Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 [AN UNUSUAL CONGENITAL AND FAMILIAL CONGENITAL MALFORMATIVE COMBINATION INVOLVING THE EYE AND KIDNEY].

Literature DB >> 14136829

[AN UNUSUAL CONGENITAL AND FAMILIAL CONGENITAL MALFORMATIVE COMBINATION INVOLVING THE EYE AND KIDNEY].

M PIERSON, J CORDIER, F HERVOUUET, G RAUBER.

Abstract

Entities: Disease Gene Mutation

Keywords: ABNORMALITIES; GENETICS, HUMAN; INFANT, NEWBORN; KIDNEY DISEASES; OPHTHALMOLOGY

Mesh：

Year: 1963 PMID： 14136829

Source DB: PubMed Journal: J Genet Hum ISSN： 0021-7743

Keyword Cloud
Cited

× No keyword cloud information.

27 in total

Review 1. Cell-matrix adhesion of podocytes in physiology and disease.

Authors: Norman Sachs; Arnoud Sonnenberg
Journal: Nat Rev Nephrol Date: 2013-01-22 Impact factor: 28.314

2. Pierson syndrome - a rare cause of congenital nephrotic syndrome.

Authors: Arul Premanand Lionel; Leni Kumar Joseph; Anna Simon
Journal: Indian J Pediatr Date: 2014-06-19 Impact factor: 1.967

Review 3. Rethinking glomerular basement membrane thickening in diabetic nephropathy: adaptive or pathogenic?

Authors: Caroline B Marshall
Journal: Am J Physiol Renal Physiol Date: 2016-08-31

4. Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children.

Authors: Ibtihel Benhaj Mbarek; Saoussen Abroug; Asma Omezzine; Audrey Pawtowski; Marie Claire Gubler; Ali Bouslama; Abdelaziz Harbi; Corinne Antignac
Journal: Pediatr Nephrol Date: 2010-12-02 Impact factor: 3.714

5. A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.

Authors: Brian G Mohney; Jose S Pulido; Noralane M Lindor; Marie C Hogan; Mark B Consugar; Justin Peters; V Shane Pankratz; Samih H Nasr; Stephen J Smith; James Gloor; Vickie Kubly; Dorothy Spencer; Rebecca Nielson; Erik G Puffenberger; Kevin A Strauss; D Holmes Morton; Lama Eldahdah; Peter C Harris
Journal: Ophthalmology Date: 2011-01-13 Impact factor: 12.079

[AN UNUSUAL CONGENITAL AND FAMILIAL CONGENITAL MALFORMATIVE COMBINATION INVOLVING THE EYE AND KIDNEY].

Review 1. Cell-matrix adhesion of podocytes in physiology and disease.

2. Pierson syndrome - a rare cause of congenital nephrotic syndrome.

Review 3. Rethinking glomerular basement membrane thickening in diabetic nephropathy: adaptive or pathogenic?

4. Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children.

5. A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.

6. Variable phenotype of Pierson syndrome.

Review 7. The glomerular basement membrane as a barrier to albumin.

Review 8. The role of laminins in the organization and function of neuromuscular junctions.

9. A milder variant of Pierson syndrome.

Review 10. Alport syndrome: its effects on the glomerular filtration barrier and implications for future treatment.