Lista de obras - Maciej Pronicki - Dominio Público Uruguay

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

article

A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency

scientific article published on 29 October 2009

A new look at the shoulder anterior capsuloligamentous complex complementing the insertion of the subscapularis tendon-Anatomical, histological and ultrasound studies of the lesser tuberosity enthesis.

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

ALK Expression Is a Novel Marker for the WNT-activated Type of Pediatric Medulloblastoma and an Indicator of Good Prognosis for Patients

artículo científico publicado en 2017

Abnormal calcium homeostasis in fibroblasts from patients with Leigh disease.

artículo científico publicado en 2001

Adalimumab for endoscopic and histopathological mucosal healing in paediatric patients with moderate to severe Crohn's disease

artículo científico publicado en 2016

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy

Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome

artículo científico publicado en 2016

Cardiac mitochondrial dysfunction during hyperglycemia--the role of oxidative stress and p66Shc signaling

artículo científico

Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies

artículo científico publicado en 2014

Case report: Infantile systemic hyalinosis: a dental perspective.

artículo científico publicado en 2011

Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.

artículo científico publicado en 2018

Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates.

artículo científico publicado en 2001

Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland

artículo científico publicado en 2019

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

artículo científico publicado en 2017

Contrast enhancement pattern predicts poor survival for patients with non-WNT/SHH medulloblastoma tumours

artículo científico publicado en 2015

Cytokeratin-18 and hyaluronic acid levels predict liver fibrosis in children with non-alcoholic fatty liver disease.

artículo científico publicado en 2011

Detection of new potentially pathogenic mutations in two patients with primary pigmented nodular adrenocortical disease (PPNAD) - case reports with literature review

scientific article published on 27 September 2018

Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

artículo científico publicado en 2016

Disrupted ATP synthase activity and mitochondrial hyperpolarisation-dependent oxidative stress is associated with p66Shc phosphorylation in fibroblasts of NARP patients

artículo científico publicado en 2012

Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation).

artículo científico publicado en 2002

Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene

artículo científico publicado en 2011

Ectopic virilising adrenocortical tumour in the spinal region in an 8 year-old boy: a case report and review of the literature

artículo científico publicado en 2015

Endoglin Expression and Microvessel Density as Prognostic Factors in Pediatric Rhabdomyosarcoma

artículo científico publicado en 2021

Fat and Sugar-A Dangerous Duet. A Comparative Review on Metabolic Remodeling in Rodent Models of Nonalcoholic Fatty Liver Disease

scientific article published on 24 November 2019

Fatal rituximab-associated lung injury syndrome in a patient treated with rituximab for recurrence of post-transplant nephrotic syndrome

artículo científico publicado en 2015

G8363A mitochondrial DNA mutation is not a rare cause of Leigh syndrome - clinical, biochemical and pathological study of an affected child

artículo científico publicado en 2007

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

artículo científico publicado en 2009

Gastrointestinal phenotype of fabry disease in a patient with pseudoobstruction syndrome.

artículo científico publicado en 2011

Giant Intrapericardial Myxoma Adjacent to the Left Main Coronary Artery

artículo científico publicado en 2018

Heart Transplantation and Risk of Cardiac Vasculopathy Development: What Factors Are Important?

artículo científico publicado en 2017

High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients

artículo científico publicado en 2008

Histoenzymatic methods for visualization of the activity of individual mitochondrial respiratory chain complexes in the muscle biopsies from patients with mitochondrial defects

artículo científico publicado en 2015

Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis

artículo científico publicado en 2018

Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis

artículo científico publicado en 2019

Homoplasmic MELAS A3243G mtDNA mutation in a colon cancer sample

artículo científico publicado en 2003

Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria).

artículo científico publicado en 2011

Interstitial Lung Disease in Children With Selected Primary Immunodeficiency Disorders-A Multicenter Observational Study

scientific article published on 27 August 2020

Is there a common cause for pediatric Cushing's disease?

scientific article published on 30 October 2020

Kardiologiczna manifestacja zespołu MELAS wywołana mutacją mDNA w pozycji 3243

artículo científico publicado en 2014

Lack of Impact of Presence of Positive C4d Staining in Capillaries in Myocardial Biopsies on Long-term Survival of Heart Transplant Patients.

artículo científico publicado en 2016

Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.

artículo científico publicado en 2013

Leigh disease due to SCO2 mutations revealed at extended autopsy.

artículo científico publicado en 2015

Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease

artículo científico publicado en 2008

Long-term outcome in patients after treatment for Cushing's disease in childhood

scientific article published on 12 December 2019

MBRS-18. ALK EXPRESSION AT THE PROTEIN LEVEL IS A MARKER FOR THE DIFFERENTIATION DIAGNOSIS OF THE WNT-ACTIVATED TYPE OF PEDIATRIC MEDULLOBLASTOMA

MELAS--mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome--two cases confirmed by biochemical and molecular investigations. Differential diagnosis of stroke causes

artículo científico publicado en 2002

Mitochondrial diseases in children including Leigh syndrome--biochemical and molecular background

artículo científico publicado en 2008

Modulation of mitochondrial dysfunction-related oxidative stress in fibroblasts of patients with Leigh syndrome by inhibition of prooxidative p66Shc pathway.

artículo científico publicado en 2017

Multiparametric MRI as a Non-Invasive Monitoring Tool for Children with Autoimmune Hepatitis

artículo científico publicado en 2020

Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease

artículo científico publicado en 2017

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre

artículo científico publicado en 2016

Newborn presentation of Niemann-Pick disease type C - Difficulties and limitations of diagnostic methods.

artículo científico publicado en 2017

Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy

artículo científico publicado en 2013

OLIG2 is a novel immunohistochemical marker associated with the presence of PAX3/7-FOXO1 translocation in rhabdomyosarcomas

scientific article published on 07 September 2019

Oxidative stress-dependent p66Shc phosphorylation in skin fibroblasts of children with mitochondrial disorders

artículo científico publicado en 2010

Papillary ependymoma with unique superficial cortical location: immunohistochemical and ultrastructural studies. A case report

artículo científico publicado en 2009

Pathogenesis of chronic constipation in a Polish group of paediatric patients - an attempt to create the optimal histopathological diagnostic protocol

artículo científico publicado en 2019

Polish Experience with Liver Transplantation and Post-Transplant Outcomes in Children with Urea Cycle Disorders

artículo científico publicado en 2017

Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure

artículo científico publicado en 2010

Post-Transplant Lymphoproliferative Disorder (PTLD) Manifesting in the Oral Cavity of a 13-Year-Old Liver Transplant Recipient (LTx).

artículo científico publicado en 2015

Prevalence of the Quilty effect in endomyocardial biopsy of patients after heart transplantation - from cellular rejection to antibody-mediated rejection?

artículo científico publicado en 2016

Pupillary block glaucoma in child with persistent hyperplastic primary vitreus--case report.

artículo científico publicado en 2008

Reclassification of C4d-Positive Endomyocardial Biopsy (EMB) According to New International Society for Heart and Lung Transplantation (ISHLT) 2013 Categories for Reporting Pathologic Antibody-Mediated Rejection (pAMR): Preliminary Data from a [...]

artículo científico publicado en 2015

Remodelling of skeletal muscle cells in children with SCO2 gene mutation - ultrastructural study

artículo científico publicado en 2009

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

artículo científico publicado en 2005

SURF1 missense mutations promote a mild Leigh phenotype.

artículo científico publicado en 2009

Sensorineural hearing loss in GSD type I patients. A newly recognized symptomatic association of potential clinical significance and unclear pathomechanism

scientific article published on 10 November 2021

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

TB-09CORRELATION BETWEEN LEVEL OF Shc PROTEINS AND PEDIATRIC BRAIN TUMOR MALIGNANCY.

artículo científico publicado en 2016

TBIO-13. CONSTITUTIONAL MOSAICISM OF CLINICALLY IMPORTANT GENETIC MARKERS IN PEDIATRIC BRAIN TUMORS DETECTED BY NEXT-GENERATION SEQUENCING

The impact of induction therapy with three doses of infliximab on deep histological healing in paediatric patients with active Crohn's disease.

artículo científico publicado en 2016

The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation

artículo científico publicado en 2013

Transcriptional profiling of paediatric ependymomas identifies prognostically significant groups

artículo científico publicado en 2021

Type of desmin expression in cardiomyocytes - a good marker of heart failure development in idiopathic dilated cardiomyopathy.

artículo científico publicado en 2012

Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

artículo científico publicado en 2010

Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities

artículo científico publicado en 2017

Western Diet Causes Obesity-Induced Nonalcoholic Fatty Liver Disease Development by Differentially Compromising the Autophagic Response

artículo científico publicado en 2020

Wilson disease - liver pathology.

artículo científico publicado en 2017

[Morphology of secondary cataract membrane in child post congenital cataract surgery--case report]

scientific article published on 01 January 2007

of an adolescent girl with limb-girdle muscular dystrophy type 2B – the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies

p66Shc aging protein in control of fibroblasts cell fate

artículo científico publicado en 2011

Lista de obras de Maciej Pronicki

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency

A new look at the shoulder anterior capsuloligamentous complex complementing the insertion of the subscapularis tendon-Anatomical, histological and ultrasound studies of the lesser tuberosity enthesis.

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

ALK Expression Is a Novel Marker for the WNT-activated Type of Pediatric Medulloblastoma and an Indicator of Good Prognosis for Patients

Abnormal calcium homeostasis in fibroblasts from patients with Leigh disease.

Adalimumab for endoscopic and histopathological mucosal healing in paediatric patients with moderate to severe Crohn's disease

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy

Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome

Cardiac mitochondrial dysfunction during hyperglycemia--the role of oxidative stress and p66Shc signaling

Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies

Case report: Infantile systemic hyalinosis: a dental perspective.

Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.

Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates.

Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland

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

Contrast enhancement pattern predicts poor survival for patients with non-WNT/SHH medulloblastoma tumours

Cytokeratin-18 and hyaluronic acid levels predict liver fibrosis in children with non-alcoholic fatty liver disease.

Detection of new potentially pathogenic mutations in two patients with primary pigmented nodular adrenocortical disease (PPNAD) - case reports with literature review

Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

Disrupted ATP synthase activity and mitochondrial hyperpolarisation-dependent oxidative stress is associated with p66Shc phosphorylation in fibroblasts of NARP patients

Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation).

Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene

Ectopic virilising adrenocortical tumour in the spinal region in an 8 year-old boy: a case report and review of the literature

Endoglin Expression and Microvessel Density as Prognostic Factors in Pediatric Rhabdomyosarcoma

Fat and Sugar-A Dangerous Duet. A Comparative Review on Metabolic Remodeling in Rodent Models of Nonalcoholic Fatty Liver Disease

Fatal rituximab-associated lung injury syndrome in a patient treated with rituximab for recurrence of post-transplant nephrotic syndrome

G8363A mitochondrial DNA mutation is not a rare cause of Leigh syndrome - clinical, biochemical and pathological study of an affected child

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

Gastrointestinal phenotype of fabry disease in a patient with pseudoobstruction syndrome.

Giant Intrapericardial Myxoma Adjacent to the Left Main Coronary Artery

Heart Transplantation and Risk of Cardiac Vasculopathy Development: What Factors Are Important?

High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients

Histoenzymatic methods for visualization of the activity of individual mitochondrial respiratory chain complexes in the muscle biopsies from patients with mitochondrial defects

Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis

Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis

Homoplasmic MELAS A3243G mtDNA mutation in a colon cancer sample

Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria).

Interstitial Lung Disease in Children With Selected Primary Immunodeficiency Disorders-A Multicenter Observational Study

Is there a common cause for pediatric Cushing's disease?

Kardiologiczna manifestacja zespołu MELAS wywołana mutacją mDNA w pozycji 3243

Lack of Impact of Presence of Positive C4d Staining in Capillaries in Myocardial Biopsies on Long-term Survival of Heart Transplant Patients.

Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.

Leigh disease due to SCO2 mutations revealed at extended autopsy.

Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease

Long-term outcome in patients after treatment for Cushing's disease in childhood

MBRS-18. ALK EXPRESSION AT THE PROTEIN LEVEL IS A MARKER FOR THE DIFFERENTIATION DIAGNOSIS OF THE WNT-ACTIVATED TYPE OF PEDIATRIC MEDULLOBLASTOMA

MELAS--mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome--two cases confirmed by biochemical and molecular investigations. Differential diagnosis of stroke causes

Mitochondrial diseases in children including Leigh syndrome--biochemical and molecular background

Modulation of mitochondrial dysfunction-related oxidative stress in fibroblasts of patients with Leigh syndrome by inhibition of prooxidative p66Shc pathway.

Multiparametric MRI as a Non-Invasive Monitoring Tool for Children with Autoimmune Hepatitis

Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre

Newborn presentation of Niemann-Pick disease type C - Difficulties and limitations of diagnostic methods.

Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy

OLIG2 is a novel immunohistochemical marker associated with the presence of PAX3/7-FOXO1 translocation in rhabdomyosarcomas

Oxidative stress-dependent p66Shc phosphorylation in skin fibroblasts of children with mitochondrial disorders

Papillary ependymoma with unique superficial cortical location: immunohistochemical and ultrastructural studies. A case report

Pathogenesis of chronic constipation in a Polish group of paediatric patients - an attempt to create the optimal histopathological diagnostic protocol

Polish Experience with Liver Transplantation and Post-Transplant Outcomes in Children with Urea Cycle Disorders

Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure

Post-Transplant Lymphoproliferative Disorder (PTLD) Manifesting in the Oral Cavity of a 13-Year-Old Liver Transplant Recipient (LTx).

Prevalence of the Quilty effect in endomyocardial biopsy of patients after heart transplantation - from cellular rejection to antibody-mediated rejection?

Pupillary block glaucoma in child with persistent hyperplastic primary vitreus--case report.

Reclassification of C4d-Positive Endomyocardial Biopsy (EMB) According to New International Society for Heart and Lung Transplantation (ISHLT) 2013 Categories for Reporting Pathologic Antibody-Mediated Rejection (pAMR): Preliminary Data from a [...]

Remodelling of skeletal muscle cells in children with SCO2 gene mutation - ultrastructural study

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

SURF1 missense mutations promote a mild Leigh phenotype.

Sensorineural hearing loss in GSD type I patients. A newly recognized symptomatic association of potential clinical significance and unclear pathomechanism

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

TB-09CORRELATION BETWEEN LEVEL OF Shc PROTEINS AND PEDIATRIC BRAIN TUMOR MALIGNANCY.

TBIO-13. CONSTITUTIONAL MOSAICISM OF CLINICALLY IMPORTANT GENETIC MARKERS IN PEDIATRIC BRAIN TUMORS DETECTED BY NEXT-GENERATION SEQUENCING

The impact of induction therapy with three doses of infliximab on deep histological healing in paediatric patients with active Crohn's disease.

The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation

Transcriptional profiling of paediatric ependymomas identifies prognostically significant groups

Type of desmin expression in cardiomyocytes - a good marker of heart failure development in idiopathic dilated cardiomyopathy.

Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities

Western Diet Causes Obesity-Induced Nonalcoholic Fatty Liver Disease Development by Differentially Compromising the Autophagic Response