Detalhe da pesquisa
1.
Position effects at the FGF8 locus are associated with femoral hypoplasia.
Am J Hum Genet
; 108(9): 1725-1734, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34433009
2.
Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.
Pediatr Nephrol
; 39(6): 1847-1858, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196016
3.
Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole-exome sequencing.
Am J Med Genet A
; 191(1): 205-219, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36317839
4.
The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions.
Mol Genet Genomics
; 297(5): 1343-1352, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35821352
5.
Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia.
Am J Med Genet A
; 188(2): 642-647, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34773354
6.
WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy.
Am J Med Genet A
; 188(10): 3071-3077, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35875935
7.
The pediatric common variable immunodeficiency - from genetics to therapy: a review.
Eur J Pediatr
; 181(4): 1371-1383, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34939152
8.
De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.
Int J Mol Sci
; 23(2)2022 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35054877
9.
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.
Am J Med Genet A
; 185(4): 1195-1203, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33421337
10.
Transcriptome Changes in Three Brain Regions during Chronic Lithium Administration in the Rat Models of Mania and Depression.
Int J Mol Sci
; 22(3)2021 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-33498969
11.
Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35.
Am J Med Genet A
; 182(10): 2417-2425, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32804427
12.
Molecular landscape of congenital vertebral malformations: recent discoveries and future directions.
Orphanet J Rare Dis
; 19(1): 32, 2024 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38291488
13.
Chromatinopathies: insight in clinical aspects and underlying epigenetic changes.
J Appl Genet
; 65(2): 287-301, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38180712
14.
Rare multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) - the clinical and molecular summary.
Eur J Med Genet
; 66(1): 104668, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36384198
15.
Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism.
J Appl Genet
; 64(3): 507-514, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37599337
16.
SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably.
Orphanet J Rare Dis
; 17(1): 325, 2022 08 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36028842
17.
Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.
Front Mol Biosci
; 9: 865494, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35591945
18.
Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis.
Front Genet
; 13: 931822, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35873489
19.
Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review.
J Appl Genet
; 62(1): 107-113, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131036
20.
Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene.
Orphanet J Rare Dis
; 16(1): 286, 2021 06 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34174922