Detalhe da pesquisa
1.
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.
Am J Hum Genet
; 109(10): 1828-1849, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36084634
2.
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Am J Hum Genet
; 107(5): 977-988, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33058759
3.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Am J Hum Genet
; 107(3): 499-513, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32721402
4.
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).
Int J Mol Sci
; 22(3)2021 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33530447
5.
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.
Hum Mutat
; 41(12): 2087-2093, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906221
6.
GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.
Hum Mol Genet
; 26(23): 4556-4571, 2017 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973407
7.
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.
Hum Mutat
; 39(10): 1428-1441, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30007050
8.
A novel ANO3 variant in two siblings with different phenotypes.
Parkinsonism Relat Disord
; 111: 105413, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37116293
9.
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.
Eur J Hum Genet
; 31(4): 479-484, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36599940
10.
FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Nat Commun
; 14(1): 2026, 2023 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37041148
11.
Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights.
Genes (Basel)
; 12(7)2021 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34356063
12.
The Global Emergency of Novel Coronavirus (SARS-CoV-2): An Update of the Current Status and Forecasting.
Int J Environ Res Public Health
; 17(16)2020 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32764417
13.
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance.
Mol Genet Genomic Med
; 8(8): e1336, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32519823