Detalhe da pesquisa
1.
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Hum Mol Genet
; 32(6): 917-933, 2023 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36190515
2.
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
Mol Genet Metab
; 140(3): 107668, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37549443
3.
An LMNA synonymous variant associated with severe dilated cardiomyopathy: Case report.
Am J Med Genet A
; 188(2): 600-605, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34652067
4.
Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(5): 799-812, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33795824
5.
Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly.
Hum Mol Genet
; 26(4): 702-716, 2017 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28040730
6.
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
J Inherit Metab Dis
; 42(2): 353-361, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30043187
7.
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine ß-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial.
J Inherit Metab Dis
; 42(3): 424-437, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30873612
8.
Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 20(12): 1489-1498, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30297698
9.
Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Genet Med
; 20(9): 1098, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300369
10.
Further delineation of achondroplasia-hypochondroplasia complex with long-term survival.
Am J Med Genet A
; 176(5): 1225-1231, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29681095
11.
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Genet Med
; 19(1): 104-111, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27362913
12.
d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence.
Mol Genet Metab
; 121(2): 80-82, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28462797
13.
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
Am J Med Genet A
; 173(4): 1097-1101, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28181399
14.
The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
Mol Genet Metab
; 119(1-2): 50-6, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27397597
15.
Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia.
J Pediatr
; 170: 234-9, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26749113
16.
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
Ann Neurol
; 78(4): 606-18, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26179960
17.
Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series.
Cerebellum
; 15(5): 623-31, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27372099
18.
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Genet Med
; 17(5): 405-24, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25741868
19.
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Brain
; 137(Pt 2): 366-79, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24334290
20.
ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.
Genet Med
; 15(7): 575-86, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23765048