The syndrome of sporadic goitre and congenital deafness.

No abstract is available for this paper.

• Publication year

  1960

• Venue

  The Quarterly journal of medicine

• Publication date

  1960-04-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1093/OXFORDJOURNALS.QJMED.A066876PMID 13824627
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• A new genetically determined plasma-protein in man.

  1959cited by this paper
• A quantitative method for the separation of thyroid hormones and related compounds from serum and tissues with an anion-exchange resin.

  1959cited by this paper
• Investigations of thyroid antigens reacting with Hashimoto sera; evidence for an antigen other than thyroglobulin.

  1959cited by this paper
• The estimation of iodine in biological materials; a modification of the method of Ellis & Duncan.

  1958cited by this paper
• Association of congenital deafness with goitre; the nature of the thyroid defect.

  1958cited by this paper
• Human autoimmune thyroiditis: serological studies.

  1958cited by this paper
• Familial association of nerve deafness with nodular goiter and thyroid carcinoma.

  1958cited by this paper
• Nature of radioiodine not dischargeable with perchlorate in the thyroid glands of thiouracil-treated rats.

  1958cited by this paper
• A Report of the Occurrence of Deaf‐mutism and Goiter in Four of Six Siblings of a North American Family

  1957cited by this paper
• The exchangeable character of accumulated I131 in the thyroid gland of a goitrous cretin.

  1957cited by this paper
• Defective organic binding of iodine by the thyroid in Hashimoto's thyroiditis.

  1957cited by this paper
• HEREDITARY DEAF MUTISM, WITH PARTICULAR REFERENCE TO NORTHERN IRELAND

  1956cited by this paper
• Congenital deafness and goiter.

  1956cited by this paper
• The anti-thyroid effect of phenylbutazone.

  1955cited by this paper
• The metabolism of iodine in 2 goitrous cretins compared with that in 2 patients receiving methimazole.

  1955cited by this paper
• Non-endemic Goitrous Cretinism

  1954cited by this paper
• The mechanism of the goitrogenic action of p-aminosalicylic acid.

  1954cited by this paper
• Effect of perchlorate on the human thyroid gland.

  1952cited by this paper
• A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness.

  1951cited by this paper
• Cretinism with goiter; a case report.

  1951cited by this paper
• A study of a family of goitrous cretins.

  1950cited by this paper

• Charakterystyka niedosłuchu u dzieci z zespołem Pendreda oraz wyniki jego leczenia za pomocą implantów ślimakowych – przegląd piśmiennictwa

  2019cites this paper
• Whole exome sequencing to investigate genetic variants of non-syndromic hearing impairment in a population of African ancestry

  2018cites this paper
• The Slc26a4 loop Mouse Model for Pendred’s Syndrome and Nonsyndromic Deafness

  2017cites this paper
• Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family

  2017cites this paper
• Mouse Models Reveal the Role of Pendrin in the Inner Ear

  2017cites this paper
• The Role of Genetics in the Development of Familial Nonmedullary Thyroid Cancer

  2016cites this paper
• Further characterisation of the recently described SLC26A4 c.918+2T>C mutation and reporting of a novel variant predicted to be damaging

  2016cites this paper
• Deafness with Sporadic Goiter

  2016cites this paper
• Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.

  2015cites this paper
• The Effect on Sodium/Iodide Symporter and Pendrin in Thyroid Colloid Retention Developed by Excess Iodide Intake

  2015cites this paper
• Clinical and molecular characteristics of Pendred syndrome.

  2011cites this paper
• SLC26A4 Genotypes and Phenotypes Associated with Enlargement of the Vestibular Aqueduct

  2011cites this paper
• Controversies Concerning the Role of Pendrin as an Apical Iodide Transporter in Thyroid Follicular Cells

  2011cites this paper
• Enlarged vestibular aqueduct: Review of controversial aspects

  2011cites this paper
• Association of the long QT syndrome With goiter and deafness.

  2010cites this paper
• Genetics and phenomics of Pendred syndrome.

  2010cites this paper
• Thyroid Hormone Synthesis

  2009cites this paper
• Minireview: The sodium-iodide symporter NIS and pendrin in iodide homeostasis of the thyroid.

  2009cites this paper
• Pendred’s Syndrome: Deficiency in Iodide Transport

  2009cites this paper
• Pendred's syndrome

  2009cites this paper
• Pendred syndrome and iodide transport in the thyroid.

  2008cites this paper
• Congenital Hypothyroidism * Aetiological and Clinical Aspects

  2006cites this paper
• Diagnostik und Therapie von Schilddrüsenerkrankungen in Beziehung zur Oto-Rhino-Laryngologie

  2006cites this paper
• Congenital Hypothyroidism* Aetiological and Clinical Aspects hypothyroidism: aetiological and clinical aspects.

  2006cites this paper
• Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population

  2006cites this paper
• SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities

  2005cites this paper
• What is the Role of Pendrin?

  2005cites this paper
• Hypothyroidism

  2005cites this paper
• Pendred syndrome: study of three families.

  2005cites this paper
• Pendred's Syndrome and Genetic Defects in Thyroid Hormone Synthesis

  2004cites this paper
• Pendred syndrome and DFNB4‐mutation screening of SLC26A4 by denaturing high‐performance liquid chromatography and the identification of eleven novel mutations

  2004cites this paper
• Pendred Syndrome

  2003cites this paper
• Localization and Functional Studies of Pendrin in the Mouse Inner Ear Provide Insight About the Etiology of Deafness in Pendred Syndrome

  2003cites this paper
• Neuro-otological findings in Pendred syndrome: Hallazgos neuro-otológicos en el Sindrome de Pendred

  2003cites this paper
• Autosomal and X-Linked Auditory Disorders

  2002cites this paper
• A Case of Pendred's Syndrome

  2002cites this paper
• Enlarged vestibular aqueduct in two male siblings.

  2002cites this paper
• Differential Diagnosis between Pendred and Pseudo-Pendred Syndromes: Clinical, Radiologic, and Molecular Studies

  2002cites this paper
• Enlarged vestibular aqueduct in two male siblings

  2002cites this paper
• Genetics of Auditory Disorders

  2002cites this paper
• Molecular Genetics of Thyroid Disorders in the Neonate: A Review

  2001cites this paper
• Clinical and molecular analysis of three Mexican families with Pendred's syndrome.

  2001cites this paper
• Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene.

  2000cites this paper
• Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome.

  2000cites this paper
• Cracking the auditory genetic code: part II. Syndromic hereditary hearing impairment.

  2000cites this paper
• Pendred's Syndrome: Identification of the Genetic Defect a Century After Its Recognition

  1999influential citation
• Pendred syndrome: clinical characteristics and molecular basis

  1999cites this paper
• Histopathological findings suggest the diagnosis in an atypical case of Pendred syndrome.

  1999cites this paper
• Surprising news: a putative sulfate transporter is defective in Pendred's syndrome.

  1998cites this paper
• Perchlorate and the thyroid gland.

  1998cites this paper
• Radiological malformations of the ear in Pendred syndrome.

  1998cites this paper
• Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome.

  1998cites this paper
• Two frequent missense mutations in Pendred syndrome.

  1998cites this paper
• Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage.

  1997cites this paper
• Pendred syndrome--100 years of underascertainment?

  1997cites this paper
• A case of Pendred's syndrome presenting with amenorrhea.

  1996cites this paper
• Genetic analysis of thyroid hormone receptors in development and disease.

  1996cites this paper
• Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4

  1996cites this paper
• Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome

  1996cites this paper
• A histologic study of nonmorphogenetic forms of hereditary hearing impairment.

  1992cites this paper
• A catalogue of multiple congenital anomaly syndromes

  1991cites this paper
• Goitre and deaf-mutism.

  1991cites this paper
• Causes of early childhood deafness

  1989cites this paper
• Quantitative Analysis of Cerebello‐Vestibular Function in Congenital Hypothyroidism

  1987cites this paper
• The perchlorate discharge test with and without supplement of potassium iodide

  1987cites this paper
• Familial idiopathic hypoparathyroidism and progressive sensorineural deafness.

  1986cites this paper
• Pendred's Syndrome (II)

  1983cites this paper
• Effect of neonatal and adult-onset hypothyroidism on pyramidal cells of the rat auditory cortex.

  1983cites this paper
• Inherited disorders of thyroid metabolism.

  1983cites this paper
• The syndrome of sporadic goitre and congenital deafness.

  1982cites this paper
• Reexpression of blood group ABH antigens on the surface of human thyroid cells in culture

  1982cites this paper
• Defects in intrathyroid binding of iodine and the perchlorate discharge test.

  1982cites this paper
• Pendred's syndrome - consequences of thyroidectomy.

  1981cites this paper
• Causes of non-toxic goitre other than mere iodine deficiency.

  1981cites this paper
• Abnormal perchlorate-induced radio-iodide loss from the thyroid gland in porphyrinopathies.

  1980cites this paper
• 10 Dyshormonogenetic goitre

  1979cites this paper
• Rare congenital syndrome associated with profound hearing loss.

  1979cites this paper
• Dyshormonogenetic goitre.

  1979cites this paper
• In vivo Thyroid Function Tests and Thyroid Imaging

  1978cites this paper
• Pendred's Syndrome. A Report of Two Cases (Sister and Brother)

  1978cites this paper
• Biochemical studies on the iodine organification defect of Pendred's syndrome.

  1978cites this paper
• Pendred’s syndrome

  1977cites this paper
• Diagnosis, prevention and treatment of hereditary sensorineural hearing loss

  1977cites this paper
• [Physiopathology of congenital errors of thyroid hormonogenesis].

  1976cites this paper
• ETIOLOGICAL CONSIDERATIONS ON THE SENSORINEURAL HEARING LOSS

  1976cites this paper
• An index of syndromes and their anaesthetic implications

  1976cites this paper
• Studies on hearing loss in a community with endemic cretinism in Central Java, Indonesia.

  1975cites this paper
• Goiter and Deaf Mutism

  1975cites this paper
• [The effect of a single dose of perchlorate on the 24-hour I 131 uptake].

  1975cites this paper
• The thyroid gland

  1974cites this paper
• Thyroidal iodopriteins in Pendred's syndrome.

  1974cites this paper
• [Action of the neomercazole and of the perchlorate ion on the normal human thyroid (author's transl)].

  1974cites this paper
• [Partially regressive, early major hypothyroidism in 2 cases of Pendred's syndrome].

  1973cites this paper
• An Experimental Approach to the Understanding and Treatment of Hereditary Syndromes with Congenital Deafness and Hypothyroidism

  1973cites this paper
• An evaluation of the 20 minute perchlorate discharge test.

  1973cites this paper
• Fifteen cases of Pendred's syndrome. Congenital deafness and sporadic goiter.

  1972cites this paper
• Goitre and deafness: Pendred's syndrome.

  1972cites this paper
• [Diagnosis and therapy of thyroid diseases in relation to otorhinolaryngology].

  1972cites this paper
• [Pendred's syndrome. Apropos of 2 familial cases].

  1972cites this paper
• Heredity of Autoimmune Thyroiditis

  1972cites this paper