Detalhe da pesquisa
1.
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Hum Genet
; 2024 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38787418
2.
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder.
Genet Med
; 25(8): 100871, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37120726
3.
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Am J Med Genet A
; 188(10): 2958-2968, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904974
4.
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.
Hum Mutat
; 40(6): 721-728, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30825388
5.
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
Hum Mutat
; 38(4): 451-459, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28074573
6.
Nomenclature and definition in asymmetric regional body overgrowth.
Am J Med Genet A
; 173(7): 1735-1738, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28475229
7.
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications.
Cytogenet Genome Res
; 147(1): 10-6, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26658296
8.
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.
Genet Med
; 17(5): 396-9, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25232855
9.
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
PLoS Genet
; 7(11): e1002334, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22102821
10.
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.
HGG Adv
; 5(3): 100289, 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38571311
11.
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.
Am J Hum Genet
; 87(2): 250-7, 2010 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-20619386
12.
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return.
Eur J Hum Genet
; 31(12): 1430-1439, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37673932
13.
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
Hum Mutat
; 32(7): 760-72, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21387466
14.
Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study.
Birth Defects Res
; 112(10): 725-731, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32558384
15.
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
Hum Mutat
; 30(4): 695-702, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19206169
16.
Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.
Data Brief
; 16: 649-654, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29541661
17.
Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.
Int J Cardiol
; 245: 92-98, 2017 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28768581
18.
ECG in noonan syndrome: beyond the "normal abnormalities".
Minerva Cardioangiol
; 67(3): 256-257, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30895763
19.
Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply.
Eur J Hum Genet
; 26(4): 471-472, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29449718
20.
Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.
Ital J Pediatr
; 35(1): 9, 2009 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-19490664