Detalhe da pesquisa
1.
Functional analysis of three new alpha-thalassemia deletions involving MCS-R2 reveals the presence of an additional enhancer element in the 5' boundary region.
PLoS Genet
; 19(5): e1010727, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37216374
2.
An atypical Aymé-Gripp phenotype detected by exome sequencing.
Am J Med Genet A
; 194(1): 70-76, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37712597
3.
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically.
Int J Mol Sci
; 24(11)2023 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37298193
4.
Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review.
Int J Mol Sci
; 23(16)2022 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36012218
5.
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.
Clin Genet
; 100(5): 563-572, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34346503
6.
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.
Acta Neuropathol
; 142(2): 375-393, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33974137
7.
Enhancing cyst-like lesions of the white matter in tuberous sclerosis complex: a novel neuroradiological finding.
Neuroradiology
; 63(6): 971-974, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33481070
8.
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report.
BMC Neurol
; 20(1): 327, 2020 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32873259
9.
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.
Am J Med Genet A
; 176(3): 722-726, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29283210
10.
Are SHROOM4 loss-of-function variants pathogenic?
Am J Med Genet A
; 188(11): 3374-3375, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36209347
11.
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience.
Am J Med Genet A
; 173(6): 1521-1530, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28422438
12.
Spectrum of muscular dystrophies associated with sarcolemmal-protein genetic defects.
Biochim Biophys Acta
; 1852(4): 585-93, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25086336
13.
A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.
J Neurochem
; 135(6): 1123-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26478990
14.
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.
BMC Med Genet
; 15: 44, 2014 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-24767283
15.
Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2.
Neurol Sci
; 40(7): 1475-1476, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30666475
16.
The complex landscape of DMD mutations: moving towards personalized medicine.
Front Genet
; 15: 1360224, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38596212
17.
Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex.
Hum Mol Genet
; 20(23): 4644-54, 2011 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21890494
18.
Familial trisomy 6p in mother and daughter.
Am J Med Genet A
; 161A(7): 1675-81, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23687068
19.
Identification and molecular characterization of a novel 55-kb deletion recurrent in southern Italy: the Italian (G) γ((A) γδß)°-thalassemia.
Eur J Haematol
; 90(3): 214-9, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23281611
20.
Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations.
Cancers (Basel)
; 15(4)2023 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36831560