Detalles de la búsqueda
1.
Novel combined UGT1A1 mutations in Crigler Najjar Syndrome type I.
J Clin Lab Anal
; 36(6): e24482, 2022 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-35527687
2.
Loss of SDHB Induces a Metabolic Switch in the hPheo1 Cell Line toward Enhanced OXPHOS.
Int J Mol Sci
; 23(1)2022 Jan 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35008989
3.
Potential dysfunctional effects of synonymous variants: Insights from an exhaustive in silico analysis of the ABCB4 gene.
Ann Hum Genet
; 82(6): 457-468, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30079523
4.
First description of a novel mitochondrial mutation in the MT-TI gene associated with multiple mitochondrial DNA deletion and depletion in family with severe dilated mitochondrial cardiomyopathy.
Biochem Biophys Res Commun
; 497(4): 1049-1054, 2018 03 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-29481798
5.
A novel TBX1 missense mutation in patients with syndromic congenital heart defects.
Biochem Biophys Res Commun
; 499(3): 563-569, 2018 05 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-29596833
6.
Co segregation of the m.1555A>G mutation in the MT-RNR1 gene and mutations in MT-ATP6 gene in a family with dilated mitochondrial cardiomyopathy and hearing loss: A whole mitochondrial genome screening.
Biochem Biophys Res Commun
; 484(1): 71-78, 2017 02 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-28104394
7.
A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease.
Biochem Cell Biol
; 94(3): 265-9, 2016 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-27248780
8.
Mutational analysis in patients with neuromuscular disorders: Detection of mitochondrial deletion and double mutations in the MT-ATP6 gene.
Biochem Biophys Res Commun
; 473(1): 61-66, 2016 Apr 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-26993169
9.
Mutational screening in patients with profound sensorineural hearing loss and neurodevelopmental delay: Description of a novel m.3861A > C mitochondrial mutation in the MT-ND1 gene.
Biochem Biophys Res Commun
; 474(4): 702-708, 2016 Jun 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-27155156
10.
Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders.
Biochem Biophys Res Commun
; 473(2): 578-85, 2016 Apr 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-27033601
11.
A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with severe nephropathy.
Biochem Biophys Res Commun
; 459(3): 353-60, 2015 Apr 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-25701779
12.
Nuclear and mitochondrial DNA alterations in pheochromocytomas and paragangliomas, and their potential treatment.
Endocr Relat Cancer
; 30(1)2023 01 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36219865
13.
Domain landscapes of somatic NF1 mutations in pheochromocytoma and paraganglioma.
Gene
; 872: 147432, 2023 Jul 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37062455
14.
Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas.
Cancers (Basel)
; 14(2)2022 Jan 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35053433
15.
Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias.
Front Endocrinol (Lausanne)
; 13: 1024108, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36440216
16.
The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes.
Mol Genet Genomic Med
; 8(7): e1292, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32394641
17.
Hypoxia Signaling and Circadian Disruption in and by Pheochromocytoma.
Front Endocrinol (Lausanne)
; 9: 612, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30386298
18.
Association study of apoptosis gene polymorphisms in mitochondrial diabetes: A potential role in the pathogenicity of MD.
Gene
; 639: 18-26, 2018 Jan 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-28987347
19.
Whole mitochondrial genome screening of a family with maternally inherited diabetes and deafness (MIDD) associated with retinopathy: A putative haplotype associated to MIDD and a novel MT-CO2 m.8241T>G mutation.
J Diabetes Complications
; 31(1): 253-259, 2017 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27422531
20.
Oxidative stress and glutathione S-transferase genetic polymorphisms in medical staff professionally exposed to ionizing radiation.
Int J Radiat Biol
; 93(7): 697-704, 2017 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-28287017