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.
De novo unbalanced translocations have a complex history/aetiology.
Hum Genet
; 137(10): 817-829, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30276538
3.
Whole-genome fetal and maternal DNA methylation analysis using MeDIP-NGS for the identification of differentially methylated regions.
Genet Res (Camb)
; 98: e15, 2016 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27834155
4.
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
5.
Modulation of the genome and epigenome of individuals susceptible to autism by environmental risk factors.
Int J Mol Sci
; 16(4): 8699-718, 2015 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25903146
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
De novo 5q35.5 duplication with clinical presentation of Sotos syndrome.
Am J Med Genet A
; 155A(10): 2501-7, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21998857
14.
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
15.
Phenotype-genotype correlation of a patient with a "balanced" translocation 9;15 and cryptic 9q34 duplication and 15q21q25 deletion.
Am J Med Genet A
; 152A(6): 1515-22, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20503328
16.
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
17.
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
18.
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Mol Cytogenet
; 12: 48, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31832098
19.
Distal del(4) (q33) syndrome: detailed clinical presentation and molecular description with array-CGH.
Eur J Med Genet
; 51(1): 61-7, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-17998173
20.
Molecular and clinical description of a girl with a 46,X,t(Y;4)(q11.2;p16)/45,X,der(4)t(Y;4)(q11.2;p16) karyotype and a small cryptic 4p subtelomeric deletion.
Am J Med Genet A
; 146A(7): 893-8, 2008 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18302279