Pendred's syndrome

Known as: Thyroid Hormonogenesis, Genetic Defect In, 2B, pendreds syndrome, Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2B 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1971-2018
05101519712018

Papers overview

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Highly Cited
2007
Highly Cited
2007
Although recessive mutations in the anion transporter gene SLC26A4 are known to be responsible for Pendred syndrome (PS) and… (More)
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Highly Cited
2001
Highly Cited
2001
Following the positional cloning of PDS, the gene mutated in the deafness/goitre disorder Pendred syndrome (PS), numerous studies… (More)
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Highly Cited
2001
Highly Cited
2001
Mutations in PDS (SLC26A4) cause both Pendred syndrome and DFNB4, two autosomal recessive disorders that share hearing loss as a… (More)
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Highly Cited
2000
Highly Cited
2000
Pendred syndrome is an autosomal recessive disorder characterized by congenital deafness and thyroid goiter. The thyroid disease… (More)
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Highly Cited
1999
Highly Cited
1999
Pendred syndrome is the most common form of syndromic deafness and characterized by congenital sensorineural hearing loss and… (More)
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Highly Cited
1998
Highly Cited
1998
Pendred syndrome is an autosomal recessive disorder characterized by early childhood deafness and goiter. A century after its… (More)
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Highly Cited
1998
Highly Cited
1998
Pendred syndrome is an autosomal recessive disorder characterized by the association between sensorineural hearing loss and… (More)
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Highly Cited
1997
Highly Cited
1997
Pendred syndrome is a recessively inherited disorder with the hallmark features of congenital deafness and thyroid goitre. By… (More)
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Highly Cited
1996
Highly Cited
1996
Inherited causes account for about 50% of Individuals presenting with childhood (prelingual) hearing loss, of which 70% are due… (More)
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Highly Cited
1996
Highly Cited
1996
Exactly 100 years ago, in 1896, Pendred first described the association of congenital deafness with thyroid goitre (MIM#274600)1… (More)
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