Detalhe da pesquisa
1.
Mechanisms and significance of tissue-specific MICU regulation of the mitochondrial calcium uniporter complex.
Mol Cell
; 82(19): 3661-3676.e8, 2022 10 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36206740
2.
Thromboembolic toxicity observed with concurrent trametinib and lenalidomide therapy.
Pediatr Blood Cancer
; 70(3): e30190, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36602034
3.
The heart in RASopathies.
Am J Med Genet C Semin Med Genet
; 190(4): 440-451, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36408797
4.
Trametinib for Refractory Chylous Effusions and Systemic Complications in Children with Noonan Syndrome.
J Pediatr
; 248: 81-88.e1, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35605646
5.
Hepatic abnormalities in youth with Turner syndrome.
Liver Int
; 42(10): 2237-2246, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35785515
6.
Long-chain fatty acid oxidation and respiratory complex I deficiencies distinguish Barth Syndrome from idiopathic pediatric cardiomyopathy.
J Inherit Metab Dis
; 45(1): 111-124, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34821394
7.
Tafazzin deficiency impairs CoA-dependent oxidative metabolism in cardiac mitochondria.
J Biol Chem
; 295(35): 12485-12497, 2020 08 28.
Artigo
Inglês
| MEDLINE | ID: mdl-32665401
8.
The Prevalence of Noonan Spectrum Disorders in Pediatric Patients with Pulmonary Valve Stenosis.
J Pediatr
; 234: 134-141.e5, 2021 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-33794220
9.
Outcomes in hospitalisations of women with Turner syndrome compared to women without Turner syndrome.
Cardiol Young
; 31(10): 1667-1674, 2021 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-33736722
10.
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
Hum Mol Genet
; 27(20): 3475-3487, 2018 10 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29931299
11.
Alteration of cardiolipin biosynthesis and remodeling in single right ventricle congenital heart disease.
Am J Physiol Heart Circ Physiol
; 318(4): H787-H800, 2020 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32056460
12.
Automated syndrome diagnosis by three-dimensional facial imaging.
Genet Med
; 22(10): 1682-1693, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32475986
13.
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
Inglês
| MEDLINE | ID: mdl-28040730
14.
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Am J Med Genet A
; 179(9): 1725-1744, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31222966
15.
Cardiac transplantation in children with Noonan syndrome.
Pediatr Transplant
; 23(6): e13535, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31259454
16.
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.
Genet Med
; 20(10): 1206-1215, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-29300374
17.
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.
Am J Med Genet A
; 176(8): 1711-1722, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30055033
18.
Anesthetic Considerations for Children With Multisystem Smooth Muscle Dysfunction Syndrome and Review of the Literature.
J Cardiothorac Vasc Anesth
; 36(8 Pt B): 3205-3211, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35568655
19.
Dysregulation of cardiolipin biosynthesis in pediatric heart failure.
J Mol Cell Cardiol
; 74: 251-9, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-24937604
20.
Megacystis Associated With an Underlying ACTA2 Variant and Diagnosis of Multisystemic Smooth Muscle Dysfunction Syndrome: A Case Report.
Urology
; 173: e17-e19, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36495950