Literature DB >> 1522843

Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia.

R W Bilous1, G Murty, D B Parkinson, R V Thakker, M G Coulthard, J Burn, D Mathias, P Kendall-Taylor.   

Abstract

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Year:  1992        PMID： 1522843     DOI： 10.1056/NEJM199210083271506

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  35 in total

Review 1.  Genetics of endocrine and metabolic disorders: parathyroid.

Authors:  R V Thakker
Journal:  Rev Endocr Metab Disord       Date:  2004-03       Impact factor: 6.514

Review 2.  An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.

Authors:  P Lichtner; R König; T Hasegawa; H Van Esch; T Meitinger; S Schuffenhauer
Journal:  J Med Genet       Date:  2000-01       Impact factor: 6.318

Review 3.  Hypoparathyroidism.

Authors:  John P Bilezikian
Journal:  J Clin Endocrinol Metab       Date:  2020-06-01       Impact factor: 5.958

Review 4.  Genetic Disorders of Parathyroid Development and Function.

Authors:  Rebecca J Gordon; Michael A Levine
Journal:  Endocrinol Metab Clin North Am       Date:  2018-10-12       Impact factor: 4.741

5.  A novel heterozygous deletion frameshift mutation of GATA3 in a Japanese kindred with the hypoparathyroidism, deafness and renal dysplasia syndrome.

Authors:  H Kobayashi; M Kasahara; M Hino; H Yoshimura; S Takahara; K Ikeda; C Son; T Iwakura; A Yoshimoto; T Ishihara; Y Ogawa
Journal:  J Endocrinol Invest       Date:  2006-10       Impact factor: 4.256

6.  Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research.

Authors:  John P Bilezikian; Aliya Khan; John T Potts; Maria Luisa Brandi; Bart L Clarke; Dolores Shoback; Harald Jüppner; Pierre D'Amour; John Fox; Lars Rejnmark; Leif Mosekilde; Mishaela R Rubin; David Dempster; Rachel Gafni; Michael T Collins; Jim Sliney; James Sanders
Journal:  J Bone Miner Res       Date:  2011-10       Impact factor: 6.741

7.  Vitamin D deficiency in a patient with HDR syndrome.

Authors:  Ifigenia Kostoglou-Athanassiou; Dimitrios Stefanopoulos; Areti Karfi; Panagiotis Athanassiou
Journal:  BMJ Case Rep       Date:  2015-07-08

Review 8.  Genetics of vesicoureteral reflux.

Authors:  Prem Puri; Jan-Hendrik Gosemann; John Darlow; David E Barton
Journal:  Nat Rev Urol       Date:  2011-08-23       Impact factor: 14.432

9.  GATA3 mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome.

Authors:  Zi-Yang Zhu; Qiao-Li Zhou; Shi-Ning Ni; Wei Gu
Journal:  World J Pediatr       Date:  2014-08-15       Impact factor: 2.764

10.  Mitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease.

Authors:  R Hameed; F Raafat; P Ramani; G Gray; H P Roper; D V Milford
Journal:  Postgrad Med J       Date:  2001-08       Impact factor: 2.401
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