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.
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
3.
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
4.
Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia.
Clin Genet
; 96(5): 429-438, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31347140
5.
Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.
Am J Med Genet A
; 179(12): 2447-2453, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31512363
6.
Noncoding copy-number variations are associated with congenital limb malformation.
Genet Med
; 20(6): 599-607, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29236091
7.
Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.
J Hum Genet
; 61(7): 577-83, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27030147
8.
Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.
J Hum Genet
; 61(5): 457-61, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26763883
9.
Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis.
Ginekol Pol
; 87(10): 706-710, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27958623
10.
Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.
Birth Defects Res A Clin Mol Teratol
; 100(10): 764-71, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25196357
11.
A genotype-phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus.
Front Mol Biosci
; 10: 1250714, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37916192
12.
Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.
J Appl Genet
; 64(1): 89-104, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36369640
13.
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
14.
Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature.
Front Pediatr
; 10: 990111, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36313893
15.
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
16.
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
17.
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
18.
A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2.
Birth Defects Res
; 112(9): 652-659, 2020 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32286743
19.
The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings.
Front Genet
; 11: 593407, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33193738
20.
Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis.
Sci Rep
; 10(1): 4159, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32139749