Constantinos Pángalos

Pure partial trisomy of the short arm of chromosome 5

Marie Odile Rethoré, Marie Christine de Blois, Marie Peeters et al. · Human Genetics · 1989 · 89 citations

Life Sciences, Genetics, Molecular Genetics +12

Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis

Constantinos Pángalos, Jean‐Louis Blouin, O Raoul et al. · PubMed · 1994 · 84 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Uncovering recurrent microdeletion syndromes and subtelomeric deletions/duplications through non‐selective application of a MLPA‐based extended prenatal panel in routine prenatal diagnosis

Christopher Konialis, Birgitta Hagnefelt, Sophia Sevastidou et al. · Prenatal Diagnosis · 2011 · 82 citations

Life Sciences, Genetics, Molecular Genetics +17

First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects

Constantinos Pángalos, Birgitta Hagnefelt, Christopher Konialis · PeerJ · 2016 · 73 citations · Full text

Life Sciences, Genetics, Obstetrics +17

Normal phenotype with paternal uniparental isodisomy for chromosome 21.

J L Blouin, Dimitris Avramopoulos, Constantinos Pángalos et al. · PubMed · 1993 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10