Detalhe da pesquisa
1.
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gastroenterology
; 164(4): 579-592.e8, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586540
2.
A chance to cut is a chance to cure: complete resection of an atypical neurofibroma prevents further progression to malignancy.
Childs Nerv Syst
; 39(11): 3301-3304, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37344677
3.
Treatment of Plexiform Neurofibromas with MEK Inhibitors: First Results with a New Therapeutic Option.
Neuropediatrics
; 53(1): 52-60, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34905788
4.
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
J Med Genet
; 57(4): 269-273, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31494577
5.
Clinical characterization of children and adolescents with NF1 microdeletions.
Childs Nerv Syst
; 36(10): 2297-2310, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32533297
6.
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Hum Mutat
; 40(5): 649-655, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740824
7.
Trametinib Induces Neurofibroma Shrinkage and Enables Surgery.
Neuropediatrics
; 50(5): 300-303, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31141829
8.
Correction to: A chance to cut is a chance to cure: complete resection of an atypical neurofibroma prevents further progression to malignancy.
Childs Nerv Syst
; 39(11): 3305, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37515722
9.
A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.
Am J Med Genet A
; 173(10): 2803-2807, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28817236
10.
Nevus Anemicus As an Additional Diagnostic Marker of Neurofibromatosis Type 1 in Childhood.
Neuropediatrics
; 47(3): 190-3, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27019377
11.
Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey.
In Vivo
; 35(3): 1711-1736, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33910856
12.
Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5' untranslated region, exon and intron 1.
Twin Res Hum Genet
; 13(6): 582-94, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21142935
13.
Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots.
Fam Cancer
; 18(3): 353-358, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30680470
14.
No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.
Front Immunol
; 9: 1506, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30013564
15.
"How much brain is really necessary?" A case of complex cerebral malformation and its clinical course.
J Child Neurol
; 22(6): 756-60, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17641265
16.
Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.
Hum Mutat
; 27(10): 1030-40, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16941471
17.
Diagnostic delay of NF1 in hemifacial hypertrophy due to plexiform neurofibromas.
Brain Dev
; 28(5): 275-80, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16481142
18.
Pseudotumor cerebri as an important differential diagnosis of papilledema in children.
Brain Dev
; 28(3): 190-5, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16368210
19.
Childhood overgrowth in patients with common NF1 microdeletions.
Eur J Hum Genet
; 13(7): 883-8, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15856072
20.
Subdural hematoma as clinical presentation of osteogenesis imperfecta.
Pediatr Neurol
; 32(2): 140-2, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15664779