Pangalos C - Search Results

1

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

Pangalos C, Hagnefelt B, Lilakos K, Konialis C. Pangalos C, et al. PeerJ. 2016 Apr 26;4:e1955. doi: 10.7717/peerj.1955. eCollection 2016. PeerJ. 2016. PMID: 27168972 Free PMC article.

2

Prenatal diagnosis of X-linked myopathy associated with a VMA21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings.

Konialis C, Assimakopoulos E, Hagnefelt B, Karapanou S, Sotiriadis A, Pangalos C. Konialis C, et al. Among authors: pangalos c. Clin Case Rep. 2017 Feb 4;5(3):308-311. doi: 10.1002/ccr3.822. eCollection 2017 Mar. Clin Case Rep. 2017. PMID: 28265396 Free PMC article.

3

CFTR DeltaF508 mutation detection from dried blood samples in the first trimester of pregnancy: a possible routine prenatal screening strategy for cystic fibrosis?

Konialis CP, Hagnefelt B, Kazamia C, Karapanou S, Pangalos C. Konialis CP, et al. Among authors: pangalos c. Fetal Diagn Ther. 2007;22(1):41-4. doi: 10.1159/000095842. Epub 2006 Sep 22. Fetal Diagn Ther. 2007. PMID: 17003555

4

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

Konialis C, Hagnefelt B, Sevastidou S, Karapanou S, Pispili K, Markaki A, Pangalos C. Konialis C, et al. Among authors: pangalos c. Prenat Diagn. 2011 Jun;31(6):571-7. doi: 10.1002/pd.2750. Epub 2011 Mar 29. Prenat Diagn. 2011. PMID: 21448863

5

A novel β(0)-thalassemia frameshift mutation: [HBB:c.216delT].

Konialis C, Hagnefelt B, Sevastidou S, Pispili K, Pangalos C. Konialis C, et al. Among authors: pangalos c. Hemoglobin. 2012;36(6):586-8. doi: 10.3109/03630269.2012.736442. Epub 2012 Oct 29. Hemoglobin. 2012. PMID: 23106651

6

Dilemmas in Prenatal Chromosomal Diagnosis Revealed Through a Single Center's 30 Years' Experience and 90,000 Cases.

Konialis C, Pangalos C. Konialis C, et al. Among authors: pangalos c. Fetal Diagn Ther. 2015;38(3):218-32. doi: 10.1159/000368604. Epub 2015 Jan 30. Fetal Diagn Ther. 2015. PMID: 25659342

7

Birth of a healthy histocompatible sibling following preimplantation genetic diagnosis for chronic granulomatous disease at the blastocyst stage coupled to HLA typing.

Pangalos CG, Hagnefelt B, Kokkali G, Pantos K, Konialis CP. Pangalos CG, et al. Fetal Diagn Ther. 2008;24(4):334-9. doi: 10.1159/000160665. Epub 2008 Oct 8. Fetal Diagn Ther. 2008. PMID: 18841023

8

The APOE E4 Allele Confers Increased Risk of Ischemic Stroke Among Greek Carriers.

Konialis C, Spengos K, Iliopoulos P, Karapanou S, Gialafos E, Hagnefelt B, Vemmos K, Zakopoulos N, Pangalos C. Konialis C, et al. Among authors: pangalos c. Adv Clin Exp Med. 2016 May-Jun;25(3):471-8. doi: 10.17219/acem/38841. Adv Clin Exp Med. 2016. PMID: 27629735 Free article.

9

Pregnancy following preimplantation genetic diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Konialis C, Hagnefelt B, Kokkali G, Pantos C, Pangalos C. Konialis C, et al. Among authors: pangalos c. Prenat Diagn. 2007 Nov;27(11):1079-83. doi: 10.1002/pd.1837. Prenat Diagn. 2007. PMID: 17729386

10

A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature.

Aravidis C, Konialis CP, Pangalos CG, Kosmaidou Z. Aravidis C, et al. Among authors: pangalos cg. J Matern Fetal Neonatal Med. 2014 Sep;27(14):1502-6. doi: 10.3109/14767058.2013.860520. Epub 2013 Nov 29. J Matern Fetal Neonatal Med. 2014. PMID: 24168007 Review.

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