Lista de obras - Eva Klopocki - Dominio Público Uruguay

A BACH2-BCL2L1 fusion gene resulting from a t(6;20)(q15;q11.2) chromosomal translocation in the lymphoma cell line BLUE-1.

artículo científico publicado en 2011

A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.

artículo científico publicado en 2013

A complex phenotype with cystic renal disease.

artículo científico publicado en 2006

A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures

artículo científico publicado en 2008

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

artículo científico publicado en 2007

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.

artículo científico publicado en 2008

A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.

artículo científico publicado en 2006

A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome

artículo científico publicado en 2016

Aberrant methylation of the Wnt antagonist SFRP1 in breast cancer is associated with unfavourable prognosis

artículo científico publicado en 2006

Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.

artículo científico publicado en 2008

Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia-derived childhood acute myeloid leukemia with biallelic FANCD1/BRCA2 disruption

artículo científico publicado en 2007

Analysis of relative gene dosage and expression differences of the paralogs RABL2A and RABL2B by Pyrosequencing

artículo científico

Array-CGH — eine Methode für Humangenetik und Diagnostik

Beidseitige fetale Radiusaplasie – Ein Fallbericht

CNVs of noncoding cis-regulatory elements in human disease

artículo científico publicado en 2013

Catel-Manzke syndrome: two new patients and a critical review of the literature

artículo científico publicado en 2008

Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion

artículo científico publicado en 2013

Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: Phenotypic and genotypic findings

article by Anja Hagen et al published 3 November 2011 in American Journal of Medical Genetics

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

artículo científico publicado en 2012

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

artículo científico publicado en 2007

Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis

artículo científico publicado en 2010

Copy-number variations, noncoding sequences, and human phenotypes

artículo científico publicado en 2011

DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics

artículo científico publicado en 2014

Das 2q37-Deletionssyndrom

De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation

artículo científico publicado en 2009

De novo partial deletion in GRID2 presenting with complicated spastic paraplegia

artículo científico publicado en 2013

Deletion and point mutations of PTHLH cause brachydactyly type E.

artículo científico publicado en 2010

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly

artículo científico publicado en 2012

Deletions of chromosome 8p and loss of sFRP1 expression are progression markers of papillary bladder cancer

artículo científico publicado en 2004

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

artículo científico publicado en 2014

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

artículo científico publicado en 2010

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

artículo científico publicado en 2015

Distinct secreted Frizzled receptor protein 1 staining pattern in patients with hyperplastic polyposis coli syndrome.

artículo científico publicado en 2004

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

artículo científico publicado en 2009

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

artículo científico publicado en 2011

Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.

artículo científico publicado en 2009

ECM alterations in Fndc3a (Fibronectin Domain Containing Protein 3A) deficient zebrafish cause temporal fin development and regeneration defects

artículo científico publicado en 2019

Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia.

artículo científico publicado en 2016

Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young

artículo científico publicado en 2009

Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature

scientific article published on 17 January 2008

Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.

scientific article published on 13 June 2013

Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications

Frequent loss of SFRP1 expression in multiple human solid tumours: association with aberrant promoter methylation in renal cell carcinoma.

artículo científico publicado en 2007

Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literature

artículo científico publicado en 2007

HNF1B Abnormality (Mature-Onset Diabetes of the Young 5) in Children and Adolescents: High prevalence in autoantibody-negative type 1 diabetes with kidney defects

Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma

artículo científico publicado en 2012

Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus

artículo científico publicado en 2012

Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings

artículo científico publicado en 2011

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe

scientific journal article

ITIH5, a novel member of the inter-alpha-trypsin inhibitor heavy chain family is downregulated in breast cancer

artículo científico publicado en 2004

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

artículo científico publicado en 2010

Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.

artículo científico publicado en 2007

Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism

artículo científico publicado en 2014

Investigation of alpl expression and Tnap-activity in zebrafish implies conserved functions during skeletal and neuronal development

scientific article published on 07 August 2020

Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.

artículo científico publicado en 2014

Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants

artículo científico publicado en 2012

Loss of SFRP1 is associated with breast cancer progression and poor prognosis in early stage tumors

artículo científico publicado en 2004

Madelung deformity in a girl with a novel and de novo mutation in theGNASgene

artículo científico publicado en 2011

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.

artículo científico publicado en 2010

Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature.

artículo científico publicado en 2011

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

artículo científico publicado en 2015

Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.

artículo científico publicado en 2014

Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia

artículo científico publicado en 2012

Molecular cytogenetic characterisation of an interstitial deletion 12p detected by prenatal diagnosis

artículo científico publicado en 2007

Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model

artículo científico publicado en 2015

Molekulare Karyotypisierung

Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family

artículo científico publicado en 2017

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

artículo científico publicado en 2008

Negative enrichment by immunomagnetic nanobeads for unbiased characterization of circulating tumor cells from peripheral blood of cancer patients

artículo científico publicado en 2011

Novel mutations of the PRKAR1A gene in patients with acrodysostosis

artículo científico publicado en 2013

On the traces of tcf12: Investigation of the gene expression pattern during development and cranial suture patterning in zebrafish (Danio rerio).

artículo científico publicado en 2019

P4: Ulnar-mammary syndrome with mental retardation caused by a novel 0.8 Mb deletion encompassing the TBX3 gene

article

Partial trisomy 1q41-qter and partial trisomy 9pter-9q21.32 in a newborn infant: an array CGH analysis and review.

artículo científico publicado en 2013

Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish

artículo científico publicado en 2012

Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4 ⬇️

artículo científico publicado en 2012

Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci.

artículo científico publicado en 2012

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

artículo científico publicado en 2012

Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37.

artículo científico publicado en 2017

Spalthand-/Spaltfußfehlbildungen

Systematic identification and molecular characterization of genes differentially expressed in breast and ovarian cancer

artículo científico publicado en 2005

Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities.

artículo científico publicado en 2007

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

artículo científico publicado en 2011

Transport governs flow-enhanced cell tethering through L-selectin at threshold shear.

artículo científico publicado en 2006

Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4

artículo científico publicado en 2008

Two patterns of thrombopoietin signaling suggest no coupling between platelet production and thrombopoietin reactivity in thrombocytopenia-absent radii syndrome

artículo científico publicado en 2011

Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene

artículo científico publicado en 2006

Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A

artículo científico publicado en 2013

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

artículo científico publicado en 2013

Lista de obras de Eva Klopocki

A BACH2-BCL2L1 fusion gene resulting from a t(6;20)(q15;q11.2) chromosomal translocation in the lymphoma cell line BLUE-1.

A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.

A complex phenotype with cystic renal disease.

A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.

A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.

A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome

Aberrant methylation of the Wnt antagonist SFRP1 in breast cancer is associated with unfavourable prognosis

Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.

Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia-derived childhood acute myeloid leukemia with biallelic FANCD1/BRCA2 disruption

Analysis of relative gene dosage and expression differences of the paralogs RABL2A and RABL2B by Pyrosequencing

Array-CGH — eine Methode für Humangenetik und Diagnostik

Beidseitige fetale Radiusaplasie – Ein Fallbericht

CNVs of noncoding cis-regulatory elements in human disease

Catel-Manzke syndrome: two new patients and a critical review of the literature

Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion

Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: Phenotypic and genotypic findings

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis

Copy-number variations, noncoding sequences, and human phenotypes

DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics

Das 2q37-Deletionssyndrom

De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation

De novo partial deletion in GRID2 presenting with complicated spastic paraplegia

Deletion and point mutations of PTHLH cause brachydactyly type E.

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly

Deletions of chromosome 8p and loss of sFRP1 expression are progression markers of papillary bladder cancer

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

Distinct secreted Frizzled receptor protein 1 staining pattern in patients with hyperplastic polyposis coli syndrome.

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.

ECM alterations in Fndc3a (Fibronectin Domain Containing Protein 3A) deficient zebrafish cause temporal fin development and regeneration defects

Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia.

Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young

Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature

Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.

Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications

Frequent loss of SFRP1 expression in multiple human solid tumours: association with aberrant promoter methylation in renal cell carcinoma.

Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literature

HNF1B Abnormality (Mature-Onset Diabetes of the Young 5) in Children and Adolescents: High prevalence in autoantibody-negative type 1 diabetes with kidney defects

Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma

Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus

Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe

ITIH5, a novel member of the inter-alpha-trypsin inhibitor heavy chain family is downregulated in breast cancer

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.

Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism

Investigation of alpl expression and Tnap-activity in zebrafish implies conserved functions during skeletal and neuronal development

Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.

Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants

Loss of SFRP1 is associated with breast cancer progression and poor prognosis in early stage tumors

Madelung deformity in a girl with a novel and de novo mutation in theGNASgene

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.

Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature.

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.

Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia

Molecular cytogenetic characterisation of an interstitial deletion 12p detected by prenatal diagnosis

Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model

Molekulare Karyotypisierung

Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

Negative enrichment by immunomagnetic nanobeads for unbiased characterization of circulating tumor cells from peripheral blood of cancer patients

Novel mutations of the PRKAR1A gene in patients with acrodysostosis

On the traces of tcf12: Investigation of the gene expression pattern during development and cranial suture patterning in zebrafish (Danio rerio).

P4: Ulnar-mammary syndrome with mental retardation caused by a novel 0.8 Mb deletion encompassing the TBX3 gene

Partial trisomy 1q41-qter and partial trisomy 9pter-9q21.32 in a newborn infant: an array CGH analysis and review.

Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish

Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4 ⬇️

Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci.

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37.

Spalthand-/Spaltfußfehlbildungen