Detalhe da pesquisa
1.
Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier.
Muscle Nerve
; 2024 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38855810
2.
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Brain
; 146(2): 534-548, 2023 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35979925
3.
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
em Inglês
| MEDLINE | ID: mdl-38542374
4.
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
em Inglês
| MEDLINE | ID: mdl-36135319
5.
A Greek National Cross-Sectional Study on Myotonic Dystrophies.
Int J Mol Sci
; 23(24)2022 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36555146
6.
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
em Inglês
| MEDLINE | ID: mdl-34008892
7.
Detection of a novel unbalanced X;21 translocation in a girl with Turner syndrome phenotype.
Gynecol Endocrinol
; 37(4): 377-381, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33356667
8.
The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data.
Pediatr Blood Cancer
; 64(11)2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28509441
9.
Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses.
Birth Defects Res A Clin Mol Teratol
; 106(7): 536-41, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26969897
10.
A dynamic trinucleotide repeat (TNR) expansion in the DMD gene.
Mol Cell Probes
; 30(4): 254-260, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27417533
11.
A novel large deletion of the ICR1 region including H19 and putative enhancer elements.
BMC Med Genet
; 16: 30, 2015 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25943194
12.
Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia.
Pediatr Blood Cancer
; 61(12): 2249-55, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25132370
13.
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Eur J Hum Genet
; 2024 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38678163
14.
The Diverse Genomic Landscape of Diamond-Blackfan Anemia: Two Novel Variants and a Mini-Review.
Children (Basel)
; 10(11)2023 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38002903
15.
Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.
Genes (Basel)
; 14(7)2023 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37510394
16.
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity.
Expert Rev Mol Diagn
; 23(11): 999-1010, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37754746
17.
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
Expert Rev Mol Diagn
; 23(1): 85-103, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36714946
18.
Familial Pelizaeus-Merzbacher disease caused by a 320.6-kb Xq22.2 duplication and the pathological findings of a male fetus.
Birth Defects Res A Clin Mol Teratol
; 94(6): 494-8, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22511562
19.
An unusual case of Cat-Eye syndrome phenotype and extragonadal mature teratoma: review of the literature.
Birth Defects Res A Clin Mol Teratol
; 94(7): 561-6, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22730277
20.
Heterozygosity of the Complex Corfu δ0ß+ Thalassemic Allele (HBD Deletion and HBB:c.92+5G>A) Revisited
Biology (Basel)
; 11(3)2022 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35336809