Detalhe da pesquisa
1.
A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.
Am J Med Genet A
; 191(2): 490-497, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36513625
2.
Liver prometastatic reaction: Stimulating factors and responsive cancer phenotypes.
Semin Cancer Biol
; 71: 122-133, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32805395
3.
Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis.
Am J Med Genet C Semin Med Genet
; 190(1): 121-130, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35312150
4.
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Am J Hum Genet
; 100(2): 257-266, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132689
5.
Gram-negative Microbiota Blooms in Premature Twins Discordant for Parenteral Nutrition-associated Cholestasis.
J Pediatr Gastroenterol Nutr
; 70(5): 640-644, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31939866
6.
Studying the urine microbiome in superficial bladder cancer: samples obtained by midstream voiding versus cystoscopy.
BMC Urol
; 20(1): 5, 2020 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31992287
7.
Gut microbial composition difference between pediatric ALL survivors and siblings.
Pediatr Hematol Oncol
; 37(6): 475-488, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32427521
8.
Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.
Mol Genet Metab
; 128(1-2): 151-161, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31445883
9.
Genome sequencing analysis of blood cells identifies germline haplotypes strongly associated with drug resistance in osteosarcoma patients.
BMC Cancer
; 19(1): 357, 2019 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-30991985
10.
EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome.
Neuropediatrics
; 50(4): 257-261, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31226715
11.
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.
Hum Mutat
; 39(1): 69-79, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29044765
12.
Automated, high-throughput derivation, characterization and differentiation of induced pluripotent stem cells.
Nat Methods
; 12(9): 885-92, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26237226
13.
Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.
Ophthalmology
; 125(12): 1937-1952, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30055837
14.
Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy.
Brain
; 140(2): 370-386, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28007986
15.
Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.
Brain
; 140(3): 568-581, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28364549
16.
Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.
J Pediatr Gastroenterol Nutr
; 66(3): 428-435, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29112083
17.
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause.
J Med Genet
; 54(8): 521-529, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28087721
18.
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.
Hum Genet
; 136(4): 399-408, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28220259
19.
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
Hum Genet
; 136(4): 409-420, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28213671
20.
Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.
Genet Med
; 19(12): 1367-1375, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28617419