Jacqueline Aziza

Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

Olivier Gribouval, Marie Gonzalès, Thomas J. Neuhaus et al. · Nature Genetics · 2005 · 287 citations

Renal Function, Developmental Biology, Genetics +7

Anomalies of the TCF2 Gene Are the Main Cause of Fetal Bilateral Hyperechogenic Kidneys

Stéphane Decramer, Olivier Parant, Sandrine Beaufils et al. · Journal of the American Society of Nephrology · 2007 · 245 citations

Genetics, Renal Pathology, Pathology +17

Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

Sandrine Vuillaumier‐Barrot, C. Bouchet-Séraphin, M. Chelbi et al. · The American Journal of Human Genetics · 2012 · 138 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +6

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice

Lara De Tomasi, Pierre David, Camille Humbert et al. · The American Journal of Human Genetics · 2017 · 113 citations · Full text

Urology, Developmental Biology, Medicine +7

Renal Tubular Dysgenesis, a Not Uncommon Autosomal Recessive Disorder Leading to Oligohydramnios

Mireille Lacoste, Yi Cai, Liliane Guicharnaud et al. · Journal of the American Society of Nephrology · 2006 · 103 citations

Renal Pathology, Pathology, Congenital Heart Anomaly +18