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.
Evaluating the efficacy of a ketogenic diet in managing drug resistant paediatric DEDPC5-related epilepsy.
Epilepsy Behav
; 150: 109535, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38118233
3.
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
4.
HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families.
Genet Med
; 25(11): 100928, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37427568
5.
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
6.
Genotype-phenotype correlation in clubfoot (talipes equinovarus).
J Med Genet
; 59(3): 209-219, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34782442
7.
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
8.
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
9.
Genome sequencing in families with congenital limb malformations.
Hum Genet
; 140(8): 1229-1239, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34159400
10.
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
11.
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
12.
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
13.
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
14.
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
15.
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
16.
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
17.
Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5.
Birth Defects Res A Clin Mol Teratol
; 100(4): 314-8, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24706454
18.
Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion.
J Med Genet
; 50(9): 579-84, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23709756
19.
Prenatal diagnosis of craniosynostosis (compound Saethre-Chotzen syndrome phenotype) caused by a de novo complex chromosomal rearrangement (1; 4; 7) with a microdeletion of 7p21.3-7p15.3, including TWIST1 gene--a case report.
Ginekol Pol
; 85(7): 541-4, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25118508
20.
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