Detalhe da pesquisa
1.
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Cell
; 146(6): 889-903, 2011 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-21925314
2.
Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation.
Mol Genet Metab
; 142(4): 108513, 2024 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38917675
3.
Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors.
Am J Med Genet A
; 194(3): e63461, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37953071
4.
Intracranial calcifications simulating Aicardi-Goutières syndrome in PARS2-related mitochondrial disease.
Am J Med Genet A
; 194(7): e63589, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38469956
5.
Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report.
BMC Neurol
; 24(1): 87, 2024 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38438854
6.
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.
Genet Med
; 25(4): 100352, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36473599
7.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100314, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36305855
8.
Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency.
Am J Med Genet A
; 191(5): 1366-1372, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36751706
9.
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy.
Am J Med Genet A
; 191(3): 776-785, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36537114
10.
Mitochondrial DNA maintenance defects: potential therapeutic strategies.
Mol Genet Metab
; 137(1-2): 40-48, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35914366
11.
NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction.
Mol Genet Metab
; 136(2): 101-110, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35637064
12.
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).
Mol Genet Metab
; 136(2): 125-131, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35606253
13.
Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia.
Am J Med Genet A
; 188(9): 2718-2723, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35796094
14.
A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.
Am J Med Genet A
; 188(1): 259-268, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34510712
15.
TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.
Mol Genet Metab
; 132(2): 146-153, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33485800
16.
Expansion of the clinical phenotype of GALE deficiency.
Am J Med Genet A
; 185(10): 3118-3121, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34159722
17.
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
Am J Hum Genet
; 101(5): 833-843, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100093
18.
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.
Am J Hum Genet
; 100(1): 91-104, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27939640
19.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Am J Hum Genet
; 100(2): 343-351, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132692
20.
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.
Genet Med
; 22(6): 1102-1107, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32103184