Detalhe da pesquisa
1.
Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population.
J Hum Genet
; 65(9): 783-795, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32398760
2.
Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: review of the literature.
Am J Med Genet A
; 167A(3): 664-9, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25691421
3.
Two unrelated individuals carrying rare mosaic deletions in TCF4 gene.
Am J Med Genet A
; 179(1): 134-138, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30450687
4.
A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report.
BMC Med Genomics
; 17(1): 78, 2024 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38528593
5.
Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.
Genes (Basel)
; 15(1)2024 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38255008
6.
FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.
Hum Mol Genet
; 20(10): 1925-36, 2011 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21349920
7.
Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene.
Mol Cytogenet
; 16(1): 8, 2023 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37217936
8.
CHD2 pathogenic nonsense variant in a three-generation family with variable phenotype and a paracentric inversion 16: Case report.
Heliyon
; 9(12): e22987, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38125503
9.
GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.
Mol Genet Metab Rep
; 36: 100997, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37600231
10.
Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing.
Genes (Basel)
; 14(1)2022 12 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672823
11.
Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population.
PLoS One
; 16(7): e0253562, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34324503
12.
An unusual combination of an atypical maternally inherited novel 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis.
Eur J Med Genet
; 63(12): 104084, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33045407
13.
De novo mosaic MECP2 mutation in a female with Rett syndrome.
Clin Case Rep
; 7(2): 366-370, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30847208
14.
Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases.
PLoS One
; 13(10): e0205298, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30289920
15.
Aniridia due to a novel microdeletion affecting PAX6 regulatory enhancers: case report and review of the literature.
J Genet
; 97(2): 555-562, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29932076
16.
Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation.
Mol Med Rep
; 18(2): 1623-1627, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29901133
17.
A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.
Biomed Rep
; 4(2): 215-218, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26893841
18.
Deletion of SNURF/SNRPN U1B and U1B* upstream exons in a child with developmental delay and excessive weight.
J Genet
; 95(3): 621-4, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27659333
19.
Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata.
Case Rep Genet
; 2016: 5208312, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27123349
20.
Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.
J Genet
; 95(4): 839-845, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27994182