Detalles de la búsqueda
1.
Identification and characterization of stromal-like cells with CD207+/low CD1a+/low phenotype derived from histiocytic lesions - a perspective in vitro model for drug testing.
BMC Cancer
; 24(1): 105, 2024 Feb 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-38342891
2.
Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy loss.
J Assist Reprod Genet
; 39(2): 357-367, 2022 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-35079943
3.
Movement disorders associated with chromosomal aberrations diagnosed in adult patients.
Neurol Neurochir Pol
; 55(3): 300-305, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34037980
4.
Null variants in AGRN cause lethal fetal akinesia deformation sequence.
Clin Genet
; 97(4): 634-638, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31730230
5.
A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.
Am J Med Genet A
; 173(1): 72-78, 2017 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-27612309
6.
Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay.
Am J Med Genet A
; 170A(5): 1325-9, 2016 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-26834018
7.
Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies.
Adv Exp Med Biol
; 912: 1-9, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-26987320
8.
[17p13.3 duplication as a cause of psychomotor developmental delay in an infant - a further case of a new syndrome]. / Duplikacja 17p13.3 jako przyczyna opóznionego rozwoju psychoruchowego u niemowlecia - opis kolejnego przypadku nowego zespolu.
Pol Merkur Lekarski
; 40(238): 255-9, 2016 Apr.
Artículo
en Polaco
| MEDLINE | ID: mdl-27137828
9.
A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures.
Am J Med Genet A
; 167A(8): 1842-50, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-26059046
10.
Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter.
Chromosome Res
; 21(8): 781-8, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24254229
11.
The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children.
Dev Period Med
; 18(3): 307-17, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-25182394
12.
Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and Hydronephrosis.
Genes (Basel)
; 14(3)2023 02 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-36980834
13.
The Generation of Human iPSC Lines from Three Individuals with Dravet Syndrome and Characterization of Neural Differentiation Markers in iPSC-Derived Ventral Forebrain Organoid Model.
Cells
; 12(2)2023 01 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-36672274
14.
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.
Genes (Basel)
; 14(3)2023 03 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-36980952
15.
Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies.
Genes (Basel)
; 13(4)2022 04 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-35456496
16.
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.
Hum Mol Genet
; 18(19): 3579-93, 2009 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-19578123
17.
Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?
Clin Dysmorphol
; 30(2): 76-82, 2021 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33290290
18.
Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities.
Genes (Basel)
; 12(12)2021 12 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-34946970
19.
Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.
Genes (Basel)
; 12(8)2021 08 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-34440431
20.
Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype-phenotype maps.
J Appl Genet
; 49(4): 397-405, 2008.
Artículo
en Inglés
| MEDLINE | ID: mdl-19029687