Literature DB >> 9004139

Pendred syndrome.

W Reardon1, R C Trembath.   

Abstract

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Mesh：

Year:  1996        PMID： 9004139      PMCID： PMC1050818          DOI： 10.1136/jmg.33.12.1037

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  21 in total

1.  The association of deafness with thyroid dysfunction.

Authors:  W R TROTTER
Journal:  Br Med Bull       Date:  1960-05       Impact factor: 4.291

2.  Vestibular function in deafness and severe hardness of hearing.

Authors:  J ARNVIG
Journal:  Acta Otolaryngol       Date:  1955 Jul-Aug       Impact factor: 1.494

3.  Association of congenital deafness with goitre; the nature of the thyroid defect.

Authors:  M E MORGANS; W R TROTTER
Journal:  Lancet       Date:  1958-03-22       Impact factor: 79.321

4.  Pendred's syndrome. Acoustic, vestibular and radiological findings in 17 unrelated patients.

Authors:  T Johnsen; C Larsen; J Friis; F Hougaard-Jensen
Journal:  J Laryngol Otol       Date:  1987-11       Impact factor: 1.469

5.  Fifteen cases of Pendred's syndrome. Congenital deafness and sporadic goiter.

Authors:  P Illum; H W Kiaer; J Hvidberg-Hansen; G Sondergaard
Journal:  Arch Otolaryngol       Date:  1972-10

6.  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

7.  Pendred's syndrome with episodic vertigo, tinnitus and vomiting and normal bithermal caloric responses.

Authors:  V K Das
Journal:  J Laryngol Otol       Date:  1987-07       Impact factor: 1.469

8.  Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.

Authors:  M J Abramowicz; H M Targovnik; V Varela; P Cochaux; L Krawiec; M A Pisarev; F V Propato; G Juvenal; H A Chester; G Vassart
Journal:  J Clin Invest       Date:  1992-10       Impact factor: 14.808

9.  A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism.

Authors:  H Bikker; M T den Hartog; F Baas; M H Gons; T Vulsma; J J de Vijlder
Journal:  J Clin Endocrinol Metab       Date:  1994-07       Impact factor: 5.958

10.  Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation.

Authors:  K Takeda; S Balzano; A Sakurai; L J DeGroot; S Refetoff
Journal:  J Clin Invest       Date:  1991-02       Impact factor: 14.808
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  25 in total

1.  Unilateral corneal anaesthesia and ulceration following squint surgery in a child with Pendred syndrome and bilateral sixth nerve palsy.

Authors:  R V Wintle; Y F Choong; D E Laws
Journal:  Br J Ophthalmol       Date:  2003-09       Impact factor: 4.638

2.  Further refinement of Pendred syndrome locus by homozygosity analysis to a 0.8 cM interval flanked by D7S496 and D7S2425.

Authors:  M Mustapha; S T Azar; Y B Moglabey; M Saouda; G Zeitoun; J Loiselet; R Slim
Journal:  J Med Genet       Date:  1998-03       Impact factor: 6.318

Review 3.  Defects of Thyroid Hormone Synthesis and Action.

Authors:  Zeina C Hannoush; Roy E Weiss
Journal:  Endocrinol Metab Clin North Am       Date:  2017-03-06       Impact factor: 4.741

4.  Delayed diagnosis of Pendred syndrome.

Authors:  Natalie Smith; Jean-Marie U-King-Im; Janaka Karalliedde
Journal:  BMJ Case Rep       Date:  2016-09-12

Review 5.  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

Review 6.  Genetics of congenital hypothyroidism.

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

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

8.  Further indications for genetic heterogeneity of euthyroid familial goiter.

Authors:  Susanne Neumann; Yvonne Bayer; Andreas Reske; Mária Tajtáková; Pavel Langer; Ralf Paschke
Journal:  J Mol Med (Berl)       Date:  2003-10-15       Impact factor: 4.599

9.  Targeted Next-Generation Sequencing Analysis of a Pendred Syndrome-Associated Thyroid Carcinoma.

Authors:  Guo-Xia Tong; Qing Chang; Diane Hamele-Bena; John Carew; Richard S Hoffman; Marina N Nikiforova; Yuri E Nikiforov
Journal:  Endocr Pathol       Date:  2016-03       Impact factor: 3.943

10.  Lipomatous myelomeningocele, athyrotic hypothyroidism, and sensorineural deafness: a new form of syndromal deafness?

Authors:  H L Peters; A Bankier
Journal:  J Med Genet       Date:  1998-11       Impact factor: 6.318
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