Δημοσιεύσεις

  • Eur J Med Genet. 2012 Jul 25. [Epub ahead of print]

A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2

  • Clin Exp Obstet Gynecol. 2012;39(1):118-21.

First trimester diagnosis of 13q-syndrome associated with increased fetal nuchal translucency thickness. Clinical findings and systematic review.

  • Prenat Diagn. 2012 Jul;32(7):680-5. doi: 10.1002/pd.3888. Epub 2012 Apr 18.

Dual testing with QF-PCR and karyotype analysis for prenatal diagnosis of chromosomal abnormalities. Evaluation of 13,500 cases with consideration of using QF-PCR as a stand-alone test according to referral indications.

  • Cytogenet Genome Res. 2012;136(4):237-41. Epub 2012 Apr 5.

Tetrasomy 9p mosaicism associated with a normal phenotype in two cases.

  • Cytogenet Genome Res. 2012;136(4):237-41. Epub 2012 Apr 5.

Tetrasomy 9p mosaicism associated with a normal phenotype in two cases.

  • Clin Dysmorphol. 2012 Apr;21(2):101-5.

Prenatal detection of an inverted duplication deletion in the long arm of chromosome 1 in a fetus with increased nuchal translucency. Molecular cytogenetic analysis and review of the literature.