Detalhe da pesquisa
1.
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
em Inglês
| MEDLINE | ID: mdl-37924258
2.
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
3.
SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations.
Int J Mol Sci
; 25(11)2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38891831
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.
Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.
Eur J Pediatr
; 181(10): 3691-3700, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904599
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.
A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array.
Neuropediatrics
; 50(1): 61-63, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30541163
8.
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.
Am J Hum Genet
; 97(6): 922-32, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637982
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.
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
Hum Mutat
; 36(4): 395-402, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604253
11.
Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies.
Am J Med Genet A
; 164A(3): 666-70, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24375959
12.
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
13.
Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease.
Pediatr Res
; 73(6): 772-6, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23481551
14.
Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?
Genes (Basel)
; 14(8)2023 07 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628571
15.
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
em Inglês
| MEDLINE | ID: mdl-37323200
16.
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
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.
Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.
Eur J Pediatr
; 171(1): 51-8, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21590266