Experts and Doctors on pax2 transcription factor in Paris, Île de France, France
Locale: Paris, Île de France, France
Topic: pax2 transcription factor
Amiel J, Audollent S, Joly D, Dureau P, Salomon R, Tellier A, et al
. PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. Eur J Hum Genet. 2000;8:820-6 pubmed
..Finally, the presence of PAX2 germline mosaicism highlights the difficulties associated with genetic counselling for PAX2 mutations. ..
Salomon R, Tellier A, Attie Bitach T, Amiel J, Vekemans M, Lyonnet S, et al
. PAX2 mutations in oligomeganephronia. Kidney Int. 2001;59:457-62 pubmed
..None of these patients had visual impairment. Ocular anomaly and PAX2 mutations should be sought in all patients with OMN. ..
Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri G, et al
. Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J Am Soc Nephrol. 2006;17:2864-70 pubmed
..In conclusion, 15% of patients with RHD show mutations in TCF2 or PAX2, whereas abnormalities in EYA1, SALL1, and SIX1 are less frequent...
Martinovic Bouriel J, Benachi A, Bonniere M, Brahimi N, Esculpavit C, Morichon N, et al
. PAX2 mutations in fetal renal hypodysplasia. Am J Med Genet A. 2010;152A:830-5 pubmed publisher
..To the best of our knowledge, our first patient represents an unreported fetal diagnosis of papillorenal syndrome, and another example of the impact of oriented fetopathological examination in genetic counseling of the parents. ..
Madariaga L, Moriniere V, Jeanpierre C, Bouvier R, Loget P, Martinovic J, et al
. Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes. Clin J Am Soc Nephrol. 2013;8:1179-87 pubmed publisher