Experts and Doctors on urogenital abnormalities in Paris, Île de France, France
Locale: Paris, Île de France, France
Topic: urogenital abnormalities
Gribouval O, Moriniere V, Pawtowski A, Arrondel C, Sallinen S, Saloranta C, et al
. Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Hum Mutat. 2012;33:316-26 pubmed publisher
..The identification of the disease on the basis of precise clinical and histological analyses and the characterization of the genetic defects allow genetic counseling and early prenatal diagnosis. ..
De Tomasi L, David P, Humbert C, Silbermann F, Arrondel C, Tores F, et al
. Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice. Am J Hum Genet. 2017;101:803-814 pubmed publisher
..This demonstrates that GREB1L plays a major role in early metanephros and genital development in mice and humans. ..
Dhombres F, Jouannic J, Brodaty G, Bessiere B, Daffos F, Benifla J. Contribution of prenatal imaging to the anatomical assessment of fetal hydrocolpos. Ultrasound Obstet Gynecol. 2007;30:101-4 pubmed
Michaud A, Bur D, Gribouval O, Muller L, Iturrioz X, Clemessy M, et al
. Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking. Hum Mol Genet. 2011;20:301-11 pubmed publisher
..This is the first characterization of the mechanisms underlying loss of renin function in RTD. ..
Vuillard E, Chitrit Y, Dreux S, Elghoneimi A, Oury J, Muller F. Sonographic measurement of corpus spongiosum in male fetuses. Prenat Diagn. 2011;31:1160-3 pubmed publisher
..These references can be useful when fetal genital anomalies are suspected, particularly to distinguish micropenis from concealed penis cases...
Humbert C, Silbermann F, Morar B, Parisot M, Zarhrate M, Masson C, et al
. Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans. Am J Hum Genet. 2014;94:288-94 pubmed publisher
..These results demonstrate that mutations of ITGA8 are a genetic cause of bilateral renal agenesis and that, at least in some cases, bilateral renal agenesis is an autosomal-recessive disease...
Heidet L, Moriniere V, Henry C, De Tomasi L, Reilly M, Humbert C, et al
. Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol. 2017;28:2901-2914 pubmed publisher
..Targeted exome sequencing also proved to be an efficient and cost-effective strategy to identify pathogenic mutations and deletions in known CAKUT genes. ..