Detalhe da pesquisa
1.
Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes.
J Hum Genet
; 67(6): 363-368, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35027654
2.
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
3.
Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report.
BMC Pediatr
; 22(1): 378, 2022 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35768795
4.
Identification of a Novel Mutation in Carboxyl Ester Lipase Gene in a Patient with MODY-like Diabetes.
Tohoku J Exp Med
; 256(1): 37-41, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35082198
5.
An Infant Case of Streptococcus Pneumoniae-Associated Thrombotic Microangiopathy with Heterozygous CFI Mutation and CFHR3-CFHR1 Deletion.
Tohoku J Exp Med
; 258(3): 183-193, 2022 Oct 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36070894
6.
Usefulness of combined NGS and QF-PCR analysis for product of conception karyotyping.
Reprod Med Biol
; 21(1): e12449, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35386384
7.
Impact of DPYD, DPYS, and UPB1 gene variations on severe drug-related toxicity in patients with cancer.
Cancer Sci
; 111(9): 3359-3366, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32619063
8.
The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications.
Hum Genet
; 139(11): 1417-1427, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32488466
9.
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
10.
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
11.
An aggressive systemic mastocytosis preceded by ovarian dysgerminoma.
BMC Cancer
; 20(1): 1162, 2020 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33246418
12.
DNA methylation accumulation in gastric mucosa adjacent to cancer after Helicobacter pylori eradication.
Int J Cancer
; 144(1): 80-88, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29978464
13.
Obstetric complication-associated ANXA5 promoter polymorphisms may affect gene expression via DNA secondary structures.
J Hum Genet
; 64(5): 459-466, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30796324
14.
Preimplantation genetic testing for aneuploidy: a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure.
Hum Reprod
; 34(12): 2340-2348, 2019 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31811307
15.
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
16.
Lethal persistent pulmonary hypertension of the newborn in Bohring-Opitz syndrome.
Am J Med Genet A
; 176(5): 1245-1248, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29681105
17.
Prenatal diagnosis of premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome.
J Obstet Gynaecol Res
; 44(7): 1313-1317, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29673003
18.
Genomic Characterization of Chromosomal Insertions: Insights into the Mechanisms Underlying Chromothripsis.
Cytogenet Genome Res
; 153(1): 1-9, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29073611
19.
Preimplantation genetic diagnosis/screening by comprehensive molecular testing.
Reprod Med Biol
; 15(1): 13-19, 2016 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29259418
20.
Intragenic duplication in the PKHD1 gene in autosomal recessive polycystic kidney disease.
BMC Med Genet
; 16: 98, 2015 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-26502924