Detalhe da pesquisa
1.
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Hum Mutat
; 41(1): 255-264, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31544997
2.
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
3.
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
4.
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
Hum Mutat
; 35(10): 1203-10, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25044680
5.
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
6.
Author's Reply: Myotonic dystrophy: The occurrence of early-onset cataract.
Neurol India
; 65(4): 923, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28681796
7.
Survivin regulation by HER2 through NF-κB and c-myc in irradiated breast cancer cells.
J Cell Mol Med
; 15(7): 1542-50, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20716114
8.
UBE3A, c.1347_1348delGA: a mutation in question.
Clin Chem Lab Med
; 54(4): e143-4, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26457786
9.
Myotonic dystrophy type 2 presenting as inflammatory myopathy.
Neurol India
; 64(5): 1051-2, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27625258
10.
Knowledge and attitudes towards prenatal diagnostic procedures among pregnant women in Greece.
Fetal Diagn Ther
; 27(3): 149-55, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20215732
11.
Proliferative and chondrogenic potential of mesenchymal stromal cells from pluripotent and bone marrow cells.
Histol Histopathol
; 35(12): 1415-1426, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32959885
12.
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
13.
Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA.
J Neurol Sci
; 395: 95-105, 2018 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30308447
14.
Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion.
Eur J Med Genet
; 50(1): 73-8, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17194633
15.
Genetic polymorphisms in the UGT1A1 gene and breast cancer risk in Greek women.
Genet Test
; 11(3): 303-6, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17949292
16.
Maternal epigenetics and fetal and neonatal growth.
Curr Opin Endocrinol Diabetes Obes
; 24(1): 43-46, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27898587
17.
Short stature and dysmorphology associated with defects in the SHOX gene.
Hormones (Athens)
; 5(2): 107-18, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16807223
18.
Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases.
Meta Gene
; 8: 37-43, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27014590
19.
Caveolinopathies in Greece.
Neurologist
; 20(1): 8-12, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26185955
20.
An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.
Mol Cytogenet
; 8: 64, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26269715