Literature DB >> 8589702

Mutation of PAX2 in two siblings with renal-coloboma syndrome.

P Sanyanusin1, L A McNoe, M J Sullivan, R G Weaver, M R Eccles.   

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Year:  1995        PMID： 8589702     DOI： 10.1093/hmg/4.11.2183

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  45 in total

1.  Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease.

Authors:  K Narahara; E Baker; S Ito; Y Yokoyama; S Yu; D Hewitt; G R Sutherland; M R Eccles; R I Richards
Journal:  J Med Genet       Date:  1997-03       Impact factor: 6.318

Review 2.  Exploring the genetic basis of early-onset chronic kidney disease.

Authors:  Asaf Vivante; Friedhelm Hildebrandt
Journal:  Nat Rev Nephrol       Date:  2016-01-11       Impact factor: 28.314

Review 3.  MicroRNAs: potential regulators of renal development genes that contribute to CAKUT.

Authors:  April K Marrone; Jacqueline Ho
Journal:  Pediatr Nephrol       Date:  2013-09-03       Impact factor: 3.714

4.  A genome-wide scan for genes involved in primary vesicoureteric reflux.

Authors:  H Kelly; C M Molony; J M Darlow; M E Pirker; A Yoneda; A J Green; P Puri; D E Barton
Journal:  J Med Genet       Date:  2007-07-27       Impact factor: 6.318

5.  Lineage-specific responses to reduced embryonic Pax3 expression levels.

Authors:  Hong-Ming Zhou; Jian Wang; Rhonda Rogers; Simon J Conway
Journal:  Dev Biol       Date:  2007-12-27       Impact factor: 3.582

6.  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 7.  Patterning and early cell lineage decisions in the developing kidney: the role of Pax genes.

Authors:  Gregory R Dressler
Journal:  Pediatr Nephrol       Date:  2011-01-11       Impact factor: 3.714

8.  Cooperation of Pax2 and Pax5 in midbrain and cerebellum development.

Authors:  P Urbánek; I Fetka; M H Meisler; M Busslinger
Journal:  Proc Natl Acad Sci U S A       Date:  1997-05-27       Impact factor: 11.205

9.  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

10.  Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24.

Authors:  Shazia Ashraf; Bethan E Hoskins; Hassan Chaib; Julia Hoefele; Andreas Pasch; Pawaree Saisawat; Friedrich Trefz; Hans W Hacker; Gudrun Nuernberg; Peter Nuernberg; Edgar A Otto; Friedhelm Hildebrandt
Journal:  Nephrol Dial Transplant       Date:  2009-12-10       Impact factor: 5.992
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