Lista de obras - Krzysztof Szczałuba - Dominio Público Uruguay

A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.

artículo científico publicado en 2017

A family with paroxysmal nonkinesigenic dyskinesia: genetic and treatment issues.

artículo científico publicado en 2009

A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2

scientific article published on 14 April 2020

A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

article

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

scientific article published on 12 March 2020

Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement

artículo científico publicado en 2014

Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies

artículo científico publicado en 2016

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

artículo científico publicado en 2013

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

artículo científico publicado en 2012

Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies

artículo científico publicado en 2016

Autism spectrum disorders - epidemiology, symptoms, comorbidity and diagnosis

artículo científico publicado en 2014

Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith–Kingsmore Phenotype with Recurrent Hypoglycemia—A Novel Phenotype and a Further Proof for Testing of an Affected Tissue

artículo científico publicado en 2021

Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).

artículo científico publicado en 2008

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

artículo científico publicado en 2021

Clinico-pathological correlation in case of BRAT1 mutation

artículo científico publicado en 2018

Cytogenomic Evaluation of Children with Congenital Anomalies: Critical Implications for Diagnostic Testing and Genetic Counseling

artículo científico publicado en 2016

Diagnostics of the genetic causes of autism spectrum disorders - a clinical geneticist's view

artículo científico publicado en 2014

FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects

artículo científico publicado en 2019

Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures

artículo científico publicado en 2012

High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate

artículo científico publicado en 2015

Homozygous deletion in the SMN1 gene in asymptomatic individual - genetic counselling issues in SMA-risk families

artículo científico publicado el 1 de abril de 2011

Intracardiac tumor as a rare manifestation of genetic syndromes-presentation of a family with Gorlin syndrome and a literature review

scientific article published on 22 September 2020

Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression.

artículo científico publicado en 2017

Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients

article

Long-term outcomes of bilateral pallidal stimulation for primary generalised dystonia

artículo científico publicado en 2014

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

scientific article published on 21 November 2018

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

Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects

scientific article published on 04 July 2019

Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines

artículo científico publicado en 2018

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

artículo científico publicado en 2012

Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review

artículo científico publicado en 2017

Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression

scientific article published on 25 September 2018

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

artículo científico publicado en 2018

SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression

artículo científico publicado en 2016

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.

artículo científico publicado en 2010

Successful bilateral pallidal stimulation in a patient with isolated lower limb dystonia coexistent with Langerhans cell histiocytosis and coeliac disease ⬇️

artículo científico publicado el 1 de septiembre de 2011

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

artículo científico publicado en 2006

The analysis of genetic aberrations in children with inherited neurometabolic and neurodevelopmental disorders.

artículo científico publicado en 2014

The role of genetic factors and pre- and perinatal influences in the etiology of autism spectrum disorders - indications for genetic referral

artículo científico publicado en 2016

The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children.

artículo científico publicado en 2014

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

artículo científico publicado en 2020

[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues]

artículo científico publicado en 2011

[Balanced chromosomal rearrangements resulting in intellectual disability. An analysis of 22 cases with application of CGH and FISH methods]

artículo científico publicado en 2009

[Clinical manifestation of chromosome 2 long arm terminal deletion--presentation of four cases]

scientific article published on 01 January 2007

[Clinical picture and molecular analysis in a familial case of Nail-Patella Syndrome--identification of a new mutation in LMX1B gene]

scientific article published on 01 April 2005

[Primary torsion dystonia--clinical and molecular aspects]

scientific article published on 01 January 2006

Lista de obras de Krzysztof Szczałuba

A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.

A family with paroxysmal nonkinesigenic dyskinesia: genetic and treatment issues.

A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2

A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement

Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies

Autism spectrum disorders - epidemiology, symptoms, comorbidity and diagnosis

Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith–Kingsmore Phenotype with Recurrent Hypoglycemia—A Novel Phenotype and a Further Proof for Testing of an Affected Tissue

Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).

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

Clinico-pathological correlation in case of BRAT1 mutation

Cytogenomic Evaluation of Children with Congenital Anomalies: Critical Implications for Diagnostic Testing and Genetic Counseling

Diagnostics of the genetic causes of autism spectrum disorders - a clinical geneticist's view

FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects

Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures

High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate

Homozygous deletion in the SMN1 gene in asymptomatic individual - genetic counselling issues in SMA-risk families

Intracardiac tumor as a rare manifestation of genetic syndromes-presentation of a family with Gorlin syndrome and a literature review

Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression.

Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients

Long-term outcomes of bilateral pallidal stimulation for primary generalised dystonia

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

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

Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects

Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines

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

Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review

Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.

Successful bilateral pallidal stimulation in a patient with isolated lower limb dystonia coexistent with Langerhans cell histiocytosis and coeliac disease ⬇️

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

The analysis of genetic aberrations in children with inherited neurometabolic and neurodevelopmental disorders.

The role of genetic factors and pre- and perinatal influences in the etiology of autism spectrum disorders - indications for genetic referral

The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children.

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

[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues]

[Balanced chromosomal rearrangements resulting in intellectual disability. An analysis of 22 cases with application of CGH and FISH methods]

[Clinical manifestation of chromosome 2 long arm terminal deletion--presentation of four cases]

[Clinical picture and molecular analysis in a familial case of Nail-Patella Syndrome--identification of a new mutation in LMX1B gene]

[Primary torsion dystonia--clinical and molecular aspects]