Lista de obras - Jacek Pietrzyk - Dominio Público Uruguay

776C>G polymorphism of the transcobalamin II gene as a risk factor for spina bifida

artículo científico publicado en 2003

A novel conserved mutation in SGCE gene in 3 unrelated patients with classical phenotype myoclonus-dystonia syndrome

artículo científico publicado en 2013

AO-14. Whole genome expression in very low birth weight (VLBW) infants with and without bronchopulmonary dysplasia (BPD)—Preliminary results

Additional genetic risk factor for death in children with acute lymphoblastic leukemia: a common polymorphism of the MTHFR gene

artículo científico publicado en 2009

Additional risk factor for the development of ALL.

artículo científico publicado en 2009

An iTRAQ-Based Quantitative Proteomic Analysis of Plasma Proteins in Preterm Newborns With Retinopathy of Prematurity

artículo científico publicado en 2018

Assessment of long-term renal complications in extremely low birth weight children

artículo científico publicado en 2011

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

artículo científico publicado en 2012

Blood phenylalanine clearance and BH(4)-responsiveness in classic phenylketonuria.

artículo científico publicado en 2011

Brain phenylalanine measurement in patients with phenylketonuria: a serious diagnostic method or just reading tea leaves?

artículo científico publicado en 2007

Can early echocardiographic findings predict patent ductus arteriosus?

artículo científico publicado en 2008

Cell therapy of a patient with type III <i>osteogenesis imperfecta</i> caused by mutation in <i>COL1A2</i> gene and unstable collagen type I

Comparative two time-point proteome analysis of the plasma from preterm infants with and without bronchopulmonary dysplasia

scientific article published on 24 August 2019

Comparison of whole genome expression profile between preterm and full-term newborns

artículo científico publicado en 2017

Congenital and genetic related causes of end-stage renal disease--data from Polish Registry of Renal Rreplacement Therapy in Children 2000-2004

artículo científico publicado en 2006

Congenital cytomegaly in one twin - a case report

artículo científico publicado en 2012

Congruence of the current practices in Hymenoptera venom allergic patients in Poland with EAACI guidelines

artículo científico publicado en 2011

Coronary artery abnormalities in Kawasaki disease

artículo científico publicado en 2013

Correlation between early neonatal diet and atopic symptoms up to 5-7 years of age in very low birth weight infants: follow-up of randomized, double-blind study

artículo científico publicado en 2009

Cytomegalovirus infection--diagnostic and therapeutic difficulties in neonatal intensive care unit

artículo científico publicado en 2010

Development and maturation of the immune system in preterm neonates: results from a whole genome expression study

artículo científico publicado en 2014

Development of a model for assessment of phenylalanine hydroxylase activity in newborns with phenylketonuria receiving tetrahydrobiopterin: a potential for practical implementation

artículo científico publicado en 2008

Development of children's hymenoptera venom allergy quality of life scale (CHVAQoLS).

artículo científico publicado en 2013

Diagnosis and venom specific immunotherapy (VIT) in allergic children in Poland--how much the current practice follows the international guidelines?

artículo científico publicado en 2010

Difficulties in diagnosing febrile states in 21-month-old patient: case report

artículo científico publicado en 2007

Difficulties in diagnosing febrile states in 3-month-old infant

artículo científico publicado en 2010

Do infants treated in the neonatal intensive care unit need multi-stage, universal hearing screening testing?

artículo científico publicado en 2011

Does aberrant architecture of nuclear LINC complex stop muscle cell development?

artículo científico publicado en 2015

Erratum: Transcriptome profiling of the newborn mouse lung after hypoxia and reoxygenation: hyperoxic reoxygenation affects mTOR signaling pathway, DNA repair and JNK-pathway regulation

scholarly article published in Pediatric Research

From a regional cohort of extremely low birth weight infants: cardiac function at the age of 7 years.

artículo científico publicado en 2013

Gene expression profiling in preterm infants: new aspects of bronchopulmonary dysplasia development

artículo científico publicado en 2013

Genetic Background of Immune Complications after Allogeneic Hematopoietic Stem Cell Transplantation in Children.

artículo científico publicado en 2016

Genetic risk factors of bronchopulmonary dysplasia

artículo científico publicado en 2008

Genotyping and minimal residual disease study in children with acute myeloid leukemia: preliminary results

artículo científico publicado el 1 de enero de 2010

Health status at the age of 5-7 years of preterm infants with and without bronchopulmonary dysplasia

artículo científico publicado en 2009

Health-related quality of life in Polish adolescents with Hymenoptera venom allergy treated with venom immunotherapy.

artículo científico publicado en 2012

Homozygosity for the rs9939609T allele of the FTO gene may have protective effect on becoming overweight in survivors of childhood acute lymphoblastic leukaemia

artículo científico publicado en 2011

Hypoxia-reoxygenation affects whole-genome expression in the newborn eye.

artículo científico publicado en 2014

Identification of deletions in children with congenital hypothyroidism and thyroid dysgenesis with the use of multiplex ligation-dependent probe amplification

artículo científico publicado en 2015

Immune System Regulation Affected by a Murine Experimental Model of Bronchopulmonary Dysplasia: Genomic and Epigenetic Findings

artículo científico publicado en 2019

Impact of Hymenoptera venom allergy and the effects of specific venom immunotherapy on mast cell metabolites in sensitized children.

artículo científico publicado en 2014

Impact of antenatal glucocorticosteroids on whole-genome expression in preterm babies

artículo científico publicado en 2013

Influence of the lactose free and lactose containing diet on prevalence of gram-negative sepsis and feeding intolerance in very low birth weight infants: double-blind randomized trial

artículo científico publicado en 2002

Insulin-like growth factor-1 (IGF-1) serum concentration among 7-year-old extremely low birth weight children--an indicator of growth problems

artículo científico publicado en 2011

LAT1 gene variants--potential factors influencing the clinical course of phenylketonuria

artículo científico publicado en 2006

Laboratory markers of mast cell and basophil activation in monitoring rush immunotherapy in bee venom-allergic children

artículo científico publicado en 2011

MTRNR2L12: A Candidate Blood Marker of Early Alzheimer's Disease-Like Dementia in Adults with Down Syndrome

artículo científico publicado en 2015

Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness

artículo científico publicado en 2013

Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III

artículo científico publicado en 2018

New insight into the pathogenesis of retinopathy of prematurity: assessment of whole-genome expression

artículo científico publicado en 2012

Ovarian hyperstimulation syndrome in newborns--a case presentation and literature review

artículo científico publicado en 2008

PP-182. Impact of intrauterine growth on renal function and renal size at the age of 7years of extremely low birth weight infants (ELBW)

PP-185. Genome wide microarray analysis in very low birth weight (VLBW) infants with retinopathy of prematurity (ROP) — Preliminary results

Peritoneal drainage as an alternative to laparotomy in premature infants with complicated necrotizing enterocolitis

artículo científico publicado en 2002

Pituitary enlargement in patients with PROP1 gene inactivating mutation represents cystic hyperplasia of the intermediate pituitary lobe. Histopathology and over 10 years follow-up of two patients

artículo científico publicado en 2009

Plasma levels of leptin and soluble leptin receptor and polymorphisms of leptin gene -18G > A and leptin receptor genes K109R and Q223R, in survivors of childhood acute lymphoblastic leukemia

artículo científico publicado en 2011

Plasma proteome changes in cord blood samples from preterm infants

artículo científico publicado en 2018

Polymorphism of the thymidylate synthase gene and risk of relapse in childhood ALL.

artículo científico publicado en 2011

Polymorphisms of the 5,10-methylenetetrahydrofolate and the methionine synthase reductase genes as independent risk factors for spina bifida

artículo científico publicado en 2003

Preterm birth and respiratory disease in later life

artículo científico publicado en 2010

Prospective plasma proteome changes in preterm infants with different gestational ages

scientific article published on 23 May 2018

Psychomotor development at the age of 5-7 years of very low birth weight infants

artículo científico publicado en 2005

Pulmonary vascular disease is evident in gene regulation of experimental bronchopulmonary dysplasia

artículo científico publicado en 2019

Relationship between Stereoscopic Vision, Visual Perception, and Microstructure Changes of Corpus Callosum and Occipital White Matter in the 4-Year-Old Very Low Birth Weight Children

artículo científico publicado en 2015

Respiratory syncytial virus prophylaxis among preterm infants--four seasons' experience

artículo científico publicado en 2009

Retinopathy of prematurity: is genetic predisposition an important risk factor?

Routine use of CANTAB system for detection of neuropsychological deficits in patients with PKU.

artículo científico publicado en 2010

Safety and Immunogenicity of a 13-valent Pneumococcal Conjugate Vaccine Manufactured With and Without Polysorbate 80 Given to Healthy Infants at 2, 3, 4 and 12 Months of Age

article

Safety and immunogenicity of a DTaP-IPV(Vero) (serum-free) combination vaccine in comparison to DTaP-IPV(Mkc) when administered simultaneously with Haemophilus influenzae type B conjugate vaccine (PRP-T) in children at 2, 3.5, 5 and 16 months of age

artículo científico publicado en 2008

Severe dystonic encephalopathy without hyperphenylalaninemia associated with an 18-bp deletion within the proximal GCH1 promoter

scientific article published on 14 September 2010

Short- and long-term impact of hyperoxia on the blood and retinal cells' transcriptome in a mouse model of oxygen-induced retinopathy

artículo científico publicado en 2019

Single exon deletions in the PAH gene in Polish PKU-patients

artículo científico publicado en 2008

Thanatophoric dysplasia: three patients hospitalized in PAIP in 1994-2000

artículo científico publicado en 2002

The clinical role of vascular endothelial growth factor (VEGF) system in the pathogenesis of retinopathy of prematurity

artículo científico publicado en 2008

The prevalence and risk factors of allergic and respiratory symptoms in a regional cohort of extremely low birth weight children (<1000 g)

artículo científico publicado en 2013

Transcriptome analysis reveals dysregulation of genes involved in oxidative phosphorylation in a murine model of retinopathy of prematurity

scientific article published on 13 February 2020

Transcriptome profiling of the newborn mouse brain after hypoxia-reoxygenation: hyperoxic reoxygenation induces inflammatory and energy failure responsive genes.

artículo científico publicado en 2013

Transcriptome profiling of the newborn mouse lung after hypoxia and reoxygenation: hyperoxic reoxygenation affects mTOR signaling pathway, DNA repair, and JNK-pathway regulation.

artículo científico publicado en 2013

Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix

artículo científico publicado en 2008

Use of computerized neuropsychological tests and of nuclear magnetic resonance spectroscopy in clinical assessment of adult patients with phenylketonuria

artículo científico publicado en 2011

[A new view on kidney diseases in the light of advances in clinical genetics]

artículo científico publicado en 2006

[Adaptation of Vespide Allergy Quality of Life Questionnaire for Polish children with venom allergy and for their parents]

artículo científico publicado en 2010

[Assessment of somatic development and body composition in the 7th year of life in children born as extremely low birth weight infants (≤1000g); a multi-centre cross-sectional study of a cohort born between 2002 and 2004 in the Malopolska voivodship

artículo científico publicado en 2012

[Blood gases values forecasting by artificial neural network in prematurely born infants with respiratory distress]

artículo científico publicado en 2002

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

artículo científico publicado en 2006

[Congenital brain tumor in neonate--case report and review of literature].

artículo científico publicado en 2005

[Diagnostic and prognostic reliability of interleukin-10 measurements in very low birth weight infants with late-onset sepsis]

artículo científico publicado en 2002

[Fetal CD34+ cells isolated from maternal blood and cytogenetics array as potential tools in screening, non-invasive prenatal diagnosis--preliminary research]

artículo científico publicado en 2011

[Genotyping and treatment modification in patients with phenylketonuria: an introduction to pharmacogenomics].

artículo científico publicado en 2009

[Health-related quality of life in children with Hymenoptera venom allergy treated with VIT and quality of life of their parents]

scientific article published on 01 January 2010

[Increasing prevalence of asthma in school children--ISAAC study (International Study of Asthma and Allergies in Children)]

scientific article published on 01 January 2003

[Intellectual and motor development of extremely low birth weight (≤1000 g) children in the 7th year of life; a multicenter, cross-sectional study of children born in the Malopolska voivodship between 2002 and 2004]

artículo científico publicado en 2012

[Nervous system involvement in three children poisoned with thallium]

scientific article published on 01 January 2004

[New prospects of prevention and treatment of inherited diseases and congenital malformations in the fetus]

artículo científico publicado en 2002

[Prevalence and risk factors of bronchopulmonary dysplasia among extremely low birth weight newborns of regional birth cohort of south-east Poland]

scientific article published on 01 January 2009

[Primary ciliary dyskinesia in highlights of consensus statement. Presentation of pediatric cases]

artículo científico publicado en 2010

[Risk factors of retinopathy of prematurity in newborns treated in neonatal intensive care unit of University Children's Hospital Collegium Medicum Jagiellonian University]

scientific article published on 01 January 2002

[Somatic and psychomotor development of preterm infants at the age of 2 years, with and without bronchopulmonary dysplasia]

artículo científico publicado en 2005

[The maternal phenylketonuria syndrom--still current problem].

artículo científico publicado en 2009

[The prevalence of allergic rhinitis and conjunctivitis in school children from Kraków and Poznań--ISAAC study (International Study of Asthma and Allergies in Childhood)]

artículo científico publicado en 2004

[The use of microarrays for gene expression analysis in premature children--new strategy of searching for genetic basis of late complications of prematurity--preliminary research]

artículo científico publicado en 2011

[Wheezing in very low birth weight infants: sequence of early neonatal lung injury or increased susceptibility for allergic reactions? Follow-up study up to age of 5-7 years]

artículo científico publicado en 2007

Lista de obras de Jacek Pietrzyk

776C>G polymorphism of the transcobalamin II gene as a risk factor for spina bifida

A novel conserved mutation in SGCE gene in 3 unrelated patients with classical phenotype myoclonus-dystonia syndrome

AO-14. Whole genome expression in very low birth weight (VLBW) infants with and without bronchopulmonary dysplasia (BPD)—Preliminary results

Additional genetic risk factor for death in children with acute lymphoblastic leukemia: a common polymorphism of the MTHFR gene

Additional risk factor for the development of ALL.

An iTRAQ-Based Quantitative Proteomic Analysis of Plasma Proteins in Preterm Newborns With Retinopathy of Prematurity

Assessment of long-term renal complications in extremely low birth weight children

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

Blood phenylalanine clearance and BH(4)-responsiveness in classic phenylketonuria.

Brain phenylalanine measurement in patients with phenylketonuria: a serious diagnostic method or just reading tea leaves?

Can early echocardiographic findings predict patent ductus arteriosus?

Cell therapy of a patient with type III <i>osteogenesis imperfecta</i> caused by mutation in <i>COL1A2</i> gene and unstable collagen type I

Comparative two time-point proteome analysis of the plasma from preterm infants with and without bronchopulmonary dysplasia

Comparison of whole genome expression profile between preterm and full-term newborns

Congenital and genetic related causes of end-stage renal disease--data from Polish Registry of Renal Rreplacement Therapy in Children 2000-2004

Congenital cytomegaly in one twin - a case report

Congruence of the current practices in Hymenoptera venom allergic patients in Poland with EAACI guidelines

Coronary artery abnormalities in Kawasaki disease

Correlation between early neonatal diet and atopic symptoms up to 5-7 years of age in very low birth weight infants: follow-up of randomized, double-blind study

Cytomegalovirus infection--diagnostic and therapeutic difficulties in neonatal intensive care unit

Development and maturation of the immune system in preterm neonates: results from a whole genome expression study

Development of a model for assessment of phenylalanine hydroxylase activity in newborns with phenylketonuria receiving tetrahydrobiopterin: a potential for practical implementation

Development of children's hymenoptera venom allergy quality of life scale (CHVAQoLS).

Diagnosis and venom specific immunotherapy (VIT) in allergic children in Poland--how much the current practice follows the international guidelines?

Difficulties in diagnosing febrile states in 21-month-old patient: case report

Difficulties in diagnosing febrile states in 3-month-old infant

Do infants treated in the neonatal intensive care unit need multi-stage, universal hearing screening testing?

Does aberrant architecture of nuclear LINC complex stop muscle cell development?

Erratum: Transcriptome profiling of the newborn mouse lung after hypoxia and reoxygenation: hyperoxic reoxygenation affects mTOR signaling pathway, DNA repair and JNK-pathway regulation

From a regional cohort of extremely low birth weight infants: cardiac function at the age of 7 years.

Gene expression profiling in preterm infants: new aspects of bronchopulmonary dysplasia development

Genetic Background of Immune Complications after Allogeneic Hematopoietic Stem Cell Transplantation in Children.

Genetic risk factors of bronchopulmonary dysplasia

Genotyping and minimal residual disease study in children with acute myeloid leukemia: preliminary results

Health status at the age of 5-7 years of preterm infants with and without bronchopulmonary dysplasia

Health-related quality of life in Polish adolescents with Hymenoptera venom allergy treated with venom immunotherapy.

Homozygosity for the rs9939609T allele of the FTO gene may have protective effect on becoming overweight in survivors of childhood acute lymphoblastic leukaemia

Hypoxia-reoxygenation affects whole-genome expression in the newborn eye.

Identification of deletions in children with congenital hypothyroidism and thyroid dysgenesis with the use of multiplex ligation-dependent probe amplification

Immune System Regulation Affected by a Murine Experimental Model of Bronchopulmonary Dysplasia: Genomic and Epigenetic Findings

Impact of Hymenoptera venom allergy and the effects of specific venom immunotherapy on mast cell metabolites in sensitized children.

Impact of antenatal glucocorticosteroids on whole-genome expression in preterm babies

Influence of the lactose free and lactose containing diet on prevalence of gram-negative sepsis and feeding intolerance in very low birth weight infants: double-blind randomized trial

Insulin-like growth factor-1 (IGF-1) serum concentration among 7-year-old extremely low birth weight children--an indicator of growth problems

LAT1 gene variants--potential factors influencing the clinical course of phenylketonuria

Laboratory markers of mast cell and basophil activation in monitoring rush immunotherapy in bee venom-allergic children

MTRNR2L12: A Candidate Blood Marker of Early Alzheimer's Disease-Like Dementia in Adults with Down Syndrome

Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness

Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III

New insight into the pathogenesis of retinopathy of prematurity: assessment of whole-genome expression

Ovarian hyperstimulation syndrome in newborns--a case presentation and literature review

PP-182. Impact of intrauterine growth on renal function and renal size at the age of 7years of extremely low birth weight infants (ELBW)

PP-185. Genome wide microarray analysis in very low birth weight (VLBW) infants with retinopathy of prematurity (ROP) — Preliminary results

Peritoneal drainage as an alternative to laparotomy in premature infants with complicated necrotizing enterocolitis

Pituitary enlargement in patients with PROP1 gene inactivating mutation represents cystic hyperplasia of the intermediate pituitary lobe. Histopathology and over 10 years follow-up of two patients

Plasma levels of leptin and soluble leptin receptor and polymorphisms of leptin gene -18G > A and leptin receptor genes K109R and Q223R, in survivors of childhood acute lymphoblastic leukemia

Plasma proteome changes in cord blood samples from preterm infants

Polymorphism of the thymidylate synthase gene and risk of relapse in childhood ALL.

Polymorphisms of the 5,10-methylenetetrahydrofolate and the methionine synthase reductase genes as independent risk factors for spina bifida

Preterm birth and respiratory disease in later life

Prospective plasma proteome changes in preterm infants with different gestational ages

Psychomotor development at the age of 5-7 years of very low birth weight infants

Pulmonary vascular disease is evident in gene regulation of experimental bronchopulmonary dysplasia

Relationship between Stereoscopic Vision, Visual Perception, and Microstructure Changes of Corpus Callosum and Occipital White Matter in the 4-Year-Old Very Low Birth Weight Children

Respiratory syncytial virus prophylaxis among preterm infants--four seasons' experience

Retinopathy of prematurity: is genetic predisposition an important risk factor?

Routine use of CANTAB system for detection of neuropsychological deficits in patients with PKU.

Safety and Immunogenicity of a 13-valent Pneumococcal Conjugate Vaccine Manufactured With and Without Polysorbate 80 Given to Healthy Infants at 2, 3, 4 and 12 Months of Age

Safety and immunogenicity of a DTaP-IPV(Vero) (serum-free) combination vaccine in comparison to DTaP-IPV(Mkc) when administered simultaneously with Haemophilus influenzae type B conjugate vaccine (PRP-T) in children at 2, 3.5, 5 and 16 months of age

Severe dystonic encephalopathy without hyperphenylalaninemia associated with an 18-bp deletion within the proximal GCH1 promoter

Short- and long-term impact of hyperoxia on the blood and retinal cells' transcriptome in a mouse model of oxygen-induced retinopathy

Single exon deletions in the PAH gene in Polish PKU-patients

Thanatophoric dysplasia: three patients hospitalized in PAIP in 1994-2000

The clinical role of vascular endothelial growth factor (VEGF) system in the pathogenesis of retinopathy of prematurity

The prevalence and risk factors of allergic and respiratory symptoms in a regional cohort of extremely low birth weight children (<1000 g)

Transcriptome analysis reveals dysregulation of genes involved in oxidative phosphorylation in a murine model of retinopathy of prematurity

Transcriptome profiling of the newborn mouse brain after hypoxia-reoxygenation: hyperoxic reoxygenation induces inflammatory and energy failure responsive genes.

Transcriptome profiling of the newborn mouse lung after hypoxia and reoxygenation: hyperoxic reoxygenation affects mTOR signaling pathway, DNA repair, and JNK-pathway regulation.

Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix