Detalles de la búsqueda
1.
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.
Am J Hum Genet
; 108(7): 1231-1238, 2021 07 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34089648
2.
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
Am J Med Genet A
; 191(4): 930-940, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36651673
3.
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Genet Med
; 24(7): 1567-1582, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35482014
4.
Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I.
Mol Genet Metab
; 135(2): 122-132, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35012890
5.
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.
Am J Med Genet A
; 188(6): 1915-1927, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35266292
6.
Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(10): 1807-1817, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34140662
7.
Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results.
Am J Hematol
; 96(9): 1156-1165, 2021 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34161616
8.
Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study.
Mol Genet Metab
; 131(1-2): 219-228, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33012654
9.
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
N Engl J Med
; 375(6): 545-55, 2016 Aug 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27509102
10.
Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.
Mol Genet Metab
; 127(1): 86-94, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30987917
11.
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Am J Med Genet A
; 179(9): 1725-1744, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31222966
12.
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.
Am J Med Genet A
; 179(6): 1091-1097, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30908877
13.
Novel heterozygous mutation in the PTEN gene associated with ovarian germ cell tumor complicated by growing teratoma syndrome and overgrowth in a two-year-old female.
Pediatr Blood Cancer
; 66(8): e27788, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31038288
14.
Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey.
Blood Cells Mol Dis
; 68: 226-231, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-27839985
15.
Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome.
Am J Med Genet A
; 176(8): 1778-1783, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30055036
16.
Proceedings of the fifth international RASopathies symposium: When development and cancer intersect.
Am J Med Genet A
; 176(12): 2924-2929, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30302932
17.
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
J Med Genet
; 54(4): 288-296, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-27834756
18.
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Genet Med
; 24(10): 2207, 2022 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-36205747
19.
Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial.
Am J Hematol
; 92(11): 1170-1176, 2017 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-28762527
20.
Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase.
Mol Genet Metab
; 117(2): 164-71, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26043810