Agnieszka Sobczyńska‐Tomaszewska
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View article: Familial 3M Syndrome – as an Example of Diagnostic Difficulties in Rare Genetic Syndromes
Familial 3M Syndrome – as an Example of Diagnostic Difficulties in Rare Genetic Syndromes Open
This is the first description of a familial syndrome from a local population. Identifying new gene variants has helped expand the spectrum of variations associated with the pathogenesis of 3M syndrome. The expanding database of genetic var…
View article: Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene
Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene Open
Senataxin, an RNA/DNA helicase, is a key protein providing genome stability and one of the best characterized R-loop-binding factors playing an important role in transcription and DNA repair processes. Pathogenic SETX gene variants cause a…
View article: Autosomal dominant myopathy caused by a novel ISCU variant
Autosomal dominant myopathy caused by a novel ISCU variant Open
Hereditary myopathy with lactic acidosis due to Iron-Sulfur Cluster Assembly Enzyme (ISCU) deficiency is a rare disorder of energy metabolism characterized clinically by myopathy with exercise intolerance, and biochemically by deficiencies…
View article: Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings Open
View article: Molecular analysis of inherited disorders of cornification in Polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Molecular analysis of inherited disorders of cornification in Polish patients show novel variants and functional data and provokes questions on the significance of secondary findings. Open
Background: The Mendelian Disorders of Cornification (MeDOC) comprise a large number of disorders that are manifested by either localised (palmoplantar keratoderma, PPK) or generalised (ichthyoses) symptoms. The MeDOC are highly heterogeni…
View article: Case report: VEXAS as an example of autoinflammatory syndrome in pulmonology clinical practice
Case report: VEXAS as an example of autoinflammatory syndrome in pulmonology clinical practice Open
Lung involvement is not widely recognized as a complication of auto-inflammatory diseases. We present a broad approach to diagnose a severe form of autoinflammatory syndrome in an adult male patient. A 63-year-old Caucasian male presented …
View article: Gitelman syndrome with normocalciuria – a case report
Gitelman syndrome with normocalciuria – a case report Open
View article: Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation
Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation Open
Genetic analysis of the X chromosome, based on cytogenetic and molecular methods of the highest available resolution, is extremely important in women with reproductive failure. These methods allow establishing accurately the breakpoints an…
View article: Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population—Data Based on the National Newborn Screening Programme
Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population—Data Based on the National Newborn Screening Programme Open
Biotinidase deficiency (BD) is a rare autosomal recessive metabolic disease. Previously the disease was identified only by clinical signs and symptoms, and since recently, it has been included in newborn screening programs (NBS) worldwide,…
View article: Transferrin gene polymorphisms alter the transferrin focusing pattern, making congenital disorder of glycosylation diagnosis difficult
Transferrin gene polymorphisms alter the transferrin focusing pattern, making congenital disorder of glycosylation diagnosis difficult Open
Background: Several transferrin gene polymorphisms are known to result in a shifted IEF pattern. The aim of this study was to characterize the transferrin gene polymorphisms observed in patients from one referral center. Materials and meth…
View article: A new family with spastic paraplegia type 51 and novel mutations in AP4E1
A new family with spastic paraplegia type 51 and novel mutations in AP4E1 Open
Background Autosomal recessive mutations in the AP-4 (adaptor protein complex 4) complex subunit ϵ − 1 (AP-4E1) gene on chromosome 15q21.2 are known to cause spastic paraplegia 51 (SPG51). The exact phenotype of SPG51 remains poorly charac…
View article: Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) with a New Pathogenic Variant in TNFRSF1A Gene in a Family of the Adult Male with Renal AA Amyloidosis—Diagnostic and Therapeutic Challenge for Clinicians
Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) with a New Pathogenic Variant in TNFRSF1A Gene in a Family of the Adult Male with Renal AA Amyloidosis—Diagnostic and Therapeutic Challenge for Clinicians Open
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) belongs to systemic autoinflammatory diseases (AIDs). Many of these syndromes are genetically conditioned and can be inherited. Diagnosis relies on clinical symptoms and s…
View article: P008 Identification of two novel mutations (c.3639dup and ex16-17a dup) in the CFTR gene in Polish patient with cystic fibrosis
P008 Identification of two novel mutations (c.3639dup and ex16-17a dup) in the CFTR gene in Polish patient with cystic fibrosis Open
View article: Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign
Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign Open
An abbreviated tract of five thymidines (5T) in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is found in ∼10% of individuals in the general population. When found in trans with a severe CFTR mutation, 5T …
View article: P001 Thirteen novel and rare mutations causing cystic fibrosis not included in CFTR 2 database
P001 Thirteen novel and rare mutations causing cystic fibrosis not included in CFTR 2 database Open
View article: CADASIL caused by stereotyped p.Arg207Cys mutation of NOTCH3 gene
CADASIL caused by stereotyped p.Arg207Cys mutation of NOTCH3 gene Open
Najczęstszą genetycznie uwarunkowaną chorobą małych naczyń związaną z udarami i naczyniopochodnym otępieniem jest mózgowa autosomalna dominująca arteriopatia z podkorowymi zawałami i leukoencefalopatią (cerebral autosomal dominant arteriop…
View article: Ectrodactyly-ectodermal dysplasia-clefting syndrome with unusual cutaneous vitiligoid and psoriasiform lesions due to a novel single point TP63 gene mutation
Ectrodactyly-ectodermal dysplasia-clefting syndrome with unusual cutaneous vitiligoid and psoriasiform lesions due to a novel single point TP63 gene mutation Open
ENWEndNote BIBJabRef, Mendeley RISPapers, Reference Manager, RefWorks, Zotero AMA Wawrzycki B, Pietrzak A, Chodorowska G, et al. Ectrodactyly-ectodermal dysplasia-clefting syndrome with unusual cutaneous vitiligoid and psoriasiform lesions…
View article: First patient with hereditary spastic paraplegia type 8 in Poland
First patient with hereditary spastic paraplegia type 8 in Poland Open
Key Clinical Message SPG 8 is an autosomal dominant HSP , which phenotype results from KIAA 0196 gene mutations. There have been twelve types of KIAA 0196 mutations described in HGMD , which are located in conservative region of gene encod…
View article: Immune system disturbances in Clouston syndrome
Immune system disturbances in Clouston syndrome Open
Background Clouston syndrome belongs to the family of ectodermal dysplasias. So far, a defective immune response has not been reported in Clouston syndrome. We report, for the first time, immunological particularities of a large multigener…
View article: Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype–phenotype correlation
Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype–phenotype correlation Open
Epidermolysis bullosa simplex (EBS) is a hereditary genodermatosis characterised by trauma-induced intraepidermal blistering of the skin. EBS is mostly caused by mutations in the KRT5 and KRT14 genes. Disease severity partially depends on …