Detalhe da pesquisa
1.
A new MAPT deletion in a case of speech apraxia leading to corticobasal syndrome.
Neurocase
; 24(3): 140-144, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29969053
2.
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
3.
Prevalence and characteristics of thelarche variant.
Front Endocrinol (Lausanne)
; 14: 1303989, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38107513
4.
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
5.
A Validated HPLC-Diode Array Detection Method for Therapeutic Drug Monitoring of Thiopurines in Pediatric Patients: From Bench to Bedside.
Metabolites
; 12(12)2022 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36557210
6.
Molecular epidemiology of Usher syndrome in Italy.
Mol Vis
; 17: 1662-8, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21738395
7.
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
8.
Detection of epidermal thickening in GJB2 carriers with epidermal US.
Radiology
; 251(1): 280-6, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19190252
9.
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
10.
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
11.
CTNND2 deletion and intellectual disability.
Gene
; 565(1): 146-9, 2015 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25839933
12.
Severe inflammatory bowel disease associated with congenital alteration of transforming growth factor beta signaling.
J Crohns Colitis
; 8(8): 770-4, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24486179
13.
Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12.
Gene
; 492(1): 315-8, 2012 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22062632
14.
Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.
PLoS One
; 7(8): e43799, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22952768
15.
Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report.
J Med Case Rep
; 5: 222, 2011 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-21689463
16.
A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation.
Ophthalmic Genet
; 31(2): 98-100, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20450314
17.
Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.
Eur J Med Genet
; 53(5): 322-4, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20673819
18.
Ophthalmic features in a dysmorphic boy with chromosome 4q deletion and duplication.
Ophthalmic Genet
; 30(2): 103-5, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19373683
19.
A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature.
J Appl Genet
; 52(1): 77-80, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21107783
20.
Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?
Eur J Hum Genet
; 17(3): 284-6, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19050724