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 · 289 citations

Medicine, Genetics, Molecular Genetics +14

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 · 246 citations

Medicine, Genetics, Obstetrics +16

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 · 140 citations · Full text

Life Sciences, Genetics, Neuroscience +10

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 · 114 citations · Full text

Medicine, Genetics, Molecular Genetics +12

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

Medicine, Genetics, Pediatrics +17