Lista de obras -

17p13.3 duplication as a cause of psychomotor developmental delay in an infant - a further case of a new syndrome

artículo científico publicado en 2016

A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC)

artículo científico publicado en 2021

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.

artículo científico publicado en 2012

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

artículo científico publicado en 2013

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

artículo científico publicado en 2012

Assessment of the role of copy-number variants in 150 patients with congenital heart defects

artículo científico publicado en 2012

Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome.

artículo científico publicado en 2008

CAV3 mutation in a patient with transient hyperCKemia and myalgia

artículo científico publicado en 2016

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

artículo científico publicado en 2011

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.

artículo científico publicado en 2018

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

artículo científico publicado en 2021

Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.

artículo científico publicado en 2012

Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation

artículo científico publicado en 2007

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

scientific article published on 26 March 2009

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity

artículo científico publicado en 2014

Correction to: Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling

scholarly article by Anna Kutkowska-Kazmierczak et al published May 2018 in Journal of Applied Genetics

Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling

artículo científico publicado en 2018

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

artículo científico publicado en 2015

Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features

artículo científico publicado en 2018

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.

artículo científico publicado en 2011

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly

Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the Gene

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

artículo científico publicado en 2012

Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient.

artículo científico publicado en 2009

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

artículo científico publicado en 2022

Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to , and as novel candidates for genes causing human Mendelian disorders

article

Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation

artículo científico publicado en 2005

Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients

artículo científico

Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors

artículo científico publicado en 2015

Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition.

artículo científico publicado en 2012

Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients With Orofacial Clefting.

artículo científico publicado en 2014

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations.

artículo científico publicado en 2014

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

artículo científico publicado en 2018

Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics

artículo científico publicado en 2015

Polydactyly and obesity - the clinical manifestation of ciliopathy: a boy with Bardet-Biedl syndrome.

artículo científico publicado en 2016

Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion inv(5)(p15.33q35.3).

artículo científico publicado en 2005

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

artículo científico publicado en 2008

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.

artículo científico publicado en 2010

Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.

artículo científico publicado en 2013

Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation.

artículo científico publicado en 2004

The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes.

artículo científico

The analysis of genetic aberrations in children with inherited neurometabolic and neurodevelopmental disorders.

artículo científico publicado en 2014

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

artículo científico

The genetics of obesity - pathogenetic, clinical and diagnostic aspects

artículo científico publicado en 2017

The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children.

artículo científico publicado en 2014

Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab.

artículo científico publicado en 2016

Variants in CUL4B are associated with cerebral malformations

artículo científico publicado en 2015

[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues]

artículo científico publicado en 2011

[Balanced chromosomal rearrangements resulting in intellectual disability. An analysis of 22 cases with application of CGH and FISH methods]

artículo científico publicado en 2009

[Characterization of marker chromosomes using molecular cytogenetic methods in patients with mental retardation and congenital malformations]

artículo científico publicado en 2006

[Clinical manifestation of chromosome 2 long arm terminal deletion--presentation of four cases]

scientific article published on 01 January 2007

[Clinical picture and molecular analysis in a familial case of Nail-Patella Syndrome--identification of a new mutation in LMX1B gene]

scientific article published on 01 April 2005

[Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities]

scientific article published on 01 January 2006

[Prenatal diagnosis of Crouzon syndrome--actual diagnostic possibilities]

artículo científico publicado en 2006

[Variability in clinical expression of Noonan syndrome--the report of two familial cases].

artículo científico publicado en 2008

[Variable clinical expression of familial Incontinentia Pigmenti syndrome - presentation of three cases]

artículo científico publicado en 2008

Lista de obras de

17p13.3 duplication as a cause of psychomotor developmental delay in an infant - a further case of a new syndrome

A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC)

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

Assessment of the role of copy-number variants in 150 patients with congenital heart defects

Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome.

CAV3 mutation in a patient with transient hyperCKemia and myalgia

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.

Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity

Correction to: Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling

Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly

Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the Gene

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient.

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

Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to , and as novel candidates for genes causing human Mendelian disorders

Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation

Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients

Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors

Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition.

Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients With Orofacial Clefting.

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations.

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics

Polydactyly and obesity - the clinical manifestation of ciliopathy: a boy with Bardet-Biedl syndrome.

Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion inv(5)(p15.33q35.3).

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.

Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.

Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation.

The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes.

The analysis of genetic aberrations in children with inherited neurometabolic and neurodevelopmental disorders.

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

The genetics of obesity - pathogenetic, clinical and diagnostic aspects

The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children.

Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab.

Variants in CUL4B are associated with cerebral malformations

[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues]

[Balanced chromosomal rearrangements resulting in intellectual disability. An analysis of 22 cases with application of CGH and FISH methods]

[Characterization of marker chromosomes using molecular cytogenetic methods in patients with mental retardation and congenital malformations]

[Clinical manifestation of chromosome 2 long arm terminal deletion--presentation of four cases]

[Clinical picture and molecular analysis in a familial case of Nail-Patella Syndrome--identification of a new mutation in LMX1B gene]

[Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities]

[Prenatal diagnosis of Crouzon syndrome--actual diagnostic possibilities]

[Variability in clinical expression of Noonan syndrome--the report of two familial cases].

[Variable clinical expression of familial Incontinentia Pigmenti syndrome - presentation of three cases]