cancer?

1995 • 57 citations

A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect

1999 • 55 citations

A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect

1999 • 54 citations

Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency

2002 • 53 citations

Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism

2001 • 52 citations

Congenital Hypothyroidism with Impaired Thyroid Response to Thyrotropin (TSH) and Absent Circulating Thyroglobulin: Evidence for a New Inactivating Mutation of the TSH Receptor Gene

2000 • 50 citations

Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene.

1996 • 50 citations

Thyroid transcription factor 1 and Pax8 synergistically activate the promoter of the human thyroglobulin gene

2001 • 49 citations

Two Decades of Screening for Congenital Hypothyroidism in the Netherlands: TPO Gene Mutations in Total Iodide Organification Defects (an Update)

2000 • 48 citations

Congenital hypothyroidism in Wales (1982-1993): demographic features, clinical presentation and effects on early neurodevelopment

1998 • 47 citations

Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor

2004 • 47 citations

Identification of Two Novel Deletion Mutations within the Gsα Gene (GNAS1) in Albright Hereditary Osteodystrophy1

1999 • 46 citations

PAX 8 Regulates Human WT1 Transcription through a Novel DNA Binding Site

1997 • 46 citations

Two Different Mutations in the Thyroid Peroxidase Gene of a Large Inbred Amish Kindred: Power and Limits of Homozygosity Mapping

1999 • 44 citations

A Familial Case of Congenital Hypothyroidism Caused by a Homozygous Mutation of the Thyrotropin Receptor Gene

2001 • 44 citations

Perturbed thyroid morphology and transient hypothyroidism symptoms in Hoxa5 mutant mice

2003 • 44 citations

Inherited Disorders of the Thyroid System

2019 • 44 citations

A Novel Mutation in the Thyrotropin (TSH) Receptor Gene Causing Loss of TSH Binding But Constitutive Receptor Activation in a Family with Resistance to TSH

2000 • 43 citations

Two Novel Cysteine Substitutions (C1263R and C1995S) of Thyroglobulin Cause a Defect in Intracellular Transport of Thyroglobulin in Patients with Congenital Goiter and the Variant Type of Adenomatous Goiter

1999 • 43 citations

Thyroid Resistance to TSH Complicated by Autoimmune Thyroiditis

2001 • 43 citations

Localization of the thyroglobulin gene by in situ hybridization to human chromosomes

1985 • 42 citations

Regional localization of the gene for thyroid peroxidase to human chromosome 2p25 and mouse chromosome 12C

1995 • 42 citations

Failure of Membrane Targeting Causes the Functional Defect of Two Mutant Sodium Iodide Symporters

2000 • 42 citations

Germline Mutations of TSH Receptor Gene as Cause of Nonautoimmune Subclinical Hypothyroidism

2002 • 39 citations

Polymorphism of the polyalanine tract of thyroid transcription factor-2 gene in patients with thyroid dysgenesis

2001 • 37 citations

Metastatic Thyroid Carcinoma Arising from Congenital Goiter due to Mutation in the Thyroperoxidase Gene

1998 • 37 citations

Thyrotropin Receptor Autoantibodies (TSHRAbs): Epitopes, Origins and Clinical Significance

2003 • 37 citations

Genetic Linkage Studies of Thyroid Peroxidase (TPO) Gene in Families with TPO Deficiency*

1991 • 36 citations

INACTIVATING MUTATIONS IN THE GENE FOR THYROID OXIDASE 2 ( THOX2 ) AND CONGENITAL HYPOTHYROIDISM

2002 • 35 citations

A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism

1994 • 33 citations

Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene

1996 • 31 citations

Thyroid C Cells in the Digeorge Anomaly: A Quantitative Study

1993 • 31 citations

High Prevalence of T354P Sodium/Iodide Symporter Gene Mutation in Japanese Patients with Iodide Transport Defect Who Have Heterogeneous Clinical Pictures

1998 • 31 citations

Production and Application of Polyclonal Antibody to Human Thyroid Transcription Factor 2 Reveals Thyroid Transcription Factor 2 Protein Expression in Adult Thyroid and Hair Follicles and Prepubertal Testis

2003 • 26 citations

Iodide organification defects resulting from cosegregation of mutated and null thyroid peroxidase alleles

2001 • 26 citations

Evidence for the Segregation of Three Different Mutated Alleles of the Thyroglobulin Gene in a Brazilian Family with Congenital Goiter and Hypothyroidism

1998 • 26 citations

A Premature Stopcodon in Thyroglobulin Messenger RNA Results in Familial Goiter and Moderate Hypothyroidism

1999 • 25 citations

Potent thyrotrophin receptor-blocking antibodies: a cause of transient congenital hypothyroidism and delayed thyroid development

2004 • 20 citations

Thyroid Resistance to TSH Complicated by Autoimmune Thyroiditis

2001 • 14 citations

Congenital hypothyroidism caused by a mutation in the Na+/I- symporter

2002 • 13 citations

Activating and inactivating mutations in the human GNAS1 gene

2000 • 12 citations

Pendred syndrome: Phenotypic variability in two families carrying the same PDS missense mutation

2000 • 10 citations

Untitled

2001 • 7 citations

Structure, function, and relevance of thyroid peroxidase in inherited diseases of the thyroid

1997 • 5 citations

Inherited Disorders of the Thyroid System

1995 • 4 citations

Diagnosis and Treatment of Thyroid Disease During Pregnancy

2010 • 4 citations