Detalles de la búsqueda
1.
PGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases.
J Assist Reprod Genet
; 41(5): 1273-1283, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38578603
2.
Skewed X-Chromosome Inactivation as a Possible Marker of X-Linked CNV in Women with Pregnancy Loss.
Cytogenet Genome Res
; 162(3): 97-108, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35636401
3.
BiasCorrector: Fast and accurate correction of all types of experimental biases in quantitative DNA methylation data derived by different technologies.
Int J Cancer
; 149(5): 1150-1165, 2021 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33997972
4.
Differential DNA Methylation of the IMMP2L Gene in Families with Maternally Inherited 7q31.1 Microdeletions is Associated with Intellectual Disability and Developmental Delay.
Cytogenet Genome Res
; 161(3-4): 105-119, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33849037
5.
From contemplation to classification of chromosomal mosaicism in human preimplantation embryos.
J Assist Reprod Genet
; 38(11): 2833-2848, 2021 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-34518954
6.
NLRP7 variants in spontaneous abortions with multilocus imprinting disturbances from women with recurrent pregnancy loss.
J Assist Reprod Genet
; 38(11): 2893-2908, 2021 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-34554362
7.
LINE-1 retrotransposon methylation in chorionic villi of first trimester miscarriages with aneuploidy.
J Assist Reprod Genet
; 38(1): 139-149, 2021 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-33170392
8.
Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss.
Cytogenet Genome Res
; 160(5): 245-254, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32485717
9.
Opening up new horizons for psychiatric genetics in the Russian Federation: moving toward a national consortium.
Mol Psychiatry
; 24(8): 1099-1111, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30664668
10.
A Familial Small Supernumerary Marker Chromosome 15 Associated with Cryptic Mosaicism with Two Different Additional Marker Chromosomes Derived de novo from Chromosome 9: Detailed Case Study and Implications for Recurrent Pregnancy Loss.
Cytogenet Genome Res
; 156(4): 179-184, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30466092
11.
A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability.
Am J Med Genet A
; 176(11): 2395-2403, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30244536
12.
A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech.
Am J Med Genet A
; 170(8): 2089-96, 2016 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-27288323
13.
Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss.
Nat Med
; 29(12): 3233-3242, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37996709
14.
Stem Cell-Based Trophoblast Models to Unravel the Genetic Causes of Human Miscarriages.
Cells
; 11(12)2022 06 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-35741051
15.
Identification of differentially methylated genes in first-trimester placentas with trisomy 16.
Sci Rep
; 12(1): 1166, 2022 01 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-35064135
16.
The Precise Breakpoint Mapping in Paracentric Inversion 10q22.2q23.3 by Comprehensive Cytogenomic Analysis, Multicolor Banding, and Single-Copy Chromosome Sequencing.
Biomedicines
; 10(12)2022 Dec 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-36552011
17.
A cookbook for DNase Hi-C.
Epigenetics Chromatin
; 14(1): 15, 2021 03 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-33743768
18.
Method of targeted bisulfite massive parallel sequencing of the human LINE-1 retrotransposon promoter.
MethodsX
; 8: 101445, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34434857
19.
Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing.
Biomedicines
; 9(8)2021 Aug 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-34440234
20.
Aneuploidy and DNA Methylation as Mirrored Features of Early Human Embryo Development.
Genes (Basel)
; 11(9)2020 09 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-32957536