Detalhe da pesquisa
1.
Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies.
Addict Biol
; 26(1): e12880, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32064741
2.
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Hum Mutat
; 41(1): 299-315, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31595648
3.
Correction: Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study.
Genet Med
; 22(1): 242, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31591510
4.
Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study.
Genet Med
; 22(2): 398-406, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31495828
5.
RETINAL VASCULAR ABNORMALITIES IN A LARGE COHORT OF PATIENTS AFFECTED BY NEUROFIBROMATOSIS TYPE 1: A Study Using Optical Coherence Tomography Angiography.
Retina
; 38(3): 585-593, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28248826
6.
Natural history of optic pathway gliomas in a cohort of unselected patients affected by Neurofibromatosis 1.
J Neurooncol
; 134(2): 279-287, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28577031
7.
Catechol-O-Methyltransferase (COMT) Val158Met Polymorphism and Eating Disorders: Data From a New Biobank and Meta-Analysis of Previously Published Studies.
Eur Eat Disord Rev
; 25(6): 524-532, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29057600
8.
Prevalence, characteristics, and survival of children with esophageal atresia: A 32-year population-based study including 1,417,724 consecutive newborns.
Birth Defects Res A Clin Mol Teratol
; 106(7): 542-8, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26931365
9.
Regression of gadolinium-enhanced lesions in patients affected by neurofibromatosis type 1.
Radiol Med
; 121(3): 214-7, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26445946
10.
Pregnancy outcome following maternal exposure to mirtazapine: a multicenter, prospective study.
J Clin Psychopharmacol
; 35(3): 250-9, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25830592
11.
Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay.
Clin Chem Lab Med
; 53(11): 1719-23, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25781545
12.
Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.
Kidney Int
; 85(2): 383-92, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23760289
13.
High-resolution melt as a screening method in autosomal dominant polycystic kidney disease (ADPKD).
J Clin Lab Anal
; 28(4): 328-34, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24658975
14.
Evaluation of tibial osteopathy occurrence in neurofibromatosis type 1 Italian patients.
Am J Med Genet A
; 161A(5): 927-34, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23463485
15.
Catechol-O-methyltransferase genotype modifies executive functioning and prefrontal functional connectivity in women with anorexia nervosa.
J Psychiatry Neurosci
; 38(4): 241-8, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23046831
16.
Teratogenicity of mycophenolate confirmed in a prospective study of the European Network of Teratology Information Services.
Am J Med Genet A
; 158A(3): 588-96, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22319001
17.
Pharmacologic treatment of hyperthyroidism during pregnancy.
Birth Defects Res A Clin Mol Teratol
; 94(8): 612-9, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22511519
18.
Eating-induced epileptic spasms in a boy with MECP2 duplication syndrome: insights into pathogenesis of genetic epilepsies.
Epileptic Disord
; 14(4): 414-7, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23248047
19.
The SHOX gene and the short stature. Roundtable on diagnosis and treatment of short stature due to SHOX haploinsufficiency: how genetics, radiology and anthropometry can help the pediatrician in the diagnostic process Padova (April 20th, 2011).
Pediatr Endocrinol Rev
; 9(4): 727-33, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23304810
20.
Conjoined twins: a worldwide collaborative epidemiological study of the International Clearinghouse for Birth Defects Surveillance and Research.
Am J Med Genet C Semin Med Genet
; 157C(4): 274-87, 2011 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22002822