Detalhe da pesquisa
1.
45,X/46,XY mosaicism: Clinical manifestations and long term follow-up.
Am J Med Genet A
; 194(3): e63451, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37882230
2.
Prenatal and fetal diagnosis of trisomy 18 after low-risk cell-free fetal DNA screening: A report of four cases.
Prenat Diagn
; 43(1): 36-41, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36426655
3.
Genomics of myelodysplastic/myeloproliferative neoplasm.
Semin Diagn Pathol
; 40(3): 195-201, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37105794
4.
Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database.
Clin Genet
; 102(2): 87-97, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35532184
5.
Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(10): 1793-1806, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34285390
6.
Testicular MTHFR deficiency may explain sperm DNA hypomethylation associated with high dose folic acid supplementation.
Hum Mol Genet
; 27(7): 1123-1135, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29360980
7.
Copy number alterations involving 59 ACMG-recommended secondary findings genes.
Clin Genet
; 98(6): 577-588, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33009833
8.
Importance of complete phenotyping in prenatal whole exome sequencing.
Hum Genet
; 137(2): 175-181, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29392406
9.
Unexpected MYC::DMD translocation after transformation of follicular lymphoma with IGH::BCL2 and IGH::MYC.
Br J Haematol
; 203(2): e74-e77, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37485649
10.
Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(6): 100812, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37058144
11.
Chromosomal instability in women with primary ovarian insufficiency.
Hum Reprod
; 33(3): 531-538, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29425284
12.
High-dose folic acid supplementation alters the human sperm methylome and is influenced by the MTHFR C677T polymorphism.
Hum Mol Genet
; 24(22): 6301-13, 2015 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26307085
13.
Intergenerational impact of paternal lifetime exposures to both folic acid deficiency and supplementation on reproductive outcomes and imprinted gene methylation.
Mol Hum Reprod
; 23(7): 461-477, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28535307
14.
Response to Righetti et al.
Genet Med
; 24(5): 1162-1163, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35221206
15.
Correction to: Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(10): 2015, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34453133
16.
Sperm-derived WW domain-binding protein, PAWP, elicits calcium oscillations and oocyte activation in humans and mice.
FASEB J
; 28(10): 4434-40, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24970390
17.
A Novel Integrated Approach for Cytogenomic Evaluation of Plasma Cell Neoplasms.
J Mol Diagn
; 24(10): 1067-1078, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35940519
18.
Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots.
Psychiatr Genet
; 32(5): 171-177, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35837682
19.
Whole-genome sequencing of H3K4me3 and DNA methylation in human sperm reveals regions of overlap linked to fertility and development.
Cell Rep
; 36(3): 109418, 2021 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34289352
20.
Sperm-borne protein, PAWP, initiates zygotic development in Xenopus laevis by eliciting intracellular calcium release.
Mol Reprod Dev
; 77(3): 249-56, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20017143