Literature DB >> 13966825

Deafness with sporadic goiter. Pendred's syndrome.

J G BATSAKIS, R H NISHIYAMA.   

Abstract

Entities:  

Keywords:  DEAFNESS; GOITER

Mesh：

Year:  1962        PMID： 13966825     DOI： 10.1001/archotol.1962.00740050413004

Source DB:  PubMed          Journal:  Arch Otolaryngol        ISSN： 0003-9977


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  9 in total

1.  Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).

Authors:  Tao Yang; Hilmar Vidarsson; Sandra Rodrigo-Blomqvist; Sally S Rosengren; Sven Enerback; Richard J H Smith
Journal:  Am J Hum Genet       Date:  2007-04-23       Impact factor: 11.025

2.  An experimental approach to the understanding and treatment of hereditary syndromes with congenital deafness and hypothyroidism.

Authors:  M S Deol
Journal:  J Med Genet       Date:  1973-09       Impact factor: 6.318

Review 3.  Inherited diseases of the inner ear in man in the light of studies on the mouse.

Authors:  M S Deol
Journal:  J Med Genet       Date:  1968-06       Impact factor: 6.318

4.  Conductive hearing loss and malformed low-set ears, as a possible recessive syndrome.

Authors:  M C Mengel; B W Konigsmark; C I Berlin; V A McKusick
Journal:  J Med Genet       Date:  1969-03       Impact factor: 6.318

Review 5.  Genetics of congenital hypothyroidism.

Authors:  S M Park; V K K Chatterjee
Journal:  J Med Genet       Date:  2005-05       Impact factor: 6.318

6.  Outcomes of Cochlear Implantation in Patients with Pendred syndrome: A Systematic Review and Narrative Synthesis.

Authors:  Kirsty Biggs; Amy Lovett; Chris Metcalfe; Jameel Muzaffar; Peter Monksfield; Manohar Bance
Journal:  J Int Adv Otol       Date:  2020-12       Impact factor: 1.017

7.  Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations.

Authors:  Karolina Banghova; Eva Al Taji; Ondrej Cinek; Dana Novotna; Radka Pourova; Jirina Zapletalova; Olga Hnikova; Jan Lebl
Journal:  Eur J Pediatr       Date:  2007-09-18       Impact factor: 3.183

Review 8.  Genetics of primary congenital hypothyroidism-a review.

Authors:  Eirini Kostopoulou; Konstantinos Miliordos; Bessie Spiliotis
Journal:  Hormones (Athens)       Date:  2021-01-05       Impact factor: 2.885

9.  Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center.

Authors:  Chen-Chi Wu; Chia-Cheng Hung; Shin-Yu Lin; Wu-Shiun Hsieh; Po-Nien Tsao; Chien-Nan Lee; Yi-Ning Su; Chuan-Jen Hsu
Journal:  PLoS One       Date:  2011-07-19       Impact factor: 3.240
  9 in total

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