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1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33316910
11.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29327201
12.
Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22.
Mol Cytogenet
; 11: 26, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29736186
13.
Comparative Cytogenetic Analysis of Spontaneous Abortions in Recurrent and Sporadic Pregnancy Losses.
Biomed Hub
; 1(1): 1-11, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-31988885
14.
Array CGH analysis of a cohort of Russian patients with intellectual disability.
Gene
; 536(1): 145-50, 2014 Feb 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-24291026
15.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-25606055
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