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.
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
3.
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
4.
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
5.
Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal Karyotype.
Cytogenet Genome Res
; 146(1): 28-32, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26201711
6.
Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies.
Prenat Diagn
; 35(8): 801-9, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25962607
7.
De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate.
Birth Defects Res A Clin Mol Teratol
; 100(6): 507-11, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24753315
8.
A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome.
Am J Med Genet A
; 161A(1): 162-5, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23239647
9.
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
10.
Optical genome mapping for prenatal diagnosis: A prospective study.
Clin Chim Acta
; 551: 117594, 2023 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37832906
11.
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
12.
Prenatal detection of cryptic rearrangements by multiplex ligation probe amplification in fetuses with ultrasound abnormalities.
Genet Med
; 12(6): 376-80, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20453657
13.
Fetal skin fibroblasts: a cell model for studying the retinoid pathway in congenital diaphragmatic hernia.
Birth Defects Res A Clin Mol Teratol
; 88(3): 195-200, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20063272
14.
Retinoid pathway and congenital diaphragmatic hernia: hypothesis from the analysis of chromosomal abnormalities.
Fetal Diagn Ther
; 28(3): 129-39, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20501978
15.
Analysis of the cost effectiveness of different strategies for the antenatal diagnosis of chromosomal aberrations in cases of ultrasound-identified fetal abnormalities.
Ann Biol Clin (Paris)
; 78(5): 483-491, 2020 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32933889
16.
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.
Eur J Hum Genet
; 28(8): 1044-1055, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32071410
17.
Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay.
Am J Med Genet A
; 164A(11): 2964-7, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25124455
18.
Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
NPJ Genom Med
; 4: 16, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31285849
19.
Trisomy 20q caused by interstitial duplication 20q13.2: clinical report and literature review.
Am J Med Genet A
; 146A(10): 1307-11, 2008 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18384146
20.
The occurrence of Brugada syndrome and isolated cardiac conductive disease in the same family could be due to a single SCN5A mutation or to the accidental association of both diseases.
Europace
; 10(1): 79-85, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18156160