Detalhe da pesquisa
1.
A ZNRF3-dependent Wnt/ß-catenin signaling gradient is required for adrenal homeostasis.
Genes Dev
; 33(3-4): 209-220, 2019 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30692207
2.
CXADR-Like Membrane Protein Regulates Colonic Epithelial Cell Proliferation and Prevents Tumor Growth.
Gastroenterology
; 166(1): 103-116.e9, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37716376
3.
A thermosensitive PCNA allele underlies an ataxia-telangiectasia-like disorder.
J Biol Chem
; 299(5): 104656, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36990216
4.
Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population.
Kidney Int
; 105(3): 593-607, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38143038
5.
Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders.
J Pediatr
; 265: 113841, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37995928
6.
Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.
Am J Med Genet A
; 191(5): 1282-1292, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36826837
7.
Epigenetic regulation of innate immune memory in microglia.
J Neuroinflammation
; 19(1): 111, 2022 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35568856
8.
High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight.
Am J Med Genet A
; 188(9): 2599-2604, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35792504
9.
Cellular Model of Malignant Transformation of Primary Human Astrocytes Induced by Deadhesion/Readhesion Cycles.
Int J Mol Sci
; 23(9)2022 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35562862
10.
Extracellular Matrix Proteome Remodeling in Human Glioblastoma and Medulloblastoma.
J Proteome Res
; 20(10): 4693-4707, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34533964
11.
Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein.
Hum Mol Genet
; 28(10): 1620-1628, 2019 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30608580
12.
Role of the Mevalonate Pathway in Adrenocortical Tumorigenesis.
Horm Metab Res
; 53(2): 124-131, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33307558
13.
APOL1 in an ethnically diverse pediatric population with nephrotic syndrome: implications in focal segmental glomerulosclerosis and other diagnoses.
Pediatr Nephrol
; 36(8): 2327-2336, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33585978
14.
LOXL3 Silencing Affected Cell Adhesion and Invasion in U87MG Glioma Cells.
Int J Mol Sci
; 22(15)2021 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34360836
15.
Clinical and Genetic Characterization of a Constitutional Delay of Growth and Puberty Cohort.
Neuroendocrinology
; 110(11-12): 959-966, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31726455
16.
Targeted RNAseq of Formalin-Fixed Paraffin-Embedded Tissue to Differentiate Among Benign and Malignant Adrenal Cortical Tumors.
Horm Metab Res
; 52(8): 607-613, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32791542
17.
Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing.
J Pediatr
; 215: 192-198, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630891
18.
Evaluation of SHOX defects in the era of next-generation sequencing.
Clin Genet
; 96(3): 261-265, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31219618
19.
A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant.
Clin Genet
; 95(1): 172-176, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30294972
20.
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
Brain
; 141(8): 2299-2311, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29985992