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Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome

Human mutation, 2013-12, Vol.34 (12), p.1589-1596

2013

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A role for Separase in telomere protection

Nature communications, 2016-01, Vol.7 (1), p.10405-10405, Article 10405

2016

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Association Between Physical Activity and the Risk of Burnout in Health Care Workers: Systematic Review

JMIR public health and surveillance, 2024-03, Vol.10, p.e49772-e49772

2024

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Deciphering the molecular machinery of stem cells: a look at the neoblast gene expression profile

Genome biology, 2007-04, Vol.8 (4), p.R62-R62, Article R62

2007

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A conserved role for the mitochondrial citrate transporter Sea/SLC25A1 in the maintenance of chromosome integrity

Human molecular genetics, 2009-11, Vol.18 (21), p.4180-4188

2009

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Claspin inhibition leads to fragile site expression

Genes chromosomes & cancer, 2009-12, Vol.48 (12), p.1083-1090

2009

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The dark side of cohesin: The carcinogenic point of view

Mutation research, 2011-11, Vol.728 (3), p.81-87

2011

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expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer

Human mutation, 2010-06, Vol.31 (6), p.623-630

2010

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Mutant cohesin drives chromosomal instability in early colorectal adenomas

Human molecular genetics, 2014-12, Vol.23 (25), p.6773-6778

2014

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SMC1B is present in mammalian somatic cells and interacts with mitotic cohesin proteins

Scientific reports, 2015-12, Vol.5 (1), p.18472-18472, Article 18472

2015

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Spectrum and consequences of SMC1A mutations: The unexpected involvement of a core component of cohesin in human disease

Human mutation, 2010, Vol.31 (1), p.5-10

2010

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Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome

Scientific reports, 2015-11, Vol.5 (1), p.16803-16803, Article 16803

2015

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Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

Human molecular genetics, 2009-02, Vol.18 (3), p.418-427

2009

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Proteomic Profile Identifies Dysregulated Pathways in Cornelia de Lange Syndrome Cells with Distinct Mutations in SMC1A and SMC3 Genes

Journal of proteome research, 2012-12, Vol.11 (12), p.6111-6123

2012

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A mortalin-like gene is crucial for planarian stem cell viability

Developmental biology, 2009-10, Vol.334 (1), p.109-118

2009

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SMC1A codon 496 mutations affect the cellular response to genotoxic treatments

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.224-228

2012

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CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome

American journal of medical genetics. Part A, 2014-01, Vol.164A (1), p.177-181

2014

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Djeyes absent (Djeya) controls prototypic planarian eye regeneration by cooperating with the transcription factor Djsix-1

Developmental biology, 2004-05, Vol.269 (2), p.346-359

2004

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Expression of hsp90 mediates cytoprotective effects in the gastrodermis of planarians

Cell stress & chaperones, 2011-01, Vol.16 (1), p.33-39

2011

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Two msh/msx-related genes, Djmsh1 and Djmsh2, contribute to the early blastema growth during planarian head regeneration

The International journal of developmental biology, 2008, Vol.52 (7), p.943-952

2008

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Expression of a retinal homeobox (Rx) gene during planarian regeneration

The International journal of developmental biology, 2008, Vol.52 (8), p.1113-1117

2008

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Erratum to “ Djeyes absent ( Djeya) controls prototypic planarian eye regeneration by cooperating with the transcription factor Djsix-1” [Dev. Biol. 269 (2004) 346–359]

Developmental biology, 2004-09, Vol.273 (1), p.172-173

2004

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Genetic regulation of planarian head morphogenesis during regeneration

The Italian journal of zoology, 2006-11, Vol.73 (4), p.295-301

2006

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SMC1A codon 496 mutations affect the cellular response to genotoxic treatments

American Journal of Medical Genetics Part A, 2012, Vol.158A (1), p.224-228

2012

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Chromosomes and genetic organization of rdna in planarians of the genus schmidtea (platyhelminthes, tricladida)

The Italian journal of zoology, 2005-01, Vol.72 (4), p.261-264

2005

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Cell Cycle Proteins - Genetics
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Amino Acid Sequence
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Chromosomal Proteins, Non-Histone - Metabolism
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Cornelia De Lange Syndrome
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De Lange Syndrome - Genetics
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Molecular Sequence Data
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Rna Interference
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Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome

A role for Separase in telomere protection

Association Between Physical Activity and the Risk of Burnout in Health Care Workers: Systematic Review

Deciphering the molecular machinery of stem cells: a look at the neoblast gene expression profile

A conserved role for the mitochondrial citrate transporter Sea/SLC25A1 in the maintenance of chromosome integrity

Claspin inhibition leads to fragile site expression

The dark side of cohesin: The carcinogenic point of view

expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer

Mutant cohesin drives chromosomal instability in early colorectal adenomas

SMC1B is present in mammalian somatic cells and interacts with mitotic cohesin proteins

Spectrum and consequences of SMC1A mutations: The unexpected involvement of a core component of cohesin in human disease

Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

Proteomic Profile Identifies Dysregulated Pathways in Cornelia de Lange Syndrome Cells with Distinct Mutations in SMC1A and SMC3 Genes

A mortalin-like gene is crucial for planarian stem cell viability

SMC1A codon 496 mutations affect the cellular response to genotoxic treatments

CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome

Djeyes absent (Djeya) controls prototypic planarian eye regeneration by cooperating with the transcription factor Djsix-1

Expression of hsp90 mediates cytoprotective effects in the gastrodermis of planarians

Two msh/msx-related genes, Djmsh1 and Djmsh2, contribute to the early blastema growth during planarian head regeneration

Expression of a retinal homeobox (Rx) gene during planarian regeneration

Erratum to “ Djeyes absent ( Djeya) controls prototypic planarian eye regeneration by cooperating with the transcription factor Djsix-1” [Dev. Biol. 269 (2004) 346–359]

Genetic regulation of planarian head morphogenesis during regeneration

SMC1A codon 496 mutations affect the cellular response to genotoxic treatments

Chromosomes and genetic organization of rdna in planarians of the genus schmidtea (platyhelminthes, tricladida)

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