Detalhe da pesquisa
1.
Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences.
J Med Genet
; 60(6): 547-556, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36150828
2.
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
Genet Med
; 22(10): 1633-1641, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32576985
3.
Chromosomal microarray analysis on uncultured chorionic villus sampling can be complicated by confined placental mosaicism for aneuploidy and microdeletions.
Prenat Diagn
; 38(11): 858-865, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30094853
4.
Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory.
Am J Obstet Gynecol
; 217(6): 691.e1-691.e6, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29032050
5.
Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types.
Genet Med
; 18(5): 513-21, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26402642
6.
Impact of heterozygote CFTR mutations in COPD patients with chronic bronchitis.
Respir Res
; 15: 18, 2014 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-24517344
7.
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.
Hum Mol Genet
; 18(12): 2188-203, 2009 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19324899
8.
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.
NPJ Genom Med
; 6(1): 104, 2021 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34876591
9.
Comprehensive 5-year study of cytogenetic aberrations in 668 infertile men.
J Urol
; 183(4): 1636-42, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20172548
10.
Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Nat Med
; 25(4): 701-702, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30787481
11.
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Nat Med
; 25(3): 439-447, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30692697
12.
Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay.
Am J Med Genet A
; 155A(10): 2589-92, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21910221
13.
Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement.
Mol Cytogenet
; 1: 16, 2008 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-18655707