J. Wierzba

发表

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

I. Krantz, R. Hennekam, M. Deardorff, 2011, European Journal of Human Genetics.

DIFFERENCES IN THE COGNITIVE FUNCTIONING OF PERSONS WITH WILLIAMS SYNDROME AND PERSONS WITH DOWN SYNDROME

J. Wierzba, Magdalena Giers, M. Bogdanowicz, 2012 .

“Pulmonary dysfunction in children with Duchenne muscular dystrophy may appear earlier than we thought – analysis using novel methodology based on z-scores."

E. Jassem, J. Wierzba, S. Małgorzewicz, 2021 .

Phenotype in SMC 1 A Phenotypes and Genotypes in Individuals with SMC 1 A Mutations

Chris, Valérie, Saskia M. J. Hopman, 2018 .

Phenotypes and genotypes in individuals with SMC1A variants

Saskia M. J. Hopman, I. Krantz, D. Horn, 2017, American journal of medical genetics. Part A.

Establishing a telerehabilitation program for patients with Duchenne muscular dystrophy in the COVID-19 pandemic

J. Wierzba, K. Śledzińska, Agnieszka Sobierajska-Rek, 2020, Wiener klinische Wochenschrift.

Down Syndrome, Increased Risk of Dementia and Lipid Disturbances

A. Kuchta, J. Wierzba, M. Jankowski, 2017, Developmental period medicine.

A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in theTGFBR2 gene substantiates interindividual clinical variability

A. Latos-Bieleńska, A. Paepe, B. Loeys, 2010, Journal of Applied Genetics.

Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual

B. Puisac, M. Teresa-Rodrigo, M. Arnedo, 2012, BMC Medical Genetics.

A girl with duplication 9q34 syndrome

M. Debiec‐Rychter, A. Wozniak, J. Limon, 2007, American journal of medical genetics. Part A.

On the significance of germline cytogenetic rearrangements at MYCN locus in neuroblastoma

J. Limon, J. Wierzba, Magdalena Koczkowska, 2013, Molecular Cytogenetics.

Periventricular heterotopia in a boy with interstitial deletion of chromosome 4p.

M. Debiec‐Rychter, A. Wozniak, J. Limon, 2008, European journal of medical genetics.

Phenylketonuria patients’ and their parents’ acceptance of the disease: multi-centre study

J. Wierzba, M. Nowacka, M. Giżewska, 2016, Quality of Life Research.

Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene

Lidia Gaffke, Karolina Pierzynowska, G. Węgrzyn, 2020, Molecular genetics & genomic medicine.

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

B. Andresen, N. Gregersen, J. Wierzba, 2010, Journal of Inherited Metabolic Disease.

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

E. Jamroz, M. Pronicki, J. Wierzba, 2013, Mitochondrion.

Left ventricular volumes and function affected by myocardial fibrosis in patients with Duchenne and Becker muscular dystrophies: a preliminary magnetic resonance study.

J. Wierzba, J. Kwiatkowska, Jarosław Meyer-Szary, 2020, Kardiologia polska.

Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome

R. Śmigiel, M. Sasiadek, J. Limon, 2016, Journal of Applied Genetics.

SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably

J. Wierzba, A. Jamsheer, A. Sowińska-Seidler, 2022, Orphanet Journal of Rare Diseases.

Expanding the clinical spectrum of the ‘HDAC8‐phenotype’ – implications for molecular diagnostics, counseling and risk prediction

T. Strom, D. Wieczorek, E. Watrin, 2016, Clinical genetics.

Lipid Profile, Lp(a) Levels, and HDL Quality in Adolescents with Down Syndrome

A. Kuchta, J. Wierzba, M. Jankowski, 2022, Journal of clinical medicine.

Transition from Childhood to Adulthood in Patients with Duchenne Muscular Dystrophy

J. Wierzba, S. Małgorzewicz, Lucyna Górska, 2020, Medicina.

Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia.

J. Limon, J. Wierzba, J. Roszkiewicz, 2001, American journal of medical genetics.

Phenylketonuria patients’ and their parents’ knowledge and attitudes to the daily diet - multi-centre study

H. Car, J. Wierzba, M. Nowacka, 2017, Nutrition & Metabolism.

Morbidity, Clinical Course and Vaccination against SARS-CoV-2 Virus in Patients with Duchenne Muscular Dystrophy: A Patient Reported Survey

E. Jassem, J. Wierzba, S. Małgorzewicz, 2021, International journal of environmental research and public health.

CHLAMYDIA INFECTION

A. L. Wong, J. Belmont, F. Lammert, 2001 .

Haemophilia A associated with Down’s syndrome

J. Wierzba, A. Balcerska, B. Kaczorowska-Hać, 2012, Annals of Hematology.

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome

M. Malinowska, J. Limon, J. Wierzba, 2013, Journal of applied genetics.

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome

M. Malinowska, J. Limon, J. Wierzba, 2012, Journal of Applied Genetics.

High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland

J. Wierzba, B. Nedoszytko, R. Nowicki, 2017, PloS one.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Joseph P. McCleery, R. Hennekam, Z. Tümer, 2018, Nature Reviews Genetics.

A case with 47,XXY,del(11)(q23) karotype-coexistence of Jacobsen and Klinefelter syndromes.

A. Wozniak, J. Limon, J. Wierzba, 2000, Genetic counseling.

Partial trisomy of distal 5q and partial monosomy of Xp as a result of mating between two translocation carriers: a female with a balanced translocation t(X;5)(p11;q31) and a male with a der(13;14)(q10;q10)--a case report and a family study.

A. Wozniak, J. Limon, J. Wierzba, 2002, Annales de genetique.

Clinical and molecular‐cytogenetic studies in seven patients with ring chromosome 18

P. Stankiewicz, J. Pilch, A. Wozniak, 2001 .

Prenatal suggestion of Pena-Shokeir I syndrome postnatally confirmed

J. Wierzba, M. Giżewska, K. Piotrowski, 2010 .

On the significance of germline cytogenetic rearrangements at MYCN locus in neuroblastoma

J. Limon, J. Wierzba, Magdalena Koczkowska, 2013, Molecular Cytogenetics.

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity

E. Obersztyn, J. Majewski, J. Wierzba, 2014, American journal of medical genetics. Part A.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

I. Krantz, H. Hakonarson, E. Roeder, 2014, Human molecular genetics.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Joseph P. McCleery, R. Hennekam, Z. Tümer, 2018, Nature Reviews Genetics.

Mutational and genotype–phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome

P. Stankiewicz, J. Lupski, J. Limon, 2006, American journal of medical genetics. Part A.

Immune Dysregulation in Patients With Chromosome 18q Deletions—Searching for Putative Loci for Autoimmunity and Immunodeficiency

M. Borowiec, R. Śmigiel, W. Młynarski, 2021, Frontiers in Immunology.

Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

P. Lapunzina, F. Santos-Simarro, B. Puisac, 2014, International journal of molecular sciences.

Cornelia de Lange syndrome: Extending the physical and psychological phenotype

R. Hennekam, D. Fitzpatrick, R. Hennekam, 2010, American journal of medical genetics. Part A.

Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18.

P. Stankiewicz, J. Pilch, A. Wozniak, 2001, American journal of medical genetics.

The importance of rare diseases: from the gene to society

Arunas Valiulis, Zachi Grossman, Feliciano Ramos, 2010, Archives of Disease in Childhood.

Syndromic neurodevelopmental disorder associated with de novo variants in DDX23

I. Thiffault, M. Lyons, R. Louie, 2021, American journal of medical genetics. Part A.

Factors affecting the prevalence of overweight and obesity in children with Down Syndrome

J. Wierzba, J. Stefanowicz, Anna Stefanowicz-Bielska, 2022, Minerva Pediatrics.

Challenges of caring for a patient with a rare disease--as demonstrated by Cornelia de Lange Syndrome.

J. Wierzba, M. Mazurkiewicz-Bełdzińska, Joanna Jabłońska-Brudło, 2015, Developmental period medicine.

Highly diverse phenotypes of mucopolysaccharidosis type IIIB sibling patients: effects of an additional mutation in the AUTS2 gene

Zuzanna Cyske, Lidia Gaffke, Karolina Pierzynowska, 2022, Journal of Applied Genetics.

[Recombinant erythropoietins--an alternative therapy to red cell blood transfusions in infants with hereditary spherocytosis].

J. Wierzba, A. Balcerska, N. Irga, 2002, Przeglad lekarski.

Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome

J. Wierzba, F. Kaiser, Alina Kuźniacka, 2018, Front. Genet..

Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome

J. Wierzba, B. Wasąg, Natalia Krawczyńska, 2019, Front. Pediatr..

Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations

I. Mihalek, R. Wevers, Z. H. Zhang, 2012, Pediatrics.

Development and validation of a method for the simultaneous analysis of fatty acid ethyl esters, ethyl sulfate and ethyl glucuronide in neonatal meconium: application in two cases of alcohol consumption during pregnancy

Á. Kot-Wasik, J. Wierzba, M. Biziuk, 2021, Analytical and Bioanalytical Chemistry.

Contributors to Preterm Birth: Data from a Single Polish Perinatal Center

J. Wierzba, M. Biziuk, M. Wiergowski, 2023, Children.

Maternal Risk Factors Associated with Limb Reduction Defects: Data from the Polish Registry of Congenital Malformations (PRCM)

A. Latos-Bieleńska, J. Wierzba, B. Więckowska, 2021, Children.

Erratum to: Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome

M. Malinowska, J. Limon, J. Wierzba, 2013, Journal of Applied Genetics.

WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability

R. Płoski, J. Wierzba, J. Kosińska, 2021, Genes.

Arthrogryposis in infancy, multidisciplinary approach: case report

J. Wierzba, I. Kowalski, K. Zaborowska-Sapeta, 2013, BMC Pediatrics.

Factors affecting the prevalence of overweight and obesity in children with Down syndrome.

J. Wierzba, J. Stefanowicz, Anna Stefanowicz-Bielska, 2020, Minerva pediatrica.

Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases

J. Wierzba, A. Tylki-Szymańska, G. Baydakova, 2021, Diagnostics.

Genetic background of congenital conotruncal heart defects--a study of 45 families.

J. Wierzba, J. Kwiatkowska, J. Ereciński, 2007, Kardiologia polska.

Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients

J. Wierzba, B. Wasąg, Jacek Jasiecki, 2019, BMC Medical Genetics.

Universal Health Coverage “Leave No Child Behind “

V. Tasic, A. Mazur, D. Neubauer, 2020, Pediatria Polska.

MEDICAL STUDENTS’ KNOWLEDGE AND SENSITIVITY TO DYSMORPHIC FEATURES OF A CHILD WITH CRANIOFACIAL MICROSOMIA (CFM)

J. Wierzba, A. Rudnik, Arkadiusz Mański, 2020 .

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

J. Rosenfeld, I. Krantz, Ankita Patel, 2019, Genetics in Medicine.

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

A. Latos-Bieleńska, E. Obersztyn, J. Pilch, 2021, Journal of Applied Genetics.

Overgeneralisation Effect in Trait Inferencing About a Child with Craniofacial Microsomia by Medical Students and Child’s Relatives

J. Wierzba, Arkadiusz Mański, K. Milska, 2020, Journal of mother and child.

Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype—phenotype maps

A. Latos-Bieleńska, A. Woźniak, M. Smyk, 2010, Journal of Applied Genetics.

Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome

R. Tenconi, J. Wierzba, A. Selicorni, 2021, Cell death discovery.

Lithium ameliorates Cornelia de Lange syndrome associated phenotypes in experimental models

R. Tenconi, J. Wierzba, A. Selicorni, 2020, bioRxiv.

Adult with rare genetic disorder — principles of follow up in Cornelia de Lange Syndrome

J. Limon, J. Wierzba, Wierzba, 2010 .

DIAGNOSIS OF CHILDREN WITH SANFILIPPO DISEASE – PSYCHOLOGICAL, SOCIAL AND MOTOR ASSESSMENT

J. Wierzba, A. Rudnik, Arkadiusz Mański, 2020 .

Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland

J. Wierzba, B. Kieć-Wilk, A. Tylki-Szymańska, 2023, Biomedicines.

The Epidermal Transcriptome Analysis of a Novel c.639_642dup LORICRIN Variant-Delineation of the Loricrin Keratoderma Pathology

A. Jezela-Stanek, B. Wojtaś, B. Gielniewski, 2023, International journal of molecular sciences.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Rebecca C. Spillmann, Denise L. Perry, J. Rosenfeld, 2019, Genetics in Medicine.

Clinical course and cardiovascular outcomes in patients with the long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.

J. Wierzba, D. Kozłowski, J. Sykut-Cegielska, 2017, Cardiology journal.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Joseph P. McCleery, R. Hennekam, Z. Tümer, 2018, Nature Reviews Genetics.

Chronic Idiopathic Intestinal Pseudo-obstruction

A. L. Wong, J. Belmont, M. Dichgans, 2011 .

[Cutaneous amyloidoses].

A. L. Wong, J. Belmont, D. Roden, 1990, Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete.

Hypomyelinating leukodystrophies — a molecular insight into the white matter pathology

A. Charzewska, J. Wierzba, D. Hoffman-Zacharska, 2016, Clinical genetics.

[Chronic venous insufficiency].

V Wienert, G Hauer, A Lentner, 1996, Der Chirurg; Zeitschrift fur alle Gebiete der operativen Medizen.

Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL.

P. Stankiewicz, Z. Xia, J. Lupski, 2010, European journal of medical genetics.

Analysis of Dietary Habits and Nutritional Status of Children with Down Syndrome in the Context of Lipid and Oxidative Stress Parameters

A. Kuchta, J. Wierzba, S. Małgorzewicz, 2022, Nutrients.

Congenital rubella syndrome

S. Lalani, K. Chayama, A. Cleare, 2020, Definitions.

Congenital dysfibrinogenemia.

S. Lalani, K. Chayama, A. Cleare, 1984, Current problems in clinical biochemistry.

PERCEPTION OF CHILDREN WITH CRANIOFACIAL MICROSOMIA ABNORMALITIES BY THEIR CLOSE RELATIVES

J. Wierzba, Arkadiusz Mański, K. Milska, 2020 .

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)

S. Lalani, K. Chayama, M. Vikkula, 1999, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Hypomyelinating leukodystrophies — a molecular insight into the white matter pathology

A. Charzewska, J. Wierzba, D. Hoffman-Zacharska, 2016, Clinical genetics.

Clinical presentation of 13 children with alkaptonuria

Zuzanna Cyske, Lidia Gaffke, Karolina Pierzynowska, 2023, Journal of inherited metabolic disease.

Prematurity and Low Birth Weight and Their Impact on Childhood Growth Patterns and the Risk of Long-Term Cardiovascular Sequelae

J. Wierzba, I. Jańczewska, Iwona Domżalska-Popadiuk, 2023, Children.

Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations

I. Mihalek, R. Wevers, Z. H. Zhang, 2012, Pediatrics.