Detalhe da pesquisa
1.
Diagnostic yield of endoscopic and EUS-guided biopsy techniques in subepithelial lesions of the upper GI tract: a systematic review.
Gastrointest Endosc
; 99(6): 895-911.e13, 2024 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38360118
2.
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
Am J Hum Genet
; 104(4): 709-720, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30905399
3.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med
; 24(10): 2051-2064, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35833929
4.
Evaluation of dental maturity in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis.
Eur J Orthod
; 44(3): 287-293, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34424951
5.
A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis.
Hum Mol Genet
; 28(15): 2501-2513, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31067316
6.
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Am J Hum Genet
; 102(6): 1195-1203, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861108
7.
Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.
Am J Hum Genet
; 97(3): 378-88, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26340333
8.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med
; 25(11): 100962, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37658852
9.
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
J Med Genet
; 54(4): 260-268, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27884935
10.
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.
Hum Mutat
; 37(8): 732-6, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27158814
11.
A novel mutation in FGFR2.
Am J Med Genet A
; 167A(1): 123-7, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25425289
12.
Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.
BMC Med Genet
; 15: 95, 2014 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-25174698
13.
Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis.
Eur J Hum Genet
; 30(3): 282-290, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34719684
14.
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Front Immunol
; 11: 614, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32373116
15.
Genetic Causes of Craniosynostosis: An Update.
Mol Syndromol
; 10(1-2): 6-23, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30976276
16.
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.
Eur J Hum Genet
; 25(10): 1126-1133, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28905882
17.
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
Nat Genet
; 45(3): 304-7, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23354436
18.
Distribution of glycine/GABA neurons in the ventromedial medulla with descending spinal projections and evidence for an ascending glycine/GABA projection.
PLoS One
; 7(4): e35293, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22558137