Lista de obras - Anna Kutkowska-Kazmierczak

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

artículo científico publicado en 2007

A novel de novo 20q13.11q13.12 microdeletion in a boy with neurodevelopmental disorders - case report

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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 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

Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex

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

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

artículo científico publicado en 2018

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

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience

artículo científico publicado en 2022

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

artículo científico publicado en 2015

Novel and recurrent COL7A1 mutation in a Polish population

artículo científico publicado en 2012

Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation

artículo científico publicado en 2015

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

Pitfalls of whole exome-sequencing: hidden DYNC2H1 mutations in patients with Jeune asphyxiating thoracic dystrophy.

artículo científico publicado en 2012

Recommendations on the diagnosis of male infertility - genetic testing [Rekomendacje dotyczące diagnostyki genetycznej w niepłodności męskiej]

artículo científico publicado en 2020

Subtelomeric rearrangements detected by FISH in three of 33 families with idiopathic mental retardation and minor physical anomalies.

artículo científico publicado en 2002

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

artículo científico publicado en 2004

The COL7A1 mutation database.

artículo científico publicado en 2011

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

[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

[Clinical expression of triploidy]

scientific article published on 01 October 2002

[Genetically determined human susceptibility to selected infectious diseases]

artículo científico publicado en 2008

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

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

[Thyroid gland neoplasm in a child in remission from acute lymphoblastic leukemia]

scientific article published on 01 May 1996

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

artículo científico publicado en 2008

Lista de obras de Anna Kutkowska-Kazmierczak

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

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

A novel de novo 20q13.11q13.12 microdeletion in a boy with neurodevelopmental disorders - case report

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

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

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 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.

Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex

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

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

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

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

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

Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience

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

Novel and recurrent COL7A1 mutation in a Polish population

Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation

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

Pitfalls of whole exome-sequencing: hidden DYNC2H1 mutations in patients with Jeune asphyxiating thoracic dystrophy.

Recommendations on the diagnosis of male infertility - genetic testing [Rekomendacje dotyczące diagnostyki genetycznej w niepłodności męskiej]

Subtelomeric rearrangements detected by FISH in three of 33 families with idiopathic mental retardation and minor physical anomalies.

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

The COL7A1 mutation database.

The genetics of obesity - pathogenetic, clinical and diagnostic aspects

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

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

[Clinical expression of triploidy]

[Genetically determined human susceptibility to selected infectious diseases]

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

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

[Thyroid gland neoplasm in a child in remission from acute lymphoblastic leukemia]

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