List of works - Małgorzata Krajewska-Walasek

1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-additional case and data's review

scientific article published on 19 November 2012

11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.

scientific article

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

article

A case described as translocation 15;15 revised: maternal 15 UPD, resulting from isochromosome 15, in a PWS patient

scientific article published on 01 April 2005

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

scientific article

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

scientific article published in August 2013

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

scientific article published on 09 September 2016

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

scientific article

Abstracts

article by L. Bie et al published 1 April 2013 in Neuro-Oncology

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

scientific article published on 31 March 2016

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

scientific article published on 26 October 2007

Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene

article

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

scientific article

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

scientific article published in September 2017

Biochemical and DNA markers of X-linked hypophosphataemic rickets: a study of sporadic cases

scientific article published on 01 January 1992

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

scientific article

CHILD syndrome: clinical picture and diagnostic procedures

scientific article published on 01 May 2007

Cardiac involvement in Coffin-Lowry syndrome

scientific article published on 01 May 1988

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.

scientific article

Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: frequency, associated cardiovascular anomalies, and outcome following cardiac surgery

scientific article published on 03 January 2008

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

scientific article published on 12 May 2021

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

scientific article published on 4 February 2016

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

scientific article published on 01 September 2019

Cryptic x; autosome translocation in a boy--delineation of the phenotype.

scientific article published in March 2011

DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.

scientific article published in December 2004

DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes.

scientific article published on 19 October 2010

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

scientific article

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

scientific article published on 16 June 2010

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

scientific article published on 18 April 2016

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

scientific article published on July 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.

scientific article

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

scientific article

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

scientific article published on 15 July 2010

Genetic causes of syndromic craniosynostoses

scientific article published on 11 October 2012

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

scientific article

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

scientific article

High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions.

scientific article published in May 1998

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

scientific article published on 26 June 2008

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

scientific article published on 5 May 2010

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

scientific article published on 01 April 2012

Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.

scientific article

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

scientific article published on 21 April 2022

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.

scientific article published on 11 November 2014

Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the TBX5 and the TBX3 genes.

scientific article published on 21 September 2016

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

scientific article published on 8 April 2010

MEDULLOBLASTOMA

Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant

scientific article published on 29 February 2016

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

scientific article published on 12 January 2011

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

scientific article

Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.

scientific article published in January 2006

Melnick-Needles syndrome

scientific article published on 01 May 1994

Melnick-Needles syndrome in males

scientific article published on 01 May 1987

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

scientific article published on 17 February 2012

Molecular investigations of mitochondrial deletions: evaluating the usefulness of different genetic tests

scientific article published on 02 July 2012

Molecular studies of Polish patients with respiratory chain complex I deficiency

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

scientific article

No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction

scientific article published on 2 October 2015

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

scientific article published on 23 December 2016

Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication

scientific article

Phenotype expansion and development in Kosaki Overgrowth Syndrome

scientific article published on 11 December 2017

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

scientific article published on January 2015

RSK2 mutation co‐segregates with X‐linked intellectual disability and attenuated Coffin–Lowry phenotype in a three‐generation family ⬇️

scientific article published on March 17, 2013

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

scientific article published on 01 January 2020

Recombinant growth hormone therapy in a girl with Costello syndrome: a 4-year observation

scientific article published on 26 January 2016

Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations

scientific article published on 31 January 2007

Ring chromosome 4 : 46,XY, r(4) (p16q35) in a boy

SURF1 missense mutations promote a mild Leigh phenotype.

scientific article published on August 2009

Schimke immuno-osseous dysplasia: two cases

scientific article published on 10 December 2002

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.

scientific article published in April 1989

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

scientific article

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

article

The first case of a patient with de novo partial distal 16q tetrasomy and a data's review

scientific article published on 08 August 2014

The frequency of NBN molecular variants in pediatric astrocytic tumors.

scientific article

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

scientific article

The mutational spectrum in Waardenburg syndrome.

scientific article

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

scientific article

The new molecular p.M177T identified in two unrelated patients with clinical features of SCO2-dependent cytochrome c oxidase deficiency

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).

scientific article published on 10 February 2015

Trends in prenatal diagnosis of non-specific multiple malformations disorders with reference to the own experience and research study on Smith-Lemli-Opitz syndrome.

scientific article published in August 2015

Trisomy 22pter-q12.3 presenting with hepatic dysfunction variability of cat-eye syndrome

scientific article published on 01 January 2009

Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients

scientific article published in March 2005

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

scientific article published on 20 November 2010

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome

scientific article

X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene

scientific article

List of works by Małgorzata Krajewska-Walasek

1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-additional case and data's review

11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.

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

A case described as translocation 15;15 revised: maternal 15 UPD, resulting from isochromosome 15, in a PWS patient

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

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

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

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

Abstracts

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

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene

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

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

Biochemical and DNA markers of X-linked hypophosphataemic rickets: a study of sporadic cases

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

CHILD syndrome: clinical picture and diagnostic procedures

Cardiac involvement in Coffin-Lowry syndrome

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.

Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: frequency, associated cardiovascular anomalies, and outcome following cardiac surgery

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

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

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

Cryptic x; autosome translocation in a boy--delineation of the phenotype.

DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.

DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes.

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

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

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

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.

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

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

Genetic causes of syndromic craniosynostoses

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

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions.

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

Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.

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

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.

Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the TBX5 and the TBX3 genes.

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

MEDULLOBLASTOMA

Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant

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.

Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.

Melnick-Needles syndrome

Melnick-Needles syndrome in males

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

Molecular investigations of mitochondrial deletions: evaluating the usefulness of different genetic tests

Molecular studies of Polish patients with respiratory chain complex I deficiency

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

No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction

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

Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication

Phenotype expansion and development in Kosaki Overgrowth Syndrome

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

RSK2 mutation co‐segregates with X‐linked intellectual disability and attenuated Coffin–Lowry phenotype in a three‐generation family ⬇️

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

Recombinant growth hormone therapy in a girl with Costello syndrome: a 4-year observation

Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations

Ring chromosome 4 : 46,XY, r(4) (p16q35) in a boy

SURF1 missense mutations promote a mild Leigh phenotype.

Schimke immuno-osseous dysplasia: two cases

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.

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

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

The first case of a patient with de novo partial distal 16q tetrasomy and a data's review

The frequency of NBN molecular variants in pediatric astrocytic tumors.

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

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

The mutational spectrum in Waardenburg syndrome.