Molecular Analysis of the Pendred’s Syndrome Gene and Magnetic Resonance Imaging Studies of the Inner Ear Are Essential for the Diagnosis of True Pendred’s Syndrome1-Reference-Cited by-同舟云学术

Molecular Analysis of the Pendred’s Syndrome Gene and Magnetic Resonance Imaging Studies of the Inner Ear Are Essential for the Diagnosis of True Pendred’s Syndrome1

Published:2000-07-01 Issue:7 Volume:85 Page:2469-2475
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Fugazzola Laura¹²,Mannavola Deborah¹²,Cerutti Nadia³,Maghnie Mohamed⁴,Pagella Fabio⁵,Bianchi Paolo²,Weber Giovanna⁶,Persani Luca¹⁷,Beck-Peccoz Paolo¹⁸

Affiliation:

1. Institute of Endocrine Sciences, University of Milan (L.F., D.M., L.P., P.B.P.), 20122 Milan

2. Istituto Clinico Humanitas (L.F., D.M., P.B.), 20122 Milan

3. Departments of Internal Medicine (N.C.), 27100 Pavia

4. Pediatric Sciences (M.M.), 27100 Pavia

5. Otorhinolaryngology (F.P.), Policlinico S. Matteo IRCCS, University of Pavia, 27100 Pavia

6. Third Pediatric Clinic, HS Raffaele (G.W.), 20142 Milan, Italy

7. Istituto Auxologico Italiano IRCCS (L.P.), 20122 Milan

8. Ospedale Maggiore IRCCS (P.B.P.), 20122 Milan

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/85/7/2469/9177625/jcem2469.pdf

Reference42 articles.

1. Deaf-mutism and goiter.;Lancet,1896

2. Association of congenital deafness with goitre: the nature of the thyroid defect.;Morgans;Lancet,1958

3. Association of congenital deafness with goitre (Pendred’s syndrome).;Hum Genet,1965

4. Genetic hearing loss associated with endocrine and metabolic disorders. In: Gorlin RJ, ed;Gorlin,1995

5. The syndrome of sporadic goitre and congenital deafness.;Fraser;Q J Med,1960

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical use of thyroglobulin: not only thyroid cancer;Endocrine;2024-01-06

2. CHRONIC RENAL FAILURE IN PATIENT WITH PENDRED SYNDROME;ACTA MEDICA MEDITERR;2021

3. Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features;Frontiers in Genetics;2018-11-30

4. Loss of cochlear HCO3−secretion causes deafness via endolymphatic acidification and inhibition of Ca2+reabsorption in a Pendred syndrome mouse model;American Journal of Physiology-Renal Physiology;2007-05