Detalhe da pesquisa
1.
Retrospective study 2005-2015 of all cases of fetal death occurred at ≥23 gestational weeks, in Friuli Venezia Giulia, Italy.
BMC Pregnancy Childbirth
; 20(1): 384, 2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32611322
2.
Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4.
J Hum Genet
; 64(11): 1075-1081, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31506564
3.
De novo unbalanced translocations have a complex history/aetiology.
Hum Genet
; 137(10): 817-829, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30276538
4.
Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.
Int J Mol Sci
; 19(4)2018 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29642415
5.
Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature.
Am J Med Genet A
; 173(7): 1970-1974, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28411391
6.
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.
Genet Med
; 17(5): 396-9, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25232855
7.
Glioma-associated stem cells: a novel class of tumor-supporting cells able to predict prognosis of human low-grade gliomas.
Stem Cells
; 32(5): 1239-53, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24375787
8.
Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.
Am J Med Genet A
; 164A(1): 170-6, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24307393
9.
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome.
Am J Med Genet A
; 164A(7): 1666-76, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24700646
10.
De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features.
Am J Med Genet A
; 158A(4): 882-7, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22407795
11.
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus.
J Med Genet
; 47(6): 429-32, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19843502
12.
A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome.
J Ultrasound Med
; 35(6): 1359-61, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27235459
13.
An online tool for fetal fraction prediction based on direct size distribution analysis of maternal cell-free DNA.
Biotechniques
; 70(2): 81-88, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33249919
14.
Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism.
Eur J Med Genet
; 63(2): 103639, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30858057
15.
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.
Mol Genet Genomic Med
; 8(1): e1056, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31851782
16.
Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis.
Mol Genet Genomic Med
; 7(3): e546, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30628197
17.
On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.
Am J Med Genet C Semin Med Genet
; 148C(4): 257-69, 2008 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18932124
18.
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.
J Med Genet
; 44(1): e60, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17209130
19.
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.
Front Genet
; 9: 681, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30622556
20.
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.
Eur J Hum Genet
; 26(1): 85-93, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29184170