Literature DB >> 14304636

ASSOCIATION OF CONGENITAL DEAFNESS WITH GOITRE (PENDRED'S SYNDROME) A STUDY OF 207 FAMILIES.

G R FRASER.   

Abstract

Entities:  

Keywords:  DEAFNESS; DIAGNOSIS; GENETICS, HUMAN; GOITER; GREAT BRITAIN; INFANT, NEWBORN; MARRIAGE; SEX; STATISTICS; THYROIDECTOMY

Mesh：

Year:  1965        PMID： 14304636     DOI： 10.1111/j.1469-1809.1964.tb00479.x

Source DB:  PubMed          Journal:  Ann Hum Genet        ISSN： 0003-4800            Impact factor:   1.670


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  47 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.  CONGENITAL DEAFNESS AND SPORADIC GOITRE.

Authors:  D L WOOLF
Journal:  Br Med J       Date:  1965-06-12

3.  Thyroid function in patients with Pendred's syndrome.

Authors:  J Friis; T Johnsen; U Feldt-Rasmussen; K Bech; T Friis
Journal:  J Endocrinol Invest       Date:  1988-02       Impact factor: 4.256

4.  Medical Referral Patterns and Etiologies for Children With Mild-to-Severe Hearing Loss.

Authors:  Paul D Judge; Erik Jorgensen; Monica Lopez-Vazquez; Patricia Roush; Thomas A Page; Mary Pat Moeller; J Bruce Tomblin; Lenore Holte; Craig Buchman
Journal:  Ear Hear       Date:  2019 Jul/Aug       Impact factor: 3.570

Review 5.  Pendred syndrome.

Authors:  W Reardon; R C Trembath
Journal:  J Med Genet       Date:  1996-12       Impact factor: 6.318

6.  Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage.

Authors:  E Gausden; B Coyle; J A Armour; R Coffey; A Grossman; G R Fraser; R M Winter; M E Pembrey; P Kendall-Taylor; D Stephens; L M Luxon; P D Phelps; W Reardon; R Trembath
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

7.  Atrophic thyroid follicles and inner ear defects reminiscent of cochlear hypothyroidism in Slc26a4-related deafness.

Authors:  Amiel A Dror; Danielle R Lenz; Shaked Shivatzki; Keren Cohen; Osnat Ashur-Fabian; Karen B Avraham
Journal:  Mamm Genome       Date:  2014-04-24       Impact factor: 2.957

8.  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

9.  Lactaturia and loss of sodium-dependent lactate uptake in the colon of SLC5A8-deficient mice.

Authors:  Henning Frank; Nicole Gröger; Martin Diener; Christoph Becker; Thomas Braun; Thomas Boettger
Journal:  J Biol Chem       Date:  2008-06-17       Impact factor: 5.157

10.  Free radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model.

Authors:  Ruchira Singh; Philine Wangemann
Journal:  Am J Physiol Renal Physiol       Date:  2007-10-24
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