Detalhe da pesquisa
1.
Genetics and clinics: together to diagnose cardiomyopathies.
Eur Heart J Suppl
; 24(Suppl I): I9-I15, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36380800
2.
Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23.
Eur Heart J
; 42(20): 2000-2011, 2021 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33677556
3.
Myths to debunk: the non-compacted myocardium.
Eur Heart J Suppl
; 22(Suppl L): L6-L10, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33654460
4.
Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.
Stroke
; 47(7): 1702-9, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27245348
5.
Atlas of the clinical genetics of human dilated cardiomyopathy.
Eur Heart J
; 36(18): 1123-35a, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25163546
6.
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Am J Hum Genet
; 91(5): 950-7, 2012 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23103230
7.
Hereditary muscle diseases and the heart: the cardiologist's perspective.
Eur Heart J Suppl
; 22(Suppl E): E13-E19, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32523431
8.
Glomuvenous malformations with smooth muscle and eccrine glands: unusual histopathologic features in a familial setting.
J Cutan Pathol
; 41(3): 308-15, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24345188
9.
Genetics and clinics: current applications, limitations, and future developments.
Eur Heart J Suppl
; 21(Suppl B): B7-B14, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30948934
10.
Prevalence and Complications of Aberrant Subclavian Artery in Patients With Heritable and Nonheritable Arteriopathies.
J Am Coll Cardiol
; 81(10): 979-991, 2023 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36889877
11.
Impediments to Heart Transplantation in Adults With MELASMT-TL1:m.3243A>G Cardiomyopathy.
J Am Coll Cardiol
; 80(15): 1431-1443, 2022 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36202533
12.
Pathologic Findings at Risk Reducing Surgery in BRCA and Non-BRCA Mutation Carriers: A Single-Center Experience.
Diagnostics (Basel)
; 12(12)2022 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36553061
13.
A novel mutation of the glomulin gene in an Italian family with autosomal dominant cutaneous glomuvenous malformations.
Exp Dermatol
; 20(12): 1032-4, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22092580
14.
Clinical heterogeneity and reduced penetrance in DICER1 syndrome: a report of three families.
Tumori
; 107(6): NP144-NP148, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34761719
15.
Rare exon 10 deletion in POLH gene in a family with xeroderma pigmentosum variant correlating with protein expression by immunohistochemistry.
G Ital Dermatol Venereol
; 155(3): 349-354, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32635709
16.
Management of the axilla in patients with breast cancer and positive sentinel lymph node biopsy: An evidence-based update in a European breast center.
Eur J Surg Oncol
; 46(1): 15-23, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31445768
17.
The shortness of Pygmies is associated with severe under-expression of the growth hormone receptor.
Mol Genet Metab
; 98(3): 310-3, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19541519
18.
Cardiac Phenotypes in Hereditary Muscle Disorders: JACC State-of-the-Art Review.
J Am Coll Cardiol
; 72(20): 2485-2506, 2018 11 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-30442292
19.
Genetic counselling and high-penetrance susceptibility gene analysis reveal the novel CDKN2A p.D84V (c.251A>T) mutation in melanoma-prone families from Italy.
Melanoma Res
; 27(2): 97-103, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28060055
20.
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.
Eur J Hum Genet
; 14(1): 34-8, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16251899