Detalhe da pesquisa
1.
Personal journeys to and in human genetics and dysmorphology.
Am J Med Genet A
; 194(6): e63514, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38329159
2.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 104(2): 319-330, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30639322
3.
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
4.
Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII.
Mol Genet Metab
; 136(1): 28-37, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35331634
5.
Growth in individuals with attenuated mucopolysaccharidosis type I during untreated and treated periods: Data from the MPS I registry.
Am J Med Genet A
; 188(10): 2941-2951, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35869927
6.
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
7.
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
Genet Med
; 23(6): 1050-1057, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495529
8.
Visual outcomes following everolimus targeted therapy for neurofibromatosis type 1-associated optic pathway gliomas in children.
Pediatr Blood Cancer
; 68(4): e28833, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33336845
9.
Multiple Intraspinal Gangliogliomas in a Child With Neurofibromatosis Type 1: Case Report and Literature Review.
J Pediatr Hematol Oncol
; 43(7): e979-e982, 2021 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33448717
10.
Are Some Randomized Clinical Trials Impossible?
J Pediatr Orthop
; 41(1): e90-e93, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32852366
11.
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
12.
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.
Clin Genet
; 96(4): 281-289, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31194252
13.
Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry.
Am J Med Genet A
; 179(12): 2425-2432, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31639289
14.
Identification and characterization of a missense mutation in the O-linked ß-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability.
J Biol Chem
; 292(21): 8948-8963, 2017 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28302723
15.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 106(1): 137, 2020 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31879022
16.
Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.
Am J Med Genet A
; 176(4): 945-950, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29575629
17.
2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis.
Am J Med Genet A
; 176(5): 1258-1269, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29681099
18.
Racial/ethnic disparities and incidence of malignant peripheral nerve sheath tumors: results from the Surveillance, Epidemiology, and End Results Program, 2000-2014.
J Neurooncol
; 139(1): 69-75, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29663170
19.
Molecular characterization of metachronous atypical teratoid rhabdoid tumors occurring in a young man 15 years apart.
Pediatr Blood Cancer
; 70(1): e29836, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35678633
20.
Quantitative Ultrasound and Tibial Dysplasia in Neurofibromatosis Type 1.
J Clin Densitom
; 21(2): 179-184, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-28438404