Detalhe da pesquisa
1.
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Brain
; 144(5): 1451-1466, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33855352
2.
Analysis of the Origin of Double Mosaic Aneuploidy in Two Cases.
Cytogenet Genome Res
; 160(3): 118-123, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32248198
3.
A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia.
J Hum Genet
; 65(8): 705-709, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277176
4.
An aggressive systemic mastocytosis preceded by ovarian dysgerminoma.
BMC Cancer
; 20(1): 1162, 2020 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33246418
5.
Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report.
BMC Med Genet
; 19(1): 210, 2018 12 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30541480
6.
Potential role for nectin-4 in the pathogenesis of pre-eclampsia: a molecular genetic study.
BMC Med Genet
; 19(1): 166, 2018 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30217189
7.
Prevalence of Emanuel syndrome: theoretical frequency and surveillance result.
Pediatr Int
; 56(4): 462-6, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24980921
8.
HORMAD2 is essential for synapsis surveillance during meiotic prophase via the recruitment of ATR activity.
Genes Cells
; 17(11): 897-912, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23039116
9.
HORMAD1-dependent checkpoint/surveillance mechanism eliminates asynaptic oocytes.
Genes Cells
; 17(6): 439-54, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22530760
10.
Polymorphisms of the 22q11.2 breakpoint region influence the frequency of de novo constitutional t(11;22)s in sperm.
Hum Mol Genet
; 19(13): 2630-7, 2010 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20392709
11.
Mutations of the SYCP3 gene in women with recurrent pregnancy loss.
Am J Hum Genet
; 84(1): 14-20, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19110213
12.
FAK-mediated extracellular signals are essential for interkinetic nuclear migration and planar divisions in the neuroepithelium.
J Cell Sci
; 123(Pt 3): 484-96, 2010 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20067997
13.
Zebrafish Dmrta2 regulates neurogenesis in the telencephalon.
Genes Cells
; 16(11): 1097-109, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22023386
14.
Screening of genes involved in chromosome segregation during meiosis I: in vitro gene transfer to mouse fetal oocytes.
J Hum Genet
; 57(8): 515-22, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22648182
15.
Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA: A case report.
JIMD Rep
; 63(6): 575-580, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36341163
16.
Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells.
Hum Mol Genet
; 18(18): 3397-406, 2009 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19520744
17.
Characterization of a novel mouse gene encoding an SYCP3-like protein that relocalizes from the XY body to the nucleolus during prophase of male meiosis I.
Biol Reprod
; 85(1): 165-71, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21451147
18.
Screening of genes involved in chromosome segregation during meiosis I: toward the identification of genes responsible for infertility in humans.
J Hum Genet
; 55(5): 293-9, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20339383
19.
Molecular analysis of low-level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti.
Mol Genet Genomic Med
; 8(12): e1531, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33085210
20.
Recent advance in our understanding of the molecular nature of chromosomal abnormalities.
J Hum Genet
; 54(5): 253-60, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19373258