Detalhe da pesquisa
1.
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
2.
Role of CTCF protein in regulating FMR1 locus transcription.
PLoS Genet
; 9(7): e1003601, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23874213
3.
Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: a co-morbidity model with additional copy number variations in a large family.
Am J Med Genet A
; 161A(11): 2890-3, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24127197
4.
Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report.
Acta Biomed
; 94(S1): e2023097, 2023 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36883684
5.
FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Nat Commun
; 14(1): 2026, 2023 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37041148
6.
[Clinical and molecular study of the Noonan syndrome]. / Estudio clínico y molecular del síndrome de Noonan.
Invest Clin
; 53(4): 395-401, 2012 Dec.
Artigo
em Espanhol
| MEDLINE | ID: mdl-23513489
7.
Genetic counseling during COVID-19 pandemic: Tuscany experience.
Mol Genet Genomic Med
; 8(10): e1433, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32743952
8.
Immunological Features of Neuroblastoma Amplified Sequence Deficiency: Report of the First Case Identified Through Newborn Screening for Primary Immunodeficiency and Review of the Literature.
Front Immunol
; 10: 1955, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31507590
9.
Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells.
Epigenetics Chromatin
; 9: 12, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27014370
10.
Defining the role of the CGGBP1 protein in FMR1 gene expression.
Eur J Hum Genet
; 24(5): 697-703, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26306647
11.
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
Eur J Hum Genet
; 23(11): 1499-504, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25712080
12.
Estudio clínico y molecular del síndrome de Noonan / Clinical and molecular study of the Noonan syndrome
Invest. clín
; 53(4): 395-401, dic. 2012. ilus
Artigo
em Espanhol
| LILACS | ID: lil-687431