Lista de obras - Anna Sowinska-Seidler - Dominio Público Uruguay

A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2

scientific article published on 14 April 2020

Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis

artículo científico publicado en 2020

Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis.

artículo científico publicado en 2016

Correction to: Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review

artículo científico publicado en 2020

Correction to: Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

artículo científico publicado en 2018

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

artículo científico publicado en 2014

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

scientific article published on 08 January 2019

Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia

artículo científico publicado en 2016

Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.

artículo científico publicado en 2016

Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia

artículo científico publicado en 2019

Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review

artículo científico publicado en 2020

Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.

artículo científico publicado en 2014

Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene

artículo científico publicado en 2014

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

artículo científico publicado en 2022

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses

scientific article published on 15 February 2014

Noncoding copy-number variations are associated with congenital limb malformation.

artículo científico publicado en 2017

Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

scientific article published on 29 May 2018

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome

artículo científico publicado en 2019

Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing: Report of a novel homozygous missense FRAS1 mutation.

artículo científico publicado en 2016

Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects

artículo científico publicado en 2022

Split-hand/foot malformation - molecular cause and implications in genetic counseling.

scientific article published on 27 October 2013

The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings

artículo científico publicado en 2020

Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.

artículo científico publicado en 2014

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

artículo científico publicado en 2016

X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes

artículo científico publicado en 2016

Lista de obras de Anna Sowinska-Seidler

A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2

Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis

Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis.

Correction to: Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review

Correction to: Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia

Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.

Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia

Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review

Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.

Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses

Noncoding copy-number variations are associated with congenital limb malformation.

Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome

Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing: Report of a novel homozygous missense FRAS1 mutation.

Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects

Split-hand/foot malformation - molecular cause and implications in genetic counseling.

The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings

Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.

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

X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes