Lista de obras - Krystyna Chrzanowska - Dominio Público Uruguay

A case of premature ovarian insufficiency in Nijmegen breakage syndrome patient and review of literature. From gene mutation to clinical management

scientific article published on 12 June 2019

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

artículo científico publicado en 2013

A further report of Brachmann-de Lange syndrome in two sibs with normal parents.

artículo científico publicado en 1995

A girl with two syndromes: Turner syndrome and Costello syndrome. A case history

scientific article published on 23 April 2012

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family

artículo científico publicado en 2016

A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features.

artículo científico publicado en 2016

A regulatory role for NBS1 in strand-specific mutagenesis during somatic hypermutation

artículo científico publicado en 2008

Abnormalities in the T and NK lymphocyte phenotype in patients with Nijmegen breakage syndrome.

artículo científico publicado en 2003

Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.

artículo científico publicado en 2016

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome

artículo científico publicado en 2004

Alternative end joining during switch recombination in patients with ataxia-telangiectasia

artículo científico publicado en 2002

Anemia in Patients With Resistance to Thyroid Hormone α: A Role for Thyroid Hormone Receptor α in Human Erythropoiesis.

artículo científico publicado en 2017

Biliary atresia in children with aberrations involving chromosome 11q

artículo científico publicado en 2014

Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype.

artículo científico publicado en 2020

Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein

artículo científico publicado en 2006

Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies

scientific article published on 01 March 2006

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.

artículo científico publicado en 2014

Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence.

artículo científico publicado en 2016

Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome

artículo científico publicado en 2009

Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma

artículo científico publicado en 2017

Correction to: Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence

artículo científico publicado en 2018

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

scientific article published on 01 September 2019

DNA damage and transcriptional regulation in iPSC-derived neurons from Ataxia Telangiectasia patients

artículo científico publicado en 2019

DYSCERNE: a European Network of Centres of Expertise for Dysmorphology.

artículo científico publicado en 2010

Delineation of the role of the Mre11 complex in class switch recombination

artículo científico publicado en 2004

Detection of a deletion of exons 8-16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assay.

artículo científico publicado en 2006

Diagnosis and management of Silver-Russell syndrome: first international consensus statement

artículo científico publicado en 2016

Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

artículo científico publicado en 2010

Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome.

artículo científico publicado en 1995

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.

artículo científico publicado en 2008

Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome.

artículo científico publicado en 2018

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

artículo científico publicado en 2015

Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations.

artículo científico publicado en 2006

Extreme variation in apoptosis capacity amongst lymphoid cells of Nijmegen breakage syndrome patients

artículo científico publicado en 2007

Fibroblast-derived integration-free iPSC line ISRM-NBS1 from an 18-year-old Nijmegen Breakage Syndrome patient carrying the homozygous NBN c.657_661del5 mutation

artículo científico publicado en 2018

Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

artículo científico publicado en 2010

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

artículo científico publicado en 2013

Ganglioglioma associated with alterations of NBN gene. A case report.

artículo científico publicado en 2009

Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland

scientific article published on 21 November 2019

Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis

artículo científico publicado en 2017

Hematopoietic stem cell transplantation positively affects the natural history of cancer in Nijmegen breakage syndrome

artículo científico publicado en 2020

Heterogeneity of humoral immune abnormalities in children with Nijmegen breakage syndrome: an 8-year follow-up study in a single centre.

artículo científico publicado en 2002

Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients.

artículo científico publicado en 2009

High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study

artículo científico publicado en 2010

History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?

artículo científico publicado en 2012

Immortalization of T-cells is accompanied by gradual changes in CpG methylation resulting in a profile resembling a subset of T-cell leukemias.

artículo científico publicado en 2014

Impaired elimination of DNA double-strand break-containing lymphocytes in ataxia telangiectasia and Nijmegen breakage syndrome.

artículo científico publicado en 2006

Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.

artículo científico publicado en 2017

Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.

artículo científico publicado en 2014

Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patients.

artículo científico publicado en 2010

Magnetic resonance imaging of brain abnormalities in patients with the Nijmegen breakage syndrome

artículo científico publicado en 2004

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

Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family

artículo científico publicado en 2011

Maternal uniparental disomy 7--review and further delineation of the phenotype.

artículo científico publicado en 2000

Miller postaxial acrofacial dysostosis syndrome. Follow-up data of a family and confirmation of autosomal recessive inheritance

scientific article published on 01 May 1993

Minimal clinical findings in a patient with 15qter microdeletion syndrome: delineation of the associated phenotype

artículo científico publicado en 2012

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

artículo científico publicado en 2008

Mystery of DNA repair: the role of the MRN complex and ATM kinase in DNA damage repair

artículo científico publicado en 2008

New mutations in the ATM gene and clinical data of 25 AT patients

artículo científico publicado en 2011

Nijmegen Breakage Syndrome

artículo científico publicado en 2017

Nijmegen Breakage Syndrome Cells Fail To Induce the p53-Mediated DNA Damage Response following Exposure to Ionizing Radiation ⬇️

artículo científico publicado el 1 de septiembre de 1997

Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.

artículo científico publicado en 2015

Nijmegen breakage syndrome (NBS) ⬇️

artículo científico publicado el 28 de febrero de 2012

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

artículo científico publicado en 2012

Nijmegen breakage syndrome: Long-term monitoring of viral and immunological biomarkers in peripheral blood before development of malignancy.

artículo científico publicado en 2010

Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS)

artículo científico publicado en 2009

Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes

artículo científico publicado en 2021

Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome

artículo científico publicado en 2016

Ocular findings in Nijmegen breakage syndrome

artículo científico publicado el 1 de enero de 2011

Oral findings in patients with Nijmegen breakage syndrome: a preliminary study

artículo científico publicado en 2009

Pediatric Medulloblastoma: The Role of Heterozygous Germ-Line Mutations in the NBN Gene

article

Polish activity within Orphanet Europe--state of art of database and services

artículo científico

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.

artículo científico publicado en 2015

Probability rate of unbalanced offspring at birth and risk of unfavorable pregnancy outcomes in families of carriers of chromosomal reciprocal translocations involving chromosome 7

artículo científico publicado en 2013

Radiation Induction of p53 in Cells from Nijmegen Breakage Syndrome Is Defective but Not Similar to Ataxia-Telangiectasia ⬇️

artículo científico publicado el 26 de enero de 1998

Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene

artículo científico publicado en 2020

Reluctance to accept FG syndrome diagnosis

artículo científico publicado en 1999

Severe neonatal spondylometaphyseal dysplasia in two siblings

artículo científico publicado en 2009

Silver-Russell Syndrome - Part I: Clinical Characteristics and Genetic Background.

artículo científico publicado en 2015

Skeletal dysplasia syndrome with progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes: a variant example of the Lenz-Majewski syndrome.

artículo científico publicado en 1989

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

artículo científico publicado en 2018

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

artículo científico publicado en 2014

Spontaneously immortalized T lymphocytes from Nijmegen Breakage Syndrome patients display phenotypes typical for lymphoma cells

artículo científico publicado en 2007

Spontaneously immortalized human T lymphocytes develop gain of chromosomal region 2p13-24 as an early and common genetic event.

artículo científico publicado en 2004

Syndromic dystelephalangy

artículo científico publicado en 2002

Syndromic foramina parietalia permagna

artículo científico publicado en 1998

Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome

scientific article published on 20 June 2020

Telomere maintenance and cell cycle regulation in spontaneously immortalized T-cell lines from Nijmegen breakage syndrome patients.

artículo científico publicado en 2003

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

The ARX mutations: a frequent cause of X-linked mental retardation.

artículo científico publicado en 2006

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

artículo científico publicado en 2016

The defect in humoral immunity in patients with Nijmegen breakage syndrome is explained by defects in peripheral B lymphocyte maturation.

artículo científico publicado en 2012

The frequency of NBN molecular variants in pediatric astrocytic tumors.

artículo científico publicado en 2009

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort

scientific article published on 10 November 2018

The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies

artículo científico publicado en 2017

The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

scientific article published on 26 April 2020

Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).

artículo científico publicado en 2015

Transient Elastography for Detection of Liver Fibrosis in Children With Autosomal Recessive Polycystic Kidney Disease

artículo científico publicado en 2018

Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications

artículo científico publicado en 2020

Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1

artículo científico publicado en 2010

X-linked hypophosphatemic rickets in children: clinical phenotype, therapeutic strategies and molecular background

scientific article published on 09 December 2020

Zespół Silvera-Rusella. Część II.

artículo científico publicado en 2016

[Laboratory diagnosis of immunoglobulin deficiencies]

artículo científico publicado en 2002

Lista de obras de Krystyna Chrzanowska

A case of premature ovarian insufficiency in Nijmegen breakage syndrome patient and review of literature. From gene mutation to clinical management

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

A further report of Brachmann-de Lange syndrome in two sibs with normal parents.

A girl with two syndromes: Turner syndrome and Costello syndrome. A case history

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family

A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features.

A regulatory role for NBS1 in strand-specific mutagenesis during somatic hypermutation

Abnormalities in the T and NK lymphocyte phenotype in patients with Nijmegen breakage syndrome.

Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome

Alternative end joining during switch recombination in patients with ataxia-telangiectasia

Anemia in Patients With Resistance to Thyroid Hormone α: A Role for Thyroid Hormone Receptor α in Human Erythropoiesis.

Biliary atresia in children with aberrations involving chromosome 11q

Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype.

Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein

Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.

Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence.

Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome

Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma

Correction to: Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

DNA damage and transcriptional regulation in iPSC-derived neurons from Ataxia Telangiectasia patients

DYSCERNE: a European Network of Centres of Expertise for Dysmorphology.

Delineation of the role of the Mre11 complex in class switch recombination

Detection of a deletion of exons 8-16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assay.

Diagnosis and management of Silver-Russell syndrome: first international consensus statement

Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome.

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.

Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome.

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations.

Extreme variation in apoptosis capacity amongst lymphoid cells of Nijmegen breakage syndrome patients

Fibroblast-derived integration-free iPSC line ISRM-NBS1 from an 18-year-old Nijmegen Breakage Syndrome patient carrying the homozygous NBN c.657_661del5 mutation

Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

Ganglioglioma associated with alterations of NBN gene. A case report.

Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland

Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis

Hematopoietic stem cell transplantation positively affects the natural history of cancer in Nijmegen breakage syndrome

Heterogeneity of humoral immune abnormalities in children with Nijmegen breakage syndrome: an 8-year follow-up study in a single centre.

Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients.

High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study

History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?

Immortalization of T-cells is accompanied by gradual changes in CpG methylation resulting in a profile resembling a subset of T-cell leukemias.

Impaired elimination of DNA double-strand break-containing lymphocytes in ataxia telangiectasia and Nijmegen breakage syndrome.

Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.

Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.

Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patients.

Magnetic resonance imaging of brain abnormalities in patients with the Nijmegen breakage syndrome

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

Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family

Maternal uniparental disomy 7--review and further delineation of the phenotype.

Miller postaxial acrofacial dysostosis syndrome. Follow-up data of a family and confirmation of autosomal recessive inheritance

Minimal clinical findings in a patient with 15qter microdeletion syndrome: delineation of the associated phenotype

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

Mystery of DNA repair: the role of the MRN complex and ATM kinase in DNA damage repair

New mutations in the ATM gene and clinical data of 25 AT patients

Nijmegen Breakage Syndrome

Nijmegen Breakage Syndrome Cells Fail To Induce the p53-Mediated DNA Damage Response following Exposure to Ionizing Radiation ⬇️

Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.

Nijmegen breakage syndrome (NBS) ⬇️

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

Nijmegen breakage syndrome: Long-term monitoring of viral and immunological biomarkers in peripheral blood before development of malignancy.

Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS)

Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes

Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome

Ocular findings in Nijmegen breakage syndrome

Oral findings in patients with Nijmegen breakage syndrome: a preliminary study

Pediatric Medulloblastoma: The Role of Heterozygous Germ-Line Mutations in the NBN Gene

Polish activity within Orphanet Europe--state of art of database and services

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.

Probability rate of unbalanced offspring at birth and risk of unfavorable pregnancy outcomes in families of carriers of chromosomal reciprocal translocations involving chromosome 7

Radiation Induction of p53 in Cells from Nijmegen Breakage Syndrome Is Defective but Not Similar to Ataxia-Telangiectasia ⬇️

Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene

Reluctance to accept FG syndrome diagnosis

Severe neonatal spondylometaphyseal dysplasia in two siblings

Silver-Russell Syndrome - Part I: Clinical Characteristics and Genetic Background.