Detalhe da pesquisa
1.
Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia.
Am J Hum Genet
; 104(5): 936-947, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982608
2.
Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth.
Genet Med
; 24(11): 2318-2328, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36066547
3.
Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations.
Genet Med
; 23(1): 123-130, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32884133
4.
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Brain
; 143(10): 2929-2944, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32979048
5.
Minimal mosaicism, maximal phenotype: Discordance between clinical and molecular findings in two patients with tuberous sclerosis.
Am J Med Genet C Semin Med Genet
; 178(3): 374-378, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30260069
6.
Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients.
Am J Med Genet A
; 176(11): 2301-2308, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30063105
7.
Primary targeted medical therapy for management of bilateral head and neck lymphatic malformations in infants.
Int J Pediatr Otorhinolaryngol
; 164: 111371, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36459725
8.
Somatic activating BRAF variants cause isolated lymphatic malformations.
HGG Adv
; 3(2): 100101, 2022 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35373151
9.
Acetylsalicylic acid suppression of the PI3K pathway as a novel medical therapy for head and neck lymphatic malformations.
Int J Pediatr Otorhinolaryngol
; 151: 110869, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34537546
10.
Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations.
JCI Insight
; 4(21)2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31536475
11.
Upregulated MicroRNA-21 Drives the Proliferation of Lymphatic Malformation Endothelial Cells by Inhibiting PDCD4.
J Invest Dermatol
; 143(10): 2085-2089.e1, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37088278