Detalhe da pesquisa
1.
Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin Hamartoma.
Int J Mol Sci
; 19(10)2018 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-30332768
2.
Remission of eczema and recovery of Th1 polarization following treatment with Dupilumab in STAT3 hyper IgE syndrome.
Pediatr Allergy Immunol
; 33(4): e13770, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35470938
3.
MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting.
BMC Med Genet
; 14: 79, 2013 Aug 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23914933
4.
Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome.
Genes (Basel)
; 14(2)2023 01 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833222
5.
Diagnostic yield and predictive value on left ventricular remodelling of genetic testing in dilated cardiomyopathy.
ESC Heart Fail
; 10(4): 2745-2750, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37282787
6.
Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome.
Eur J Immunol
; 41(4): 1120-31, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21400500
7.
Wild-type FOXP3 is selectively active in CD4+CD25(hi) regulatory T cells of healthy female carriers of different FOXP3 mutations.
Blood
; 114(19): 4138-41, 2009 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-19738030
8.
The -413C > G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype.
Mol Cell Probes
; 24(2): 107-9, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19836446
9.
qPCR Applications for the Determination of the Biological Age.
Methods Mol Biol
; 2065: 191-197, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31578696
10.
A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.
J Mol Diagn
; 10(3): 272-5, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18403614
11.
Forkhead box protein 3 (FOXP3) mutations lead to increased TH17 cell numbers and regulatory T-cell instability.
J Allergy Clin Immunol
; 128(6): 1376-1379.e1, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22000569
12.
FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother.
Am J Med Genet A
; 155A(1): 221-4, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21204236
13.
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.
Int J Mol Med
; 38(4): 1111-24, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27600940
14.
No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy.
Epilepsy Res
; 53(3): 196-200, 2003 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-12694927
15.
Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity.
Epileptic Disord
; 5(1): 21-5, 2003 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-12773292
16.
Significance of sarcomere gene mutations analysis in the end-stage phase of hypertrophic cardiomyopathy.
Am J Cardiol
; 114(5): 769-76, 2014 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25037680
17.
Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene.
Am J Med Genet A
; 146A(23): 3095-9, 2008 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19006215
18.
Deletion of NSD1 exon 14 in Sotos syndrome: first description.
J Genet
; 90(1): 119-23, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21677396
19.
Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome.
J Genet
; 90(1): 147-50, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21677402
20.
Perlman syndrome: clinical report and nine-year follow-up.
Am J Med Genet A
; 139A(2): 131-5, 2005 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16278893