Literature DB >> 11704986

Pendred's syndrome and genetic defects in thyroid hormone synthesis.

P Kopp1.   

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Year:  2000        PMID： 11704986     DOI： 10.1023/a:1010024722595

Source DB:  PubMed          Journal:  Rev Endocr Metab Disord        ISSN： 1389-9155            Impact factor:   6.514


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  3 in total

1.  Pendred syndrome--100 years of underascertainment?

Authors:  W Reardon; R Coffey; P D Phelps; L M Luxon; D Stephens; P Kendall-Taylor; K E Britton; A Grossman; R Trembath
Journal:  QJM       Date:  1997-07

2.  Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome.

Authors:  W R Cremers; C Bolder; R J Admiraal; L A Everett; F B Joosten; P van Hauwe; E D Green; B J Otten
Journal:  Arch Otolaryngol Head Neck Surg       Date:  1998-05

3.  Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome.

Authors:  E Gausden; J A Armour; B Coyle; R Coffey; Z Hochberg; M Pembrey; K E Britton; A Grossman; W Reardon; R Trembath
Journal:  Clin Endocrinol (Oxf)       Date:  1996-04       Impact factor: 3.478
  3 in total
  9 in total

1.  Clinical, biochemical, and molecular findings in Argentinean patients with goitrous congenital hypothyroidism.

Authors:  Ana Chiesa; Carina M Rivolta; Héctor M Targovnik; Laura Gruñeiro-Papendieck
Journal:  Endocrine       Date:  2010-10-23       Impact factor: 3.633

Review 2.  Transcriptional regulation of the pendrin gene.

Authors:  Julia Rozenfeld; Edna Efrati; Lior Adler; Osnat Tal; Stephen L Carrithers; Seth L Alper; Israel Zelikovic
Journal:  Cell Physiol Biochem       Date:  2011-11-16

3.  TRANSCRIPTION FACTOR GLI-SIMILAR 3 (GLIS3): IMPLICATIONS FOR THE DEVELOPMENT OF CONGENITAL HYPOTHYROIDISM.

Authors:  Kristin Lichti-Kaiser; Gary ZeRuth; Anton M Jetten
Journal:  J Endocrinol Diabetes Obes       Date:  2014-04

4.  Demographic Features and Etiology of Congenital Hypothyroidism at the National Diabetes and Endocrine Center in Oman from 2004 to 2016.

Authors:  Mohammed Al Jafari; Sachin Jose; Aisha Al Senani
Journal:  Oman Med J       Date:  2020-09-30

Review 5.  Congenital hypothyroidism.

Authors:  Maynika V Rastogi; Stephen H LaFranchi
Journal:  Orphanet J Rare Dis       Date:  2010-06-10       Impact factor: 4.123

6.  Congenital goitrous hypothyroidism, deafness and iodide organification defect in four siblings: Pendred or pseudo-Pendred syndrome?

Authors:  Cengiz Kara; Mehtap Kılıç; Ahmet Uçaktürk; Murat Aydın
Journal:  J Clin Res Pediatr Endocrinol       Date:  2010-05-06

7.  Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.

Authors:  Yock-Ping Chow; Nor Azian Abdul Murad; Zamzureena Mohd Rani; Jia-Shiun Khoo; Pei-Sin Chong; Loo-Ling Wu; Rahman Jamal
Journal:  Orphanet J Rare Dis       Date:  2017-02-21       Impact factor: 4.123

Review 8.  Chloride Homeostasis in Neurons With Special Emphasis on the Olivocerebellar System: Differential Roles for Transporters and Channels.

Authors:  Negah Rahmati; Freek E Hoebeek; Saša Peter; Chris I De Zeeuw
Journal:  Front Cell Neurosci       Date:  2018-05-01       Impact factor: 5.505

9.  The incidence of congenital hypothyroidism and its determinants from 2012 to 2014 in Shadegan, Iran: a case-control study.

Authors:  Ehsan Keshavarzian; Ali Asghar Valipoor; Mohammad Reza Maracy
Journal:  Epidemiol Health       Date:  2016-05-26
  9 in total

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