M. Fiorenza

Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement

A. Toutain, P. Calvas, N. Chassaing, 2007, American journal of medical genetics. Part A.

Amniotic fluid peptides predict postnatal kidney survival in developmental kidney disease.

A. Raaijmakers, J. Oury, R. Favre, 2020, Kidney international.

First prenatally diagnosed case of 16p11.2p12.1 duplication

F. Terro, C. Yardin, S. Romana, 2008, Prenatal diagnosis.

Two unusual chromosome aberrations ascertained by sonographic anomalies

F. Terro, C. Yardin, S. Bourthoumieu, 2004, Prenatal diagnosis.

Familial 18 centromere variant resulting in difficulties in interpreting prenatal interphase FISH.

F. Terro, C. Yardin, S. Bourthoumieu, 2010, Morphologie : bulletin de l'Association des anatomistes.