Detalhe da pesquisa
1.
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.
Am J Obstet Gynecol
; 230(3): 368.e1-368.e12, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37717890
2.
Deep Learning-Based Analysis of Face Images as a Screening Tool for Genetic Syndromes.
Sensors (Basel)
; 21(19)2021 Oct 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34640916
3.
Movement disorders associated with chromosomal aberrations diagnosed in adult patients.
Neurol Neurochir Pol
; 55(3): 300-305, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34037980
4.
Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.
Genet Med
; 22(2): 326-335, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31474763
5.
Null variants in AGRN cause lethal fetal akinesia deformation sequence.
Clin Genet
; 97(4): 634-638, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31730230
6.
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.
Genes (Basel)
; 14(3)2023 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980952
7.
Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience.
Genes (Basel)
; 13(5)2022 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35627109
8.
Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies.
Genes (Basel)
; 13(4)2022 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35456496
9.
Gene expression studies in cells from primary ciliary dyskinesia patients identify 208 potential ciliary genes.
Hum Genet
; 129(3): 283-93, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21136274
10.
Prenatal diagnosis of glutaric acidemia type 2 with the use of exome sequencing - an up-to-date review and new case report.
Ginekol Pol
; 92(1): 51-56, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33448012
11.
Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities.
Genes (Basel)
; 12(12)2021 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34946970
12.
Serum levels of hepcidin and interleukin 6 in Parkinson's disease.
Acta Neurobiol Exp (Wars)
; 80(3): 297-304, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32990287
13.
The matter of significance - Has the p.(Glu121Lys) variant of TOR1A gene a pathogenic role in dystonia or Parkinson disease?
J Clin Neurosci
; 72: 501-503, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31892495
14.
Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q.
Eur J Hum Genet
; 16(6): 688-95, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18270537
15.
Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions.
J Appl Genet
; 45(3): 347-61, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15306728
16.
Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients.
PLoS One
; 9(2): e88216, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24516614
17.
RPGR mutations might cause reduced orientation of respiratory cilia.
Pediatr Pulmonol
; 48(4): 352-63, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22888088