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CIRCULATION RESEARCH, ISSN 0009-7330, 03/2013, Volume 112, Issue 7, pp. 1059 - 1072
Journal Article
Human Genetics, ISSN 0340-6717, 6/2019, Volume 138, Issue 6, pp. 625 - 634
Rare heterozygous variants in SMAD6 have been identified as a significant genetic contributor to bicuspid aortic valve-associated thoracic aortic aneurysm on... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Aneurysms | Bone morphogenetic proteins | Genetic aspects | Cardiology | Heart | Smad protein | Phenotypes | Pulmonary arteries | Cardiomyopathy | Lung | Craniosynostosis | Coronary artery | Stenosis | Dysostosis | Thorax | Pulmonary artery | Pathogenicity | Genotype & phenotype | Dilated cardiomyopathy | Aorta | Aortic valve | Index Medicus
Journal Article
The Journal of pediatrics, 08/2019
To assess the outcome of population-based newborn screening for mucopolysaccharidosis type II (MPS II) during the first year of screening in Illinois. Tandem... 
Index Medicus | Abridged Index Medicus
Journal Article
The Journal of biological chemistry, ISSN 0021-9258, 02/2018, Volume 293, Issue 6, pp. 2041 - 2052
The complex disorder Cantu syndrome (CS) arises from gain-of-function mutations in either KCNJ8 or ABCC9, the genes encoding the Kir6.1 and SUR2 subunits of... 
Index Medicus | cardiovascular disease | potassium channel | electrophysiology | ABC transporter | Membrane Biology | nucleotide
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 01/2017, Volume 100, Issue 1, p. 21
Fibromuscular dysplasia (FMD) is a heterogeneous group of non-atherosclerotic and non-inflammatory arterial diseases that primarily involves the renal and... 
Dysplasia | Genetic aspects | Gene mutations | Health aspects
Journal Article
Heart Rhythm, ISSN 1547-5271, 11/2015, Volume 12, Issue 11, p. 2316
Gain-of-function (GOF) mutations in the K.sub.ATP channel subunits Kir6.1 and SUR2 cause Cantu syndrome (CS), a disease characterized by multiple... 
Cells
Journal Article
NeuroImage: Clinical, ISSN 2213-1582, 2019, Volume 23, pp. 101916 - 101916
Phenylketonuria (PKU) is a recessive disorder characterized by disruption in the metabolism of the amino acid phenylalanine (Phe). Prior research indicates... 
Brain | Phenylketonuria | Developmental trajectories | Executive abilities | White matter | Gray matter | Index Medicus
Journal Article
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 09/2017, Volume 12, Issue C, pp. 8 - 13
Sapropterin dihydrochloride (BH ) reduces phenylalanine (Phe) levels and improves white matter integrity in a subset of individuals with phenylketonuria (PKU)... 
Phenylketonuria | Intelligence | Sapropterin dihydrochloride | White matter | BH4 | Diffusion tensor imaging | EARLY-TREATED PHENYLKETONURIA | MOLECULAR-GENETICS | WHITE-MATTER INTEGRITY | EXECUTIVE ABILITIES | CHILDREN | INDIVIDUALS | TREATMENT STRATEGIES | GENETICS & HEREDITY | LONG-TERM TREATMENT | PHENYLALANINE-HYDROXYLASE DEFICIENCY | TETRAHYDROBIOPTERIN BH4
Journal Article
Journal of Pediatrics, ISSN 0022-3476, 05/2011, Volume 158, Issue 5, pp. 864 - 865
Journal Article
The Journal of Pediatrics, ISSN 0022-3476, 05/2011, Volume 158, Issue 5, pp. 864 - 865
Journal Article
The Journal of Pediatrics, ISSN 0022-3476, 2011, Volume 158, Issue 5, pp. 864 - 865
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, pp. 1094 - 1101
Journal Article
Nature Genetics, ISSN 1061-4036, 12/2008, Volume 40, Issue 12, pp. 1466 - 1471
Journal Article