Detalhe da pesquisa
1.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 601-617, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395208
2.
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Am J Med Genet A
; : e63559, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421105
3.
Acute myeloid leukemia and dilated cardiomyopathy in a pediatric patient with D-2-hydroxyglutaric aciduria type I.
Am J Med Genet A
; 188(9): 2707-2711, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35785415
4.
Thirty-Year Survival after Cardiac Surgery for Patients with Turner Syndrome.
J Pediatr
; 239: 187-192.e1, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34450123
5.
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
6.
Predictors of Rapid Aortic Root Dilation and Referral for Aortic Surgery in Marfan Syndrome.
Pediatr Cardiol
; 39(7): 1453-1461, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29948025
7.
Atenolol versus losartan in children and young adults with Marfan's syndrome.
N Engl J Med
; 371(22): 2061-71, 2014 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-25405392
8.
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.
Neurogenetics
; 17(3): 159-64, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27003583
9.
Complex Chronic Conditions Among Children Undergoing Cardiac Surgery.
Pediatr Cardiol
; 37(6): 1046-56, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27033243
10.
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.
Genet Med
; 16(11): e1, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25356975
11.
Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy.
Am Heart J
; 165(5): 828-835.e3, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23622922
12.
A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease.
J Am Heart Assoc
; 12(18): e029340, 2023 09 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37681527
13.
Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time.
Genet Med
; 12(7): 413-23, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20526204
14.
Glycogen storage disease type III diagnosis and management guidelines.
Genet Med
; 12(7): 446-63, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20631546
15.
Two-stage total aortic replacement for Loeys-Dietz syndrome.
J Card Surg
; 25(2): 223-4, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20492031
16.
Two-Stage Total Aortic Replacement for Loeys-Dietz Syndrome.
J Card Surg
; 2010 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-20070434
17.
Adult surgical experience with Loeys-Dietz syndrome.
Ann Thorac Surg
; 99(4): 1275-81, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25678502
18.
Myocardial immediate early gene activation after cardiopulmonary bypass with cardiac ischemia-reperfusion.
Ann Thorac Surg
; 73(1): 156-62, 2002 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-11834005
19.
Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis.
Clin Dysmorphol
; 13(2): 63-69, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15057119
20.
Hemolytic anemia secondary to modified blalock-taussig shunt.
Pediatr Cardiol
; 28(3): 238-40, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17437150