Detalhe da pesquisa
1.
Congenital erythropoietic porphyria.
Liver Int
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38717058
2.
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(2): 100336, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36524989
3.
Acute hepatic porphyrias: Recommendations for diagnosis and management with real-world examples.
Mol Genet Metab
; 140(3): 107670, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37542766
4.
Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria.
J Am Acad Dermatol
; 89(6): 1227-1237, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36041558
5.
Prevalence of Undiagnosed Acute Hepatic Porphyria in Cyclic Vomiting Syndrome and Overlap in Clinical Symptoms.
Dig Dis Sci
; 68(5): 2107-2114, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36380150
6.
Integration of a pharmacist-led pharmacogenomic service in a geriatric clinic: Barriers and outcomes.
J Am Pharm Assoc (2003)
; 63(3): 778-784, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36774236
7.
Expanding the phenotypic spectrum of ARCN1-related syndrome.
Genet Med
; 24(6): 1227-1237, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35300924
8.
Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias Consortium.
Hepatology
; 73(5): 1736-1746, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681675
9.
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
Hum Mutat
; 42(4): 445-459, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33565190
10.
Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria.
Genet Med
; 22(3): 590-597, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31690837
11.
Evidence-based consensus guidelines for the diagnosis and management of protoporphyria-related liver dysfunction in erythropoietic protoporphyria and X-linked protoporphyria.
Hepatology
; 79(3): 731-743, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37505211
12.
Congenital erythropoietic porphyria: Recent advances.
Mol Genet Metab
; 128(3): 288-297, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30685241
13.
Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.
J Inherit Metab Dis
; 42(1): 186-194, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740734
14.
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
Am J Hum Genet
; 97(4): 512-20, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26365338
15.
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(8): 100874, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37378664
16.
De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
Am J Med Genet A
; 176(9): 1845-1851, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30055086
17.
Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver.
Mol Med
; 21: 487-95, 2015 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26062020
18.
PNPLA3 Gene Polymorphism Is Associated With Predisposition to and Severity of Alcoholic Liver Disease.
Am J Gastroenterol
; 110(6): 846-56, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25964223
19.
Porphyrias in the Age of Targeted Therapies.
Diagnostics (Basel)
; 11(10)2021 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34679493
20.
Corrigendum: PNPLA3 Gene Polymorphism Is Associated With Predisposition to and Severity of Alcoholic Liver Disease.
Am J Gastroenterol
; 110(7): 1121, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26148270