Lista de obras -

A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH

artículo científico publicado en 2007

Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies

artículo científico publicado en 2016

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

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

artículo científico publicado en 2011

Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).

artículo científico publicado en 2008

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

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

artículo científico publicado en 2011

High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate

artículo científico publicado en 2015

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

New immortalized cell lines of patients with small supernumerary marker chromosome: towards the establishment of a cell bank

artículo científico publicado en 2007

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

artículo científico publicado en 2012

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 distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2004

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

artículo científico publicado en 2014

[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

[Case of subtelomeric aberration as a cause of familial intellectual disability with congenital defects and dysmorphic features--problems of diagnosis and genetic counseling]

scientific article published on 01 July 2003

[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

[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

[Familial subtelomeric abnormality der(4)t(4p16.3;21q22.3) as a cause of mental retardation and mild dysmorphic features]

artículo científico publicado en 2006

[Subtelomeric aberration as a cause of severe somatic and psychomotor retardation in a child with dysmorphic features and CNS defects]

artículo científico publicado en 2004

Lista de obras de

A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH

Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies

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

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

Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).

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

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

High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate

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

New immortalized cell lines of patients with small supernumerary marker chromosome: towards the establishment of a cell bank

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

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

Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

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

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

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

[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]

[Case of subtelomeric aberration as a cause of familial intellectual disability with congenital defects and dysmorphic features--problems of diagnosis and genetic counseling]

[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]

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

[Familial subtelomeric abnormality der(4)t(4p16.3;21q22.3) as a cause of mental retardation and mild dysmorphic features]

[Subtelomeric aberration as a cause of severe somatic and psychomotor retardation in a child with dysmorphic features and CNS defects]