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.
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Prenat Diagn
; 43(6): 734-745, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36914926
3.
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
Prenat Diagn
; 42(1): 118-135, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34894355
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.
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
Prenat Diagn
; 39(11): 986-992, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273809
6.
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
7.
Novel CDK10 variants with multicystic dysplastic kidney, left ventricular non-compaction, and a solitary median maxillary central incisor.
Clin Genet
; 100(3): 348-349, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34114225
8.
Impact of prenatal diagnosis on the outcome of patients with a transposition of great arteries: A 24-year population-based study.
Birth Defects Res A Clin Mol Teratol
; 106(3): 178-84, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26690971
9.
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
10.
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
11.
Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome.
Am J Med Genet A
; 167A(1): 250-3, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25425496
12.
Prenatal diagnosis of the VACTERL association using routine ultrasound examination.
Birth Defects Res A Clin Mol Teratol
; 103(10): 880-6, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26033534
13.
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
14.
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
15.
Prenatal ultrasound findings observed in the Wolf-Hirschhorn syndrome: data from the registry of congenital malformations in Auvergne.
Birth Defects Res A Clin Mol Teratol
; 97(12): 806-11, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24343879
16.
Optical Genome Mapping in Routine Cytogenetic Diagnosis of Acute Leukemia.
Cancers (Basel)
; 15(7)2023 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37046792
17.
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
18.
Optical genome mapping for prenatal diagnosis: A prospective study.
Clin Chim Acta
; 551: 117594, 2023 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37832906
19.
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
20.
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