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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.
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
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.
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
6.
Recent insights into regulation of transcription by RNA polymerase III and the cellular functions of its transcripts.
Biol Chem
; 392(5): 395-404, 2011 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-21417954
7.
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
8.
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
9.
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
10.
Features of chromosomal abnormalities in spontaneous abortion cell culture failures detected by interphase FISH analysis.
Eur J Hum Genet
; 12(7): 513-20, 2004 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-15054396
11.
A mathematical model for evaluation of maternal cell contamination in cultured cells from spontaneous abortions: significance for cytogenetic analysis of prenatal selection factors.
Fertil Steril
; 83(4): 964-72, 2005 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-15820808
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