Detalhe da pesquisa
1.
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.
Hum Mol Genet
; 32(9): 1429-1438, 2023 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36440975
2.
DENTAL ENAMEL FORMATION AND IMPLICATIONS FOR ORAL HEALTH AND DISEASE.
Physiol Rev
; 97(3): 939-993, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28468833
3.
Natural history of KBG syndrome in a large European cohort.
Hum Mol Genet
; 31(24): 4131-4142, 2022 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861666
4.
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene.
Am J Hum Genet
; 108(10): 1964-1980, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34547244
5.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
J Med Genet
; 60(12): 1224-1234, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586838
6.
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
J Med Genet
; 60(7): 644-654, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446582
7.
Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome.
Am J Med Genet A
; 191(9): 2364-2375, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37226940
8.
Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.
Am J Med Genet A
; 191(4): 1044-1049, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36628575
9.
Tethered cord syndrome in KBG syndrome.
Am J Med Genet A
; 191(5): 1222-1226, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36722669
10.
Epilepsy in KBG syndrome.
Dev Med Child Neurol
; 65(5): 712-720, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36196002
11.
[Clinical and genetic analysis of three children with KBG syndrome due to novel variants of ANKRD11 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(1): 1-6, 2023 Jan 10.
Artigo
em Zh
| MEDLINE | ID: mdl-36584991
12.
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.
Hum Mol Genet
; 29(11): 1900-1921, 2020 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196547
13.
Cryptophthalmos, dental anomalies, oral vestibule defect, and a novel FREM2 mutation.
J Hum Genet
; 67(2): 115-118, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34408272
14.
Mutations in LRP5 and BMP4 are associated with mesiodens, tooth agenesis, root malformation, and oral exostoses.
Clin Genet
; 102(4): 333-338, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35754005
15.
Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome.
Clin Genet
; 102(1): 66-71, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35352826
16.
KBG syndrome in a Chinese population: A case series.
Am J Med Genet A
; 188(6): 1693-1699, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35174959
17.
Congenital heart defects in molecularly confirmed KBG syndrome patients.
Am J Med Genet A
; 188(4): 1149-1159, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34971082
18.
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
Int J Mol Sci
; 23(11)2022 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35682590
19.
[Analysis of three patients with KBG syndrome and epileptic seizures due to variants of ANKRD11 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(5): 479-483, 2022 May 10.
Artigo
em Zh
| MEDLINE | ID: mdl-35598261
20.
Family and case-control genetic study of MSX1 polymorphisms in peg-shaped teeth Jordanian population.
BMC Oral Health
; 22(1): 16, 2022 01 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35065635