Detalhe da pesquisa
1.
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations.
Genome Res
; 32(7): 1242-1253, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35710300
2.
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
3.
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.
Am J Med Genet A
; 185(4): 1204-1210, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33442900
4.
Tremor is a major feature of 9p13 deletion syndrome.
Am J Med Genet A
; 182(11): 2694-2698, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32896075
5.
First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.
Am J Med Genet A
; 173(1): 231-238, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27683195
6.
Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus.
Am J Hum Genet
; 91(4): 629-35, 2012 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23022097
7.
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?
BMC Med Genet
; 16: 20, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25927938
8.
Oct-1 recruitment to the nuclear envelope in adult-onset autosomal dominant leukodystrophy.
Biochim Biophys Acta
; 1832(3): 411-20, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23261988
9.
Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations.
J Matern Fetal Neonatal Med
; 37(1): 2344718, 2024 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38679587
10.
Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype.
Bone Rep
; 19: 101728, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38076483
11.
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.
Cell Death Dis
; 13(11): 981, 2022 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36411275
12.
Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies.
Reprod Sci
; 28(4): 1142-1149, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33409881
13.
Premature ovarian failure, absence of pubic and axillary hair with de novo 46,X,t(X;15)(q24;q26.3).
Am J Med Genet A
; 152A(5): 1305-9, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20425841
14.
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
15.
A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7.
Electrophoresis
; 30(11): 2008-11, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19517448
16.
De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly.
Am J Med Genet A
; 161A(3): 632-6, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23401394
17.
Identification of i(X)(p10) as the sole molecular abnormality in atypical chronic myeloid leukemia evolved into acute myeloid leukemia.
Mol Clin Oncol
; 8(3): 463-465, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29468060
18.
Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature.
Eur J Med Genet
; 61(3): 173-180, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29174090
19.
Multicentre registry of brain-injured patients with disorder of consciousness: rationale and preliminary data.
Funct Neurol
; 33(1): 19-30, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29633693
20.
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype.
J Clin Endocrinol Metab
; 92(11): 4467-71, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17848409