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1.
Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells.
Am J Med Genet A
; 191(4): 1101-1106, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36598152
2.
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy.
Am J Med Genet A
; 185(5): 1509-1514, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33547725
3.
Fetal First-trimester Cystic Hygroma as the Prenatal Presenting Feature of ASCC1-Related Spinal Muscular Atrophy with Bone Fractures 2.
J Obstet Gynaecol Can
; 45(8): 558-559, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37201580
4.
Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis.
Eur J Hum Genet
; 2024 Mar 15.
Article
in English
| MEDLINE | ID: mdl-38486024
5.
Prenatal CFAP53-related laterality defect: case report and review of the literature.
J Matern Fetal Neonatal Med
; 36(1): 2201653, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37041101
6.
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility.
Biomedicines
; 11(7)2023 Jul 22.
Article
in English
| MEDLINE | ID: mdl-37509701
7.
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region.
Genes (Basel)
; 14(12)2023 Nov 29.
Article
in English
| MEDLINE | ID: mdl-38136979
8.
Case Report: Interindividual variability and possible role of heterozygous variants in a family with deficiency of adenosine deaminase 2: are all heterozygous born equals?
Front Immunol
; 14: 1156689, 2023.
Article
in English
| MEDLINE | ID: mdl-37207212
9.
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.
Eur J Hum Genet
; 31(4): 479-484, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36599940
10.
Functional CVIDs phenotype clusters identified by the integration of immune parameters after BNT162b2 boosters.
Front Immunol
; 14: 1194225, 2023.
Article
in English
| MEDLINE | ID: mdl-37304298
11.
Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis.
Diagnostics (Basel)
; 12(3)2022 Feb 23.
Article
in English
| MEDLINE | ID: mdl-35328129
12.
Genomic Breakpoints' Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer.
Diagnostics (Basel)
; 12(7)2022 Jun 22.
Article
in English
| MEDLINE | ID: mdl-35885426
13.
Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis.
Diagnostics (Basel)
; 12(6)2022 May 27.
Article
in English
| MEDLINE | ID: mdl-35741137
14.
A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma-Systematic Review of the Literature, Meta-Analysis and Case Series.
Diagnostics (Basel)
; 13(1)2022 Dec 23.
Article
in English
| MEDLINE | ID: mdl-36611340
15.
Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular Findings.
Front Neurol
; 12: 648588, 2021.
Article
in English
| MEDLINE | ID: mdl-34630269
16.
Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review.
Diagnostics (Basel)
; 11(2)2021 Feb 02.
Article
in English
| MEDLINE | ID: mdl-33540854
17.
Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings.
Eur J Med Genet
; 64(1): 104106, 2021 Jan.
Article
in English
| MEDLINE | ID: mdl-33227434
18.
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations.
Bone
; 144: 115803, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33333243
19.
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation.
Mol Genet Genomic Med
; 8(1): e1054, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31756055
20.
Critical prenatal diagnosis and management of incidental exon 43-44 deletion in the dystrophin gene.
Eur J Obstet Gynecol Reprod Biol
; 272: 251-252, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35437158