Detalhe da pesquisa
1.
Consensus-Based Best Practice Guidelines for the Management of Spinal Deformity and Associated Tumors in Pediatric Neurofibromatosis Type 1: Screening and Surveillance, Surgical Intervention, and Medical Therapy.
J Pediatr Orthop
; 43(7): e531-e537, 2023 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37253707
2.
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Genet Med
; 24(9): 1967-1977, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35674741
3.
Caregivers of individuals with Rubinstein-Taybi syndrome: Perspectives, experiences, and relationships with medical professionals.
J Genet Couns
; 31(1): 153-163, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34218493
4.
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
Genet Med
; 23(8): 1506-1513, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34012067
5.
Are Some Randomized Clinical Trials Impossible?
J Pediatr Orthop
; 41(1): e90-e93, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32852366
6.
Neurofibromatosis Type 2 (NF2) and the Implications for Vestibular Schwannoma and Meningioma Pathogenesis.
Int J Mol Sci
; 22(2)2021 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33445724
7.
The Use of MEK Inhibitors in Neurofibromatosis Type 1-Associated Tumors and Management of Toxicities.
Oncologist
; 25(7): e1109-e1116, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32272491
8.
Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1.
Genet Med
; 22(5): 889-897, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32015538
9.
Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly.
Hum Mol Genet
; 26(24): 4836-4848, 2017 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29036432
10.
Activity of Selumetinib in Neurofibromatosis Type 1-Related Plexiform Neurofibromas.
N Engl J Med
; 375(26): 2550-2560, 2016 12 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-28029918
11.
Substantial pain burden in frequency, intensity, interference and chronicity among children and adults with neurofibromatosis Type 1.
Am J Med Genet A
; 179(4): 602-607, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30737893
12.
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
Am J Hum Genet
; 94(5): 734-44, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24726473
13.
Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1.
Am J Med Genet A
; 173(3): 647-653, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862945
14.
The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1.
J Pediatr
; 167(4): 851-856.e1, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26233602
15.
A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.
Am J Med Genet A
; 164A(10): 2607-12, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25091507
16.
CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.
Am J Med Genet A
; 164A(3): 563-78, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24443315
17.
Sirolimus for non-progressive NF1-associated plexiform neurofibromas: an NF clinical trials consortium phase II study.
Pediatr Blood Cancer
; 61(6): 982-6, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24851266
18.
Fractures in children with neurofibromatosis type 1 from two NF clinics.
Am J Med Genet A
; 161A(5): 921-6, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23529831
19.
Approaches to treating NF1 tibial pseudarthrosis: consensus from the Children's Tumor Foundation NF1 Bone Abnormalities Consortium.
J Pediatr Orthop
; 33(3): 269-75, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23482262
20.
Motor Function and Physiology in Youth With Neurofibromatosis Type 1.
Pediatr Neurol
; 143: 34-43, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36996759