Detalhe da pesquisa
1.
Urea Cycle Dysregulation Generates Clinically Relevant Genomic and Biochemical Signatures.
Cell
; 174(6): 1559-1570.e22, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30100185
2.
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.
Am J Hum Genet
; 111(5): 841-862, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38593811
3.
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Cell
; 146(6): 889-903, 2011 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-21925314
4.
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.
Genet Med
; 26(4): 101039, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054409
5.
Improving access to exome sequencing in a medically underserved population through the Texome Project.
Genet Med
; 26(6): 101102, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38431799
6.
Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders.
Mol Genet Metab
; 141(3): 108112, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38301530
7.
Osteogenesis Imperfecta: Skeletal and Non-skeletal Challenges in Adulthood.
Calcif Tissue Int
; 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38836890
8.
Genetic Evaluation for Monogenic Disorders of Low Bone Mass and Increased Bone Fragility: What Clinicians Need to Know.
Curr Osteoporos Rep
; 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38600318
9.
Monitoring the treatment of urea cycle disorders using phenylbutyrate metabolite analyses: Still many lessons to learn.
Mol Genet Metab
; 140(3): 107699, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37717413
10.
Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders.
Mol Genet Metab
; 140(3): 107696, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37690181
11.
A multicenter study to evaluate pain characteristics in osteogenesis imperfecta.
Am J Med Genet A
; 191(1): 160-172, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36271817
12.
ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype.
Hum Genet
; 140(10): 1471-1485, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34417872
13.
Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension.
Am J Hum Genet
; 103(2): 276-287, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30075114
14.
Biomarkers for liver disease in urea cycle disorders.
Mol Genet Metab
; 133(2): 148-156, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33846069
15.
Health-related quality of life in adults with osteogenesis imperfecta.
Clin Genet
; 99(6): 772-779, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33580568
16.
Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis.
Nature
; 527(7578): 379-383, 2015 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-26560030
17.
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.
Hum Mutat
; 41(5): 946-960, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31943503
18.
Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta.
Genet Med
; 22(3): 581-589, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31772349
19.
Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders.
Mol Genet Metab
; 131(4): 390-397, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33288448
20.
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
Ann Neurol
; 86(1): 116-128, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31018246