Detalhe da pesquisa
1.
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene.
Genet Med
; 26(3): 101041, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054406
2.
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Brain
; 146(2): 534-548, 2023 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35979925
3.
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
J Med Genet
; 60(2): 163-173, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35256403
4.
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.
Genes Chromosomes Cancer
; 62(12): 703-709, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37395289
5.
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Am J Med Genet A
; 191(7): 1900-1910, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183572
6.
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
J Med Genet
; 59(2): 170-179, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33323470
7.
Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome.
Genes Chromosomes Cancer
; 61(12): 740-746, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35999193
8.
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies.
Genes Chromosomes Cancer
; 61(11): 689-695, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35778969
9.
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.
Genes Chromosomes Cancer
; 61(1): 10-21, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34427956
10.
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway.
Am J Med Genet C Semin Med Genet
; 190(4): 520-529, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36461154
11.
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.
Clin Genet
; 102(4): 314-323, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35842840
12.
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Am J Med Genet A
; 188(12): 3492-3504, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36135330
13.
Epilepsy in a cohort of children with Noonan syndrome and related disorders.
Eur J Pediatr
; 181(8): 2919-2926, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35575813
14.
Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing.
J Med Genet
; 58(12): 842-849, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33115931
15.
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.
Proc Natl Acad Sci U S A
; 121(12): e2317601121, 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38466850
16.
Evolution over Time of Leg Length Discrepancy in Patients with Syndromic and Isolated Lateralized Overgrowth.
J Pediatr
; 234: 123-127, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33465347
17.
Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum.
Clin Genet
; 100(5): 624-627, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34402524
18.
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth.
Clin Genet
; 99(5): 719-723, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33506498
19.
Chronic subdural hematoma: A previously unreported life-threatening complication in adult with Sotos syndrome.
Am J Med Genet A
; 182(12): 3052-3055, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33052010
20.
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