Literature DB >> 13210749

A heredo-familial syndrome characterized by renal disease, inner ear deafness, and ocular changes.

E SOHAR.   

Abstract

Entities:  

Keywords:  EYE/diseases; HEARING DISORDERS/heredity; HEREDITY; KIDNEYS/diseases

Mesh：

Year:  1954        PMID： 13210749

Source DB:  PubMed          Journal:  Harefuah        ISSN： 0017-7768


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  8 in total

1.  CONGENITAL CATARACTS, RENAL TUBULAR NECROSIS AND ENCEPHALOPATHY IN TWO SISTERS.

Authors:  L CROME; S DUCKETT; A W FRANKLIN
Journal:  Arch Dis Child       Date:  1963-10       Impact factor: 3.791

2.  A genetic study of hereditary renal dysfunction with associated nerve deafness.

Authors:  M M COHEN; G CASSADY; B L HANNA
Journal:  Am J Hum Genet       Date:  1961-12       Impact factor: 11.025

Review 3.  Alport's syndrome.

Authors:  F Flinter
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

Review 4.  The application of molecular biology to the prenatal diagnosis of renal disease.

Authors:  F A Flinter; M Bobrow
Journal:  Pediatr Nephrol       Date:  1988-07       Impact factor: 3.714

5.  COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

Authors:  Helen Storey; Judy Savige; Vanessa Sivakumar; Stephen Abbs; Frances A Flinter
Journal:  J Am Soc Nephrol       Date:  2013-09-19       Impact factor: 10.121

6.  The value of clinical criteria in identifying patients with X-linked Alport syndrome.

Authors:  Helen Hanson; Helen Storey; Judith Pagan; Frances Flinter
Journal:  Clin J Am Soc Nephrol       Date:  2010-09-30       Impact factor: 8.237

7.  Alport's syndrome or hereditary nephritis?

Authors:  F A Flinter; M Bobrow; C Chantler
Journal:  Pediatr Nephrol       Date:  1987-07       Impact factor: 3.714

8.  Challenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosis.

Authors:  Xiao-Dan Yao; Xin Chen; Gao-Yuan Huang; Yan-Ting Yu; Shu-Tian Xu; Yang-Lin Hu; Qing-Wen Wang; Hui-Ping Chen; Cai-Hong Zeng; Da-Xi Ji; Wei-Xin Hu; Zheng Tang; Zhi-Hong Liu
Journal:  Orphanet J Rare Dis       Date:  2012-12-21       Impact factor: 4.123
  8 in total

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