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.

• Mol Cytogenet. 2012 Feb 28;5:12.
  Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature.

• Am J Med Genet A. 2011 Jun;155A(6):1476-82. doi: 10.1002/ajmg.a.33981. Epub 2011 May 12.
  Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation.

• Mol Med Report. 2010 Nov-Dec;3(6):1015-22. doi: 10.3892/mmr.2010.358. Epub 2010 Sep 10.
  Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization.

• Placenta. 2011 Jan;32(1):102-4. Epub 2010 Nov 18.
  Non-trophoblastic tumor of the placenta with combined histologic features of chorangioma and leiomyoma.

• 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.