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Pendred's syndrome
Known as:
THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B
, pendreds syndrome
, Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2B
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National Institutes of Health
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Related topics
Related topics
18 relations
Autosomal recessive inheritance
Compensated hypothyroidism
Congenital Hypothyroidism
Congenital sensorineural hearing loss
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Broader (2)
Nodular Goiter
Sensorineural Hearing Loss (disorder)
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Receptive language acquisition in a pediatric population with Pendred syndrome and non-syndromic enlarged vestibular aqueduct
K. Mey
,
L. Percy-Smith
,
Maria Hallstrøm
,
M. Sandvej
,
P. Cayé-Thomasen
Acta Oto-Laryngologica
2019
Corpus ID: 208274947
Abstract Background: Children with Pendred syndrome (PS) and non-syndromic enlarged vestibular aqueduct (NSEVA) represent a group…
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2013
2013
Papillary thyroid carcinoma in one of identical twin patients with Pendred syndrome.
Kanako Sakurai
,
M. Hata
,
+6 authors
Kazuhiro Takahashi
Endocrine journal
2013
Corpus ID: 3075458
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural deafness, a partial defect in iodide…
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2012
2012
Roles of 17‐AAG‐induced molecular chaperones and Rma1 E3 ubiquitin ligase in folding and degradation of Pendrin
Kanghyun Lee
,
Tae-Joon Hong
,
J. Hahn
FEBS Letters
2012
Corpus ID: 26126677
2007
2007
SLC26A4 mutations are associated with a specific inner ear malformation.
S. Fitoz
,
L. Sennaroğlu
,
A. İncesulu
,
F. Cengiz
,
Yasemin Koç
,
M. Tekin
International Journal of Pediatric…
2007
Corpus ID: 22986374
2007
2007
Two common and three novel PDS mutations in Thai patients with Pendred syndrome
T. Snabboon
,
Wanee Plengpanich
,
+7 authors
V. Shotelersuk
Journal of Endocrinological Investigation
2007
Corpus ID: 38575207
Pendred syndrome is an autosomal recessive disorder characterized by congenital sensorineural deafness, goiter, and impaired…
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2006
2006
The H723R mutation in the PDS/SLC26A4 gene is associated with typical pendred syndrome in korean patients
M. Cho
,
S. Jeong
,
+12 authors
Sungkil Lim
Endocrine
2006
Corpus ID: 21832909
Inherited as an autosomal recessive trait, Pendred syndrome is a disease that shows congenital sensorineural hearing loss and…
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Highly Cited
2004
Highly Cited
2004
Pendred syndrome and DFNB4‐mutation screening of SLC26A4 by denaturing high‐performance liquid chromatography and the identification of eleven novel mutations
S. Prasad
,
Karen A. Kölln
,
Robert A. Cucci
,
R. Trembath
,
G. Camp
,
Richard J. H. Smith
American Journal of Medical Genetics. Part A
2004
Corpus ID: 39935558
Mutations in SLC26A4 cause Pendred syndrome, an autosomal‐recessive disorder characterized by sensorineural deafness and goiter…
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2003
2003
Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene
G. Massa
,
N. Jaenen
,
S. Janssens de Varebeke
,
N. Peeters
,
W. Wuyts
European Journal of Pediatrics
2003
Corpus ID: 8075033
Thyroid nodules are a rare occurrence in children but represent an important clinical problem because of the possibility of…
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1999
1999
Sulfate transport is not impaired in pendred syndrome thyrocytes.
Zaki M. Kraiem
,
R. Heinrich
,
+4 authors
Benjamin Glaser
Journal of Clinical Endocrinology and Metabolism
1999
Corpus ID: 32013031
Pendred syndrome is the most common form of syndromic deafness, characterized by dyshormonogenic goiter associated with sensory…
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1998
1998
Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness
M. Mustapha
,
N. Salem
,
D. Weil
,
Elie El-Zir
,
J. Loiselet
,
C. Petit
European Journal of Human Genetics
1998
Corpus ID: 31534653
In our efforts to identify new loci responsible for non-syndromic autosomal recessive forms of deafness, DFNB loci, we have…
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