Detalhe da pesquisa
1.
An Unusual Presentation of Novel Missense Variant in PAX6 Gene: NM_000280.4:c.341A>G, p.(Asn114Ser).
Curr Issues Mol Biol
; 46(1): 96-105, 2023 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38248310
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-35636401
3.
Case Report: Compound Heterozygous Variants of the MAN1B1 Gene in a Russian Patient with Rafiq Syndrome.
Int J Mol Sci
; 23(18)2022 Sep 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36142510
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-33849037
5.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-34554362
6.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-32485717
7.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-30244536
8.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-27288323
9.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-36552011
10.
Gene Expression Profiling Revealed 2 Types of Bronchial Basal Cell Hyperplasia and Squamous Metaplasia With Different Progression Potentials.
Appl Immunohistochem Mol Morphol
; 28(6): 477-483, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30896548
11.
46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study.
Genes (Basel)
; 11(12)2020 12 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33316910
12.
Karyotype of the blastocoel fluid demonstrates low concordance with both trophectoderm and inner cell mass.
Fertil Steril
; 109(6): 1127-1134.e1, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29935648
13.
Allele-Specific Biased Expression of the CNTN6 Gene in iPS Cell-Derived Neurons from a Patient with Intellectual Disability and 3p26.3 Microduplication Involving the CNTN6 Gene.
Mol Neurobiol
; 55(8): 6533-6546, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29327201
14.
Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22.
Mol Cytogenet
; 11: 26, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29736186
15.
Clinically relevant morphological structures in breast cancer represent transcriptionally distinct tumor cell populations with varied degrees of epithelial-mesenchymal transition and CD44+CD24- stemness.
Oncotarget
; 8(37): 61163-61180, 2017 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-28977854
16.
Genomic structural variations for cardiovascular and metabolic comorbidity.
Sci Rep
; 7: 41268, 2017 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-28120895
17.
Comparative Cytogenetic Analysis of Spontaneous Abortions in Recurrent and Sporadic Pregnancy Losses.
Biomed Hub
; 1(1): 1-11, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-31988885
18.
Array CGH analysis of a cohort of Russian patients with intellectual disability.
Gene
; 536(1): 145-50, 2014 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24291026
19.
Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.
Mol Cytogenet
; 7(1): 97, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25606055
20.
Phenotypic drift as a cause for intratumoral morphological heterogeneity of invasive ductal breast carcinoma not otherwise specified.
Biores Open Access
; 2(2): 148-54, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23593567