Detalhe da pesquisa
1.
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Hum Genet
; 142(6): 785-808, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37079061
2.
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.
Genet Med
; 24(2): 439-453, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906501
3.
Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports.
Clin Exp Rheumatol
; 40 Suppl 134(5): 46-62, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35587586
4.
The added value of a European Reference Network on rare and complex connective tissue and musculoskeletal diseases: insights after the first 5 years of the ERN ReCONNET.
Clin Exp Rheumatol
; 40 Suppl 134(5): 3-11, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35349419
5.
Koolen-de Vries syndrome in the first adulthood patient of Southern India ancestry.
Am J Med Genet A
; 185(3): 978-981, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33314579
6.
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.
Clin Genet
; 97(3): 396-406, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31794058
7.
The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiers.
J Hum Genet
; 64(8): 721-728, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31086247
8.
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Eur Radiol
; 27(12): 5080-5092, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28677066
9.
Discordant cfDNA-NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman.
Prenat Diagn
; 42(8): 1000-1003, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35506546
10.
Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families.
Mov Disord
; 29(12): 1561-6, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25164310
11.
Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigrees.
Mov Disord
; 28(6): 813-7, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23744550
12.
Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.
Mov Disord
; 28(6): 787-94, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23677909
13.
The Language of Pain in the Hypermobile Ehlers-Danlos Syndrome: Metaphors as a Key to Understanding the Experience of Pain and as a Rehabilitation Tool.
Brain Sci
; 13(7)2023 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37508973
14.
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
Eur J Hum Genet
; 31(4): 474-478, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36529819
15.
Long-term outcomes of COVID-19 vaccination in patients with rare and complex connective tissue diseases: The ERN-ReCONNET VACCINATE study.
J Transl Autoimmun
; 7: 100221, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38162456
16.
Independent and joint effects of the MAPT and SNCA genes in Parkinson disease.
Ann Neurol
; 69(5): 778-92, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21391235
17.
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Eur Radiol
; 27(12): 5093, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28900662
18.
Audiological and radiological characteristics of a family with T961G mitochondrial mutation.
Int J Audiol
; 51(12): 870-9, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23013294
19.
Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2?
Genes (Basel)
; 13(12)2022 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36553625
20.
An overlook on the current registries for rare and complex connective tissue diseases and the future scenario of TogethERN ReCONNET.
Front Med (Lausanne)
; 9: 889997, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36226147