Association of congenital deafness with goitre; the nature of the thyroid defect.
about
Collecting duct intercalated cell function and regulationSLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueductControversies concerning the role of pendrin as an apical iodide transporter in thyroid follicular cellsA novel mutation in the pendrin gene associated with Pendred's syndromePendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlationsTwo frequent missense mutations in Pendred syndromePendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organificationHuman pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchangePrevalence, age of onset, and natural history of thyroid disease in Pendred syndrome.Pendred syndromePROFOUND CHILDHOOD DEAFNESS.Otic lesions and congenital hypothyroidism in the developing chick.Pendred syndrome: evidence for genetic homogeneity and further refinement of linkageCongenital goitrous hypothyroidism, deafness and iodide organification defect in four siblings: Pendred or pseudo-Pendred syndrome?Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models.SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct.Myxoedema, goitre and nerve deafness in a child born in London.Familial nerve deafness and goitre.Minireview: The sodium-iodide symporter NIS and pendrin in iodide homeostasis of the thyroidMolecular and functional characterization of human pendrin and its allelic variants.Pendrin function in airway epithelia.Unresolved questions regarding human hereditary deafness.Pendred's syndrome - consequences of thyroidectomy.Defects of Thyroid Hormone Synthesis and Action.Thick airway surface liquid volume and weak mucin expression in pendrin-deficient human airway epithelia.Inborn errors of iodine metabolism.Pendred syndrome: study of three families.Sporadic goitre and cretinism due to the production of an abnormal thyroid proteinDifferential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.The perchlorate discharge test with and without supplement of potassium iodide.Pendred's syndrome with goiter and enlarged vestibular aqueducts diagnosed by PDS gene mutation.Comparison of MRI findings with traditional criteria in diagnosis of Pendred syndrome.Pituitary-thyroid function in Pendred's syndrome.Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.The ESF meeting on "The proteomics, epigenetics and pharmacogenetics of pendrin".Two siblings with progressive, fluctuating hearing loss after head trauma, treated with cochlear implantation.Neuro-otological findings in Pendred syndrome.Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome.Goitre and deaf-mutism.The variable intrafamiliar expressivity in Pendred's syndrome.
P2860
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P2860
Association of congenital deafness with goitre; the nature of the thyroid defect.
description
1958 nî lūn-bûn
@nan
1958年の論文
@ja
1958年学术文章
@wuu
1958年学术文章
@zh
1958年学术文章
@zh-cn
1958年学术文章
@zh-hans
1958年学术文章
@zh-my
1958年学术文章
@zh-sg
1958年學術文章
@yue
1958年學術文章
@zh-hant
name
Association of congenital deafness with goitre; the nature of the thyroid defect.
@en
Association of congenital deafness with goitre; the nature of the thyroid defect.
@nl
type
label
Association of congenital deafness with goitre; the nature of the thyroid defect.
@en
Association of congenital deafness with goitre; the nature of the thyroid defect.
@nl
prefLabel
Association of congenital deafness with goitre; the nature of the thyroid defect.
@en
Association of congenital deafness with goitre; the nature of the thyroid defect.
@nl
P1433
P1476
Association of congenital deafness with goitre; the nature of the thyroid defect.
@en
P2093
M E MORGANS
W R TROTTER
P304
P356
10.1016/S0140-6736(58)90866-3
P407
P577
1958-03-01T00:00:00Z