Detalhe da pesquisa
1.
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
Hum Mutat
; 41(11): 1906-1917, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32939943
2.
Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients.
Ann Hum Genet
; 79(1): 20-7, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25393764
3.
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
4.
The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers.
Orphanet J Rare Dis
; 17(1): 136, 2022 03 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35331284
5.
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
6.
Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms.
Front Genet
; 11: 604806, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33584802
7.
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
8.
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
9.
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
10.
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
11.
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
12.
Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome.
Clin Dysmorphol
; 26(2): 61-65, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28145909
13.
Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing.
PLoS One
; 12(1): e0169935, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28072833
14.
Oculo-Dento-Digital Dysplasia (ODDD) Due to a GJA1 Mutation: Report of a Case with Emphasis on Dental Manifestations.
Int J Prosthodont
; 30(3): 280285, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28319210
15.
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
16.
Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report.
Oncol Lett
; 11(1): 471-473, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26834852
17.
Evidence of digenic inheritance in autoinflammation-associated genes.
J Genet
; 95(4): 761-766, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27994174
18.
Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata.
Case Rep Genet
; 2016: 5208312, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27123349
19.
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
20.
Novel GLI3 mutation in a Greek-Cypriot patient with Greig cephalopolysyndactyly syndrome.
Clin Dysmorphol
; 24(3): 102-5, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25714367