Detalhe da pesquisa
1.
Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia.
Am J Med Genet A
; 185(12): 3675-3682, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34272929
2.
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
Am J Hum Genet
; 99(2): 392-406, 2016 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27426733
3.
Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.
Hum Mutat
; 39(1): 103-113, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29024177
4.
Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.
Am J Hum Genet
; 96(4): 623-30, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25817014
5.
Multicentric plasmacytoma in a harbor porpoise Phocoena phocoena off the coast of Whidbey Island, Washington State, USA.
Dis Aquat Organ
; 127(3): 225-230, 2018 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29516861
6.
Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.
Hum Mutat
; 38(10): 1360-1364, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28639312
7.
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Am J Med Genet A
; 173(7): 1739-1746, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28498505
8.
How does the optometry profession move up a gear to tackle the problem of climate change?
Ophthalmic Physiol Opt
; 42(1): 4-7, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34786759
9.
Development of a PCR assay to detect cyprinid herpesvirus 1 in koi and common carp.
Dis Aquat Organ
; 123(1): 19-27, 2017 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28177290
10.
Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes.
Am J Med Genet A
; 170(10): 2706-10, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27410456
11.
Accuracy of the ABC/2 Score for Intracerebral Hemorrhage: Systematic Review and Analysis of MISTIE, CLEAR-IVH, and CLEAR III.
Stroke
; 46(9): 2470-6, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26243227
12.
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.
Am J Hum Genet
; 89(5): 595-606, 2011 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22019272
13.
A new acro-osteolysis syndrome caused by duplications including PTHLH.
J Hum Genet
; 59(9): 484-7, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25007883
14.
FLNA-filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function.
Bone Rep
; 18: 101668, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36909664
15.
Satellite Rearing of Aedes Mosquito Eggs: Synchronized Empirical Test of a Novel Mass Rearing Model.
J Am Mosq Control Assoc
; 39(1): 12-17, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37043605
16.
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.
Hum Mutat
; 33(4): 665-73, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22190451
17.
Investigation of koi herpesvirus latency in koi.
J Virol
; 85(10): 4954-62, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21389134
18.
Host (avian) biting preference of southern California Culex mosquitoes (Diptera: Culicidae).
J Med Entomol
; 49(3): 687-96, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22679878
19.
Avian simuliotoxicosis: outbreak in Louisiana.
Avian Dis
; 56(3): 616-20, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23050485
20.
Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia.
Eur J Hum Genet
; 30(4): 480-484, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33967277