Detalhe da pesquisa
1.
Reduced telomere length in amniocytes: an early biomarker of abnormal fetal development?
Hum Mol Genet
; 31(16): 2669-2677, 2022 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35244708
2.
3q29 duplications: A cohort of 46 patients and a literature review.
Am J Med Genet A
; : e63531, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421086
3.
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.
J Med Genet
; 60(6): 620-626, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36368868
4.
Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cells.
Chromosoma
; 127(2): 247-259, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29238858
5.
Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage.
Reprod Biomed Online
; 37(1): 100-106, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29680196
6.
A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation.
Birth Defects Res A Clin Mol Teratol
; 106(9): 793-7, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27346851
7.
Feasibility of Optical Genome Mapping from Placental and Umbilical Cord Sampled after Spontaneous or Therapeutic Pregnancy Termination.
Diagnostics (Basel)
; 13(23)2023 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38066817
8.
Optical genome mapping for prenatal diagnosis: A prospective study.
Clin Chim Acta
; 551: 117594, 2023 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37832906
9.
Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.
Andrology
; 10(8): 1625-1631, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36026611
10.
Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype.
Eur J Med Genet
; 64(9): 104287, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34252586
11.
Idiopathic central precocious puberty in a Klinefelter patient: highlights on gonadotropin levels and pathophysiology.
Basic Clin Androl
; 30(1): 19, 2020 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33292161