J Matern Fetal Neonatal Med. 2011 May;24(5):668-72. Epub 2010 Oct 5.
Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.
Prenat Diagn. 2010 Jun;30(6):586-8.
A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth.
Mol Cytogenet. 2009 Dec 9;2:26.
Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome).
Prenat Diagn. 2009 Sep;29(9):884-8.
Prenatal diagnosis of a fetus with ring chromosome 15 characterized by array-CGH.
J Diabetes Metab 4:250 (2013)
Effect of Gestational Diabetes on Circulating Levels of Maternal and Neonatal Carnitine
J Cytogenetic and Genome Research, Vol.140, No:1 (2013)
Partial Trisomy 2p and Partial Monosomy 2q Arising from a Paternal Intrachromosomal 2q-into-2p Between-Arm Insertion and Paracentric Inversion: Molecular Cytogenetic Characterization of a Four-Break Rearrangement
Mol Syndromol 2013;4:250-254 (2013)
De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia
Mol Cytogenet. 2013 Oct 31;6(1):47
Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH
Mol Med Rep. 2014 Jan;9(1):163-5. doi: 10.3892/mmr.2013.1788. Epub 2013 Nov 11.
Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: A case report.
Gene. 2013 Dec 13. pii: S0378-1119(13)01604-1. doi: 10.1016/j.gene.2013.11.078. [Epub ahead of print]
A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype.