Detalhe da pesquisa
1.
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
Prenat Diagn
; 42(13): 1575-1586, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36403097
2.
Targeting Mitochondrial Network Architecture in Down Syndrome and Aging.
Int J Mol Sci
; 21(9)2020 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32365535
3.
Metformin restores the mitochondrial network and reverses mitochondrial dysfunction in Down syndrome cells.
Hum Mol Genet
; 26(6): 1056-1069, 2017 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28087733
4.
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition.
Clin Genet
; 96(4): 359-365, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31278746
5.
Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets.
Mol Med
; 24(1): 2, 2018 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30134785
6.
DiGeorge-like syndrome in a child with a 3p12.3 deletion involving MIR4273 gene born to a mother with gestational diabetes mellitus.
Am J Med Genet A
; 173(7): 1913-1918, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28436605
7.
Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome.
Am J Med Genet A
; 173(7): 1896-1902, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28462983
8.
Invasive prenatal diagnosis during COVID-19 pandemic.
Arch Gynecol Obstet
; 305(3): 797-801, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34618213
9.
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.
Am J Med Genet A
; 170(8): 2196-9, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27256967
10.
Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene.
Neurol Sci
; 42(5): 2115-2117, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33201365
11.
Peculiar footprints in a child with agenesis of corpus callosum.
J Paediatr Child Health
; 57(3): 450-451, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33728780
12.
Listen to Your Patients: A Diagnostic Clue.
J Pediatr
; 224: 171, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32442447
13.
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability.
Clin Genet
; 97(6): 940-942, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32349160
14.
Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus.
Haematologica
; 105(12): 2883-2886, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33256393
15.
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
16.
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2.
BMC Med Genet
; 15: 88, 2014 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-25056293
17.
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review.
Am J Med Genet A
; 164A(3): 753-9, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357330
18.
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.
Am J Med Genet A
; 164A(1): 190-3, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24243641
19.
Profilin 1 deficiency drives mitotic defects and reduces genome stability.
Commun Biol
; 6(1): 9, 2023 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36599901
20.
Clinical description of a patient carrying the smallest reported deletion involving 10p14 region.
Am J Med Genet A
; 158A(4): 832-5, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22407589