Detalhe da pesquisa
1.
DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis.
Nat Immunol;
17(5): 495-504, 2016 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27019227
2.
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.
Am J Hum Genet;
110(12): 2103-2111, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37924809
3.
Potential endpoints for assessment of bone health in persons with neurofibromatosis type 1.
Clin Trials;
21(1): 29-39, 2024 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37772407
4.
Genetic association and characterization of FSTL5 in isolated clubfoot.
Hum Mol Genet;
29(22): 3717-3728, 2021 01 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33105483
5.
Biallelic variants in RNU12 cause CDAGS syndrome.
Hum Mutat;
42(8): 1042-1052, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34085356
6.
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Am J Hum Genet;
103(6): 1038-1044, 2018 12 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30503519
7.
Are Some Randomized Clinical Trials Impossible?
J Pediatr Orthop;
41(1): e90-e93, 2021 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32852366
8.
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.
Hum Mutat;
41(1): 182-195, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31471994
9.
Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci.
Hum Mol Genet;
27(22): 3986-3998, 2018 11 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30395268
10.
A molecular basis for neurofibroma-associated skeletal manifestations in NF1.
Genet Med;
22(11): 1786-1793, 2020 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32601387
11.
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia.
Am J Hum Genet;
97(6): 837-47, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26637977
12.
Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1.
J Med Genet;
52(4): 256-61, 2015 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25612910
13.
Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly.
Hum Mol Genet;
22(3): 444-51, 2013 Feb 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23100325
14.
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
Am J Med Genet A;
167A(2): 287-95, 2015 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25557259
15.
A Retrospective, Cross-Sectional Analysis of Motor Development, Cognition, and Mood in 87 Patients With Childhood-Onset Hereditary Spastic Paraplegias.
Pediatr Neurol;
152: 93-97, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38242023
16.
Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality.
Cell Rep;
43(3): 113907, 2024 Mar 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38461417
17.
Viable mutations of mouse midnolin suppress B cell malignancies.
J Exp Med;
221(6)2024 Jun 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38625151
18.
Impaired glycine neurotransmission causes adolescent idiopathic scoliosis.
J Clin Invest;
134(2)2024 Jan 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37962965
19.
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Elife;
122024 Jan 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38277211
20.
Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology.
Hepatology;
55(4): 1139-45, 2012 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22095780