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1.
Correction: Comprehensive analysis of 204 sporadic hydatidiform moles: revisiting risk factors and their correlations with the molar genotypes.
Mod Pathol
; 33(6): 1237, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32051555
2.
Comprehensive analysis of 204 sporadic hydatidiform moles: revisiting risk factors and their correlations with the molar genotypes.
Mod Pathol
; 33(5): 880-892, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31857680
3.
Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.
Am J Med Genet A
; 182(4): 813-822, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31913574
4.
Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis.
J Hum Genet
; 64(3): 253-255, 2019 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-30542208
5.
Diploid/triploid mixoploidy: A consequence of asymmetric zygotic segregation of parental genomes.
Am J Med Genet A
; 176(12): 2720-2732, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30302900
6.
Genomic Characterization of a Metastatic Alveolar Rhabdomyosarcoma Case Using FISH Studies and CGH+SNP Microarray Revealing FOXO1-PAX7 Rearrangement with MYCN and MDM2 Amplification and RB1 Region Loss.
Cytogenet Genome Res
; 150(3-4): 253-261, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-28253504
7.
Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.
J Med Genet
; 51(9): 623-34, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-25097207
8.
Prenatal detection of del(10)(q11.2) mosaicism in chorionic villus specimens likely caused by a common chromosomal fragile site FRA10G is associated with a normal phenotype.
Prenat Diagn
; 32(12): 1166-9, 2012 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-23015528
9.
NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage.
J Med Genet
; 48(8): 540-8, 2011 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-21659348
10.
Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings.
Am J Med Genet A
; 155A(8): 1996-2002, 2011 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-21739591
11.
Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea.
Mol Genet Genomic Med
; 9(4): e1647, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33666368
12.
Simultaneous detection of imprinted gene expression (p57(KIP2)) and molecular cytogenetics (FICTION) in the evaluation of molar pregnancies.
J Reprod Med
; 55(5-6): 219-28, 2010.
Artículo
en Inglés
| MEDLINE | ID: mdl-20626178
13.
A novel NLRP7 protein-truncating mutation associated with discordant and divergent p57 immunostaining in diploid biparental and triploid digynic moles.
Virchows Arch
; 477(2): 309-315, 2020 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-32055942
14.
P57KIP2 immunostaining and molecular cytogenetics: combined approach aids in diagnosis of morphologically challenging cases with molar phenotype and in detecting androgenetic cell lines in mosaic/chimeric conceptions.
Hum Pathol
; 39(1): 63-72, 2008 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-17904617
15.
Maternal GRB10 microdeletion is a novel cause of cystic placenta: Spectrum of genomic changes in the etiology of enlarged cystic placenta.
Placenta
; 57: 33-41, 2017 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-28864017
16.
Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review.
Mol Cytogenet
; 10: 24, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28649281
17.
The genetics of gestational trophoblastic disease: a rare complication of pregnancy.
Cancer Genet
; 205(3): 63-77, 2012 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-22469506
18.
Whole exome sequencing in a random sample of North American women with leiomyomas identifies MED12 mutations in majority of uterine leiomyomas.
PLoS One
; 7(3): e33251, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22428002
19.
Complex X chromosome rearrangement delineated by array comparative genome hybridization in a woman with premature ovarian insufficiency.
Fertil Steril
; 95(7): 2433.e9-15, 2011 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-21530964
20.
The origin of trisomy 22: evidence for acrocentric chromosome-specific patterns of nondisjunction.
Am J Med Genet A
; 143A(19): 2249-55, 2007 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-17705154