Detalhe da pesquisa
1.
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Hum Mol Genet
; 32(21): 3063-3077, 2023 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37552066
2.
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Am J Hum Genet
; 107(6): 1096-1112, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33232675
3.
Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies.
Clin Chem
; 68(9): 1177-1183, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35869940
4.
FGF receptors control alveolar elastogenesis.
Development
; 144(24): 4563-4572, 2017 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29122839
5.
Neuroblastoma in Adolescents and Children Older than 10 Years: Unusual Clinicopathologic and Biologic Features.
J Pediatr Hematol Oncol
; 41(8): 586-595, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30973487
6.
E3 ubiquitin ligase RFWD2 controls lung branching through protein-level regulation of ETV transcription factors.
Proc Natl Acad Sci U S A
; 113(27): 7557-62, 2016 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27335464
7.
Syndactyly in a novel Fras1(rdf) mutant results from interruption of signals for interdigital apoptosis.
Dev Dyn
; 245(4): 497-507, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26813283
8.
Ontogeny of the mouse vocal fold epithelium.
Dev Biol
; 399(2): 263-82, 2015 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25601450
9.
Genome-scale study of transcription factor expression in the branching mouse lung.
Dev Dyn
; 241(9): 1432-53, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22711520
10.
Hyperinsulinemic Hypoglycemia and Growth Hormone Deficiency Secondary to 20p11 Deletion.
Case Rep Endocrinol
; 2023: 8658540, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37404330
11.
Integrated genetic profiling of archival pediatric high-grade glial tumors and reassessment with 2021 WHO classification of paediatric CNS tumours.
Cancer Genet
; 274-275: 10-20, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36917897
12.
Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing.
J Mol Diagn
; 23(5): 651-657, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33631350
13.
Clinical and molecular cytogenetic characterization of a novel 10q interstitial deletion: a case report and review of the literature.
Mol Cytogenet
; 12: 20, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31131026
14.
Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature.
J Child Neurol
; 34(2): 86-93, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30458662
15.
Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors.
Eur J Med Genet
; 62(1): 9-14, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29698806
16.
Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder.
Eur J Med Genet
; 59(9): 470-3, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27238888
17.
FGF-Regulated ETV Transcription Factors Control FGF-SHH Feedback Loop in Lung Branching.
Dev Cell
; 35(3): 322-32, 2015 Nov 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26555052
18.
An evolutionarily conserved arginine is essential for Tre1 G protein-coupled receptor function during germ cell migration in Drosophila melanogaster.
PLoS One
; 5(7): e11839, 2010 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-20676220