Lista de obras - Erik Sistermans - Dominio Público Uruguay

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome

artículo científico publicado en 2005

A mitochondrial tRNA Val gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes ⬇️

artículo científico publicado el 1 de enero de 1998

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

artículo científico publicado en 2006

A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation

artículo científico publicado en 2006

A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds

artículo científico publicado en 2016

A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity?

artículo científico publicado en 2012

A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene.

artículo científico publicado en 2002

A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms

artículo científico publicado en 2009

CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations

article

Cerebrotendinous xanthomatosis: report of two Brazilian brothers

artículo científico publicado en 2004

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

artículo científico publicado en 2013

Comparing methods for fetal fraction determination and quality control of NIPT samples.

artículo científico publicado en 2017

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria

artículo científico publicado en 2013

Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing

artículo científico publicado en 2012

Diagnostic genome profiling in mental retardation

artículo científico publicado en 2005

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

artículo científico publicado en 2011

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

artículo científico publicado en 2013

Feasibility of preconception screening for thalassaemia in Indonesia: exploring the opinion of Javanese mothers.

artículo científico publicado en 2011

Fetal fraction evaluation in non-invasive prenatal screening (NIPS)

scientific article published on 25 September 2018

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications

scientific article published on March 2009

Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature

article

Germline KRAS mutations cause Noonan syndrome

artículo científico publicado en 2006

Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

artículo científico publicado en 2011

Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination

artículo científico publicado en 2005

Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.

artículo científico publicado en 2006

Hypomyelination and congenital cataract: broadening the clinical phenotype

artículo científico publicado en 2011

Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches

artículo científico publicado en 2008

Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.

artículo científico publicado en 2006

Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome

artículo científico publicado en 2018

L1 retrotransposition can occur early in human embryonic development

artículo científico publicado en 2007

LEOPARD syndrome with partly normal skin and sex chromosome mosaicism

artículo científico publicado en 2007

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

artículo científico publicado en 2006

Low frequency of MECP2 mutations in mentally retarded males

artículo científico publicado en 2002

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

artículo científico publicado en 2004

Melanocortin-4 Receptor Gene Mutations in a Dutch Cohort of Obese Children

article

Monitoring standards for molecular genetic testing in the United Kingdom, the Netherlands, and Ireland

artículo científico publicado en 2006

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

artículo científico publicado en 2015

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

artículo científico publicado en 2015

PLS3 mutations in X-linked osteoporosis with fractures

artículo científico publicado en 2013

Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1

article

Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.

artículo científico publicado en 2002

Presenile Cataract: Consider Cholestanol

artículo científico publicado en 2006

Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer's Disease in a Family with Several Generations of APOE-ɛ4 Homozygosity

artículo científico publicado en 2016

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

artículo científico publicado en 2018

Recommended practice for laboratory reporting of non-invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion

artículo científico publicado en 2017

Response to letter to the editor PD-17-0390, a comment on "Comparing methods for fetal fraction determination and quality control of NIPT samples".

artículo científico publicado en 2017

Smoothing waves in array CGH tumor profiles

artículo científico publicado en 2009

Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes

artículo científico publicado en 2006

The Importance of Reliable Quality Control Materials for Noninvasive Prenatal Testing

scientific article published on 17 April 2019

The clinical benefit of genome-wide cfDNA testing cannot be extrapolated from CVS data

artículo científico publicado en 2019

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease

artículo científico publicado en 2005

Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype

artículo científico publicado en 2005

WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme.

artículo científico publicado en 2013

X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy

artículo científico publicado en 2011

p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients

artículo científico publicado en 2013

Lista de obras de Erik Sistermans

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome

A mitochondrial tRNA Val gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes ⬇️

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation

A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds

A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity?

A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene.

A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms

CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations

Cerebrotendinous xanthomatosis: report of two Brazilian brothers

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

Comparing methods for fetal fraction determination and quality control of NIPT samples.

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria

Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing

Diagnostic genome profiling in mental retardation

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

Feasibility of preconception screening for thalassaemia in Indonesia: exploring the opinion of Javanese mothers.

Fetal fraction evaluation in non-invasive prenatal screening (NIPS)

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications

Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature

Germline KRAS mutations cause Noonan syndrome

Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination

Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.

Hypomyelination and congenital cataract: broadening the clinical phenotype

Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches

Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.

Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome

L1 retrotransposition can occur early in human embryonic development

LEOPARD syndrome with partly normal skin and sex chromosome mosaicism

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

Low frequency of MECP2 mutations in mentally retarded males

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

Melanocortin-4 Receptor Gene Mutations in a Dutch Cohort of Obese Children

Monitoring standards for molecular genetic testing in the United Kingdom, the Netherlands, and Ireland

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

PLS3 mutations in X-linked osteoporosis with fractures

Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1

Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.

Presenile Cataract: Consider Cholestanol

Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer's Disease in a Family with Several Generations of APOE-ɛ4 Homozygosity

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Recommended practice for laboratory reporting of non-invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion

Response to letter to the editor PD-17-0390, a comment on "Comparing methods for fetal fraction determination and quality control of NIPT samples".

Smoothing waves in array CGH tumor profiles

Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes

The Importance of Reliable Quality Control Materials for Noninvasive Prenatal Testing

The clinical benefit of genome-wide cfDNA testing cannot be extrapolated from CVS data

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease

Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype

WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme.

X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy

p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients