Detalhe da pesquisa
1.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Am J Hum Genet
; 111(1): 200-210, 2024 Jan 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38118446
2.
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Genet Med
; 26(2): 101013, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37924258
3.
Genetically confirmed coexistence of neurofibromatosis type 1 and Cherubism in a pediatric patient.
Mol Biol Rep
; 51(1): 216, 2024 Jan 28.
Artigo
Inglês
| MEDLINE | ID: mdl-38281202
4.
Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of ß-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management.
Int J Mol Sci
; 25(6)2024 Mar 17.
Artigo
Inglês
| MEDLINE | ID: mdl-38542374
5.
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
Hum Mutat
; 43(8): 1089-1096, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34510646
6.
A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype.
Am J Med Genet A
; 188(12): 3563-3566, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36135319
7.
Bilateral Gonadoblastoma in a 6-Year-old Girl With Frasier Syndrome: Need for Early Preventive Gonadectomy.
J Pediatr Hematol Oncol
; 44(8): 471-473, 2022 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35700406
8.
An Update on Non-invasive Approaches for Genetic Testing of the Preimplantation Embryo.
Curr Genomics
; 23(5): 337-352, 2022 Nov 18.
Artigo
Inglês
| MEDLINE | ID: mdl-36778192
9.
A Greek National Cross-Sectional Study on Myotonic Dystrophies.
Int J Mol Sci
; 23(24)2022 Dec 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36555146
10.
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
Am J Med Genet A
; 185(8): 2561-2571, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34008892
11.
Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.
Am J Hum Genet
; 101(3): 326-339, 2017 Sep 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28844486
12.
Reprogramming of bone marrow derived mesenchymal stromal cells to human induced pluripotent stem cells from pediatric patients with hematological diseases using a commercial mRNA kit.
Blood Cells Mol Dis
; 76: 32-39, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30709626
13.
Submitting Novel Globin Gene Variants to Hemoglobin.
Hemoglobin
; 47(4): 135-136, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37920883
14.
A new gene associated with a ß-thalassemia phenotype: the observation of variants in SUPT5H.
Blood
; 136(15): 1789-1793, 2020 10 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32589702
15.
Adult-onset beta-thalassaemia intermedia caused by a 5-Mb somatic clonal segmental deletion in haemopoietic stem cells involving the ß-globin locus.
Br J Haematol
; 186(6): e165-e170, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31206601
16.
Abnormal DLK1/MEG3 imprinting correlates with decreased HERV-K methylation after assisted reproduction and preimplantation genetic diagnosis.
Stress
; 16(6): 689-97, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23786541
17.
Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7.
Mol Syndromol
; 14(3): 225-230, 2023 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-37323200
18.
Screening for the FMR1 premutation in Greek patients with late-onset movement disorders.
Parkinsonism Relat Disord
; 107: 105253, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36549234
19.
Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome.
Hormones (Athens)
; 22(3): 515-520, 2023 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-37493943
20.
Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.
Genes (Basel)
; 14(7)2023 07 21.
Artigo
Inglês
| MEDLINE | ID: mdl-37510394