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Literature DB >> 17403695

Renal hypoplasia without optic coloboma associated with PAX2 gene deletion.

Elisa Benetti¹, Lina Artifoni, Leonardo Salviati, Luisa Pinello, Silverio Perrotta, Orsetta Zuffardi, Graziella Zacchello, Luisa Murer.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2007 PMID： 17403695 DOI： 10.1093/ndt/gfm187

Source DB: PubMed Journal: Nephrol Dial Transplant ISSN： 0931-0509 Impact factor: 5.992

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11 in total

1. Clinical utility gene card for: renal coloboma (Papillorenal) syndrome.

Authors: Matthew Bower; Michael Eccles; Laurence Heidet; Lisa A Schimmenti
Journal: Eur J Hum Genet Date: 2011-02-16 Impact factor: 4.246

Review 2. From ureteric bud to the first glomeruli: genes, mediators, kidney alterations.

Authors: Vassilios Fanos; Cristina Loddo; Melania Puddu; Clara Gerosa; Daniela Fanni; Giovanni Ottonello; Gavino Faa
Journal: Int Urol Nephrol Date: 2014-09-09 Impact factor: 2.370

Review 3. Renal coloboma syndrome.

Authors: Lisa A Schimmenti
Journal: Eur J Hum Genet Date: 2011-06-08 Impact factor: 4.246

4. Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

Authors: Laurence Heidet; Vincent Morinière; Charline Henry; Lara De Tomasi; Madeline Louise Reilly; Camille Humbert; Olivier Alibeu; Cécile Fourrage; Christine Bole-Feysot; Patrick Nitschké; Frédéric Tores; Marc Bras; Marc Jeanpierre; Christine Pietrement; Dominique Gaillard; Marie Gonzales; Robert Novo; Elise Schaefer; Joëlle Roume; Jelena Martinovic; Valérie Malan; Rémi Salomon; Sophie Saunier; Corinne Antignac; Cécile Jeanpierre
Journal: J Am Soc Nephrol Date: 2017-05-31 Impact factor: 10.121

Review 10. New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature.

Authors: Li Zhang; Shu-Bo Zhai; Leng-Yue Zhao; Yan Zhang; Bai-Chao Sun; Qing-Shan Ma
Journal: BMC Nephrol Date: 2018-09-21 Impact factor: 2.388

Renal hypoplasia without optic coloboma associated with PAX2 gene deletion.

1. Clinical utility gene card for: renal coloboma (Papillorenal) syndrome.

Review 2. From ureteric bud to the first glomeruli: genes, mediators, kidney alterations.

Review 3. Renal coloboma syndrome.

4. Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

5. Ectopic Pax2 expression in chick ventral optic cup phenocopies loss of Pax2 expression.

6. Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene.

7. Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma.

8. Diverse phenotypes in children with PAX2-related disorder.

Review 9. The Role of PAX2 in Neurodevelopment and Disease.

Review 10. New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature.