Lista de obras - Karen Sermon - Dominio Público Uruguay

A High Proliferation Rate is Critical for Reproducible and Standardized Embryoid Body Formation from Laminin-521-Based Human Pluripotent Stem Cell Cultures

artículo científico publicado en 2016

A specific increase in inositol 1,4,5-trisphosphate 3-kinase B expression upon differentiation of human embryonic stem cells.

artículo científico publicado en 2012

Accurate and comprehensive analysis of single nucleotide variants and large deletions of the human mitochondrial genome in DNA and single cells.

artículo científico publicado en 2017

Adaptation of the primer extension preamplification (PEP) reaction for preimplantation diagnosis: single blastomere analysis using short PEP protocols

scientific article published on 01 March 1996

Adjuncts in the IVF laboratory: where is the evidence for 'add-on' interventions?

artículo científico publicado en 2017

Amplification of exon 11 of the gene for the alpha-chain of beta-N-acetylhexosaminidase in single human blastomeres

artículo científico publicado en 1995

BMP4 plays a role in apoptosis during human preimplantation development

artículo científico publicado en 2018

CTG repeat instability in a human embryonic stem cell line carrying the myotonic dystrophy type 1 mutation.

artículo científico publicado en 2008

Central data collection on PGD and screening

article

Characterisation of a cDNA for porcine PDH-E1 alpha and comparison with the human cDNA.

artículo científico publicado en 1990

Characterization of CD30 expression in human embryonic stem cell lines cultured in serum-free media and passaged mechanically.

artículo científico publicado en 2009

Chromosome constitution of human embryos generated after in vitro maturation including 3-isobutyl-1-methylxanthine in the oocyte collection medium.

artículo científico publicado en 2014

Clinical application of preimplantation diagnosis for myotonic dystrophy

scientific article published on 01 October 1997

Clinical experience with preimplantation genetic diagnosis and intracytoplasmic sperm injection.

artículo científico publicado en 1998

Clinical outcome of preimplantation genetic diagnosis for cystic fibrosis: the Brussels' experience.

artículo científico publicado en 2007

Concurrent whole-genome haplotyping and copy-number profiling of single cells

artículo científico publicado en 2015

CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy

artículo científico publicado en 2017

Creation of a registry for human embryonic stem cells carrying an inherited defect: joint collaboration between ESHRE and hESCreg.

artículo científico publicado en 2009

Current controversies in prenatal diagnosis 1: is stem cell therapy ready for human fetuses?

artículo científico publicado en 2011

Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and Embryology

scholarly article by Joyce C Harper et al published 1 November 2013 in European Journal of Human Genetics

Derivation of human embryonic stem cell lines from embryos obtained after IVF and after PGD for monogenic disorders.

artículo científico publicado en 2005

Detecting mosaicism in trophectoderm biopsies.

artículo científico publicado en 2017

Detection of Heteroplasmic Variants in the Mitochondrial Genome through Massive Parallel Sequencing

publication published on 05 July 2019

Diagnostic efficiency, embryonic development and clinical outcome after the biopsy of one or two blastomeres for preimplantation genetic diagnosis.

artículo científico publicado en 2007

ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'.

artículo científico publicado en 2004

ESHRE PGD Consortium data collection IV: May-December 2001.

artículo científico publicado en 2004

ESHRE PGD Consortium data collection V: cycles from January to December 2002 with pregnancy follow-up to October 2003.

artículo científico publicado en 2005

ESHRE PGD Consortium data collection VI: cycles from January to December 2003 with pregnancy follow-up to October 2004.

artículo científico publicado en 2006

ESHRE PGD Consortium data collection VIII: cycles from January to December 2005 with pregnancy follow-up to October 2006.

artículo científico publicado en 2008

ESHRE Preimplantation Genetic Diagnosis (PGD) Consortium: preliminary assessment of data from January 1997 to September 1998. ESHRE PGD Consortium Steering Committee.

artículo científico publicado en 1999

Efficient differentiation of human embryonic stem cells into a homogeneous population of osteoprogenitor-like cells

artículo científico publicado en 2008

Embryo implantation after biopsy of one or two cells from cleavage-stage embryos with a view to preimplantation genetic diagnosis

artículo científico publicado en 2000

Endogenous suppression of WNT signalling in human embryonic stem cells leads to low differentiation propensity towards definitive endoderm

artículo científico publicado en 2021

Epithelial-mesenchymal transition process in human embryonic stem cells cultured in feeder-free conditions.

artículo científico publicado en 2006

Establishment of hESC lines from the inner cell mass of blastocyst-stage embryos and single blastomeres of 4-cell stage embryos.

artículo científico publicado en 2012

Evolution of aneuploidy up to Day 4 of human preimplantation development.

artículo científico publicado en 2013

Expression of adhesion and extracellular matrix genes in human blastocysts upon attachment in a 2D co-culture system

artículo científico publicado en 2018

FGF signaling via MAPK is required early and improves Activin A-induced definitive endoderm formation from human embryonic stem cells.

artículo científico publicado en 2012

Female human pluripotent stem cells rapidly lose X chromosome inactivation marks and progress to a skewed methylation pattern during culture

artículo científico publicado en 2016

Fluorescent PCR and automated fragment analysis for the clinical application of preimplantation genetic diagnosis of myotonic dystrophy (Steinert's disease)

scientific article published on 01 August 1998

Fluorescent PCR and automated fragment analysis in preimplantation genetic diagnosis for 21-hydroxylase deficiency in congenital adrenal hyperplasia

scientific article published on 01 July 1999

GSK-3-specific inhibitor-supplemented hESC medium prevents the epithelial-mesenchymal transition process and the up-regulation of matrix metalloproteinases in hESCs cultured in feeder-free conditions.

artículo científico publicado en 2008

Gain of 20q11.21 in Human Pluripotent Stem Cells Impairs TGF-β-Dependent Neuroectodermal Commitment

scientific article published on 06 June 2019

Genetic and epigenetic factors which modulate differentiation propensity in human pluripotent stem cells

artículo científico publicado en 2018

Genome engineering through CRISPR/Cas9 technology in the human germline and pluripotent stem cells

artículo científico publicado en 2016

Higher-Density Culture in Human Embryonic Stem Cells Results in DNA Damage and Genome Instability.

artículo científico publicado en 2016

Human embryonic stem cell lines derived from single blastomeres of two 4-cell stage embryos.

artículo científico publicado en 2009

Human embryonic stem cells commonly display large mitochondrial DNA deletions

scientific article published on 01 January 2013

Human embryonic stem cells show low-grade microsatellite instability

artículo científico publicado en 2014

Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation ⬇️

artículo científico publicado el 8 de octubre de 2010

Improving clinical preimplantation genetic diagnosis for cystic fibrosis by duplex PCR using two polymorphic markers or one polymorphic marker in combination with the detection of the DeltaF508 mutation.

artículo científico publicado en 2003

In silico discovery of a FOXM1 driven embryonal signaling pathway in therapy resistant neuroblastoma tumors

scientific article published in Scientific Reports

Iodine Dose of Administered Contrast Media Affects the Level of Radiation-Induced DNA Damage During Cardiac CT Scans

artículo científico publicado en 2019

Markers that define stemness in ESC are unable to identify the totipotent cells in human preimplantation embryos.

artículo científico publicado en 2008

Microarray analysis reveals abnormal chromosomal complements in over 70% of 14 normally developing human embryos.

artículo científico publicado en 2012

Mitotic spindle disruption in human preimplantation embryos activates the spindle assembly checkpoint but not apoptosis until Day 5 of development.

artículo científico publicado en 2017

Noggin, retinoids, and fibroblast growth factor regulate hepatic or pancreatic fate of human embryonic stem cells.

artículo científico publicado en 2010

Novel technologies emerging for preimplantation genetic diagnosis and preimplantation genetic testing for aneuploidy.

artículo científico publicado en 2016

Novel universal approach for preimplantation genetic diagnosis of beta-thalassaemia in combination with HLA matching of embryos.

artículo científico publicado en 2004

Optimization and evaluation of single-cell whole-genome multiple displacement amplification.

artículo científico publicado en 2006

PGD for autosomal dominant polycystic kidney disease type 1

artículo científico publicado en 2004

PGD for monogenic disorders: aspects of molecular biology.

artículo científico publicado en 2009

PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome.

artículo científico publicado en 2001

Preimplantation diagnosis

artículo científico publicado en 1992

Preimplantation diagnosis for Charcot-Marie-Tooth type 1A

artículo científico publicado en 1999

Preimplantation diagnosis for Huntington's disease (HD): clinical application and analysis of the HD expansion in affected embryos.

artículo científico publicado en 1998

Preimplantation genetic diagnosis

scientific article published on 01 May 2004

Preimplantation genetic diagnosis

scientific article published on 01 January 2006

Preimplantation genetic diagnosis for Charcot-Marie-Tooth disease type 1A.

artículo científico publicado en 2003

Preimplantation genetic diagnosis for Huntington's disease with exclusion testing.

artículo científico publicado en 2002

Preimplantation genetic diagnosis for fragile Xa syndrome: difficult but not impossible.

artículo científico publicado en 2002

Preimplantation genetic diagnosis for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

scientific article published on 01 December 2000

Preimplantation genetic diagnosis for myotonic dystrophy type 1: upon request to child

artículo científico publicado en 2009

Preimplantation genetic diagnosis for neurofibromatosis type 1

artículo científico publicado en 2005

Preimplantation genetic diagnosis for sickle-cell anemia and for beta-thalassemia

scientific article published on 01 March 2001

Preimplantation genetic diagnosis for spinal and bulbar muscular atrophy (SBMA)

artículo científico publicado en 2001

Preimplantation genetic diagnosis of Marfan syndrome with the use of fluorescent polymerase chain reaction and the Automated Laser Fluorescence DNA Sequencer.

artículo científico publicado en 1999

Preimplantation genetic diagnosis: current status and new developments ⬇️

artículo científico publicado el 1 de agosto de 1997

Preimplantation genetic screening 2.0: the theory

artículo científico publicado en 2016

Preimplantation genetic testing for aneuploidy by microarray analysis of polar bodies in advanced maternal age: a randomized clinical trial

artículo científico publicado en 2018

Random Mutagenesis, Clonal Events, and Embryonic or Somatic Origin Determine the mtDNA Variant Type and Load in Human Pluripotent Stem Cells

artículo científico publicado en 2018

Real and expected delivery rates of patients with myotonic dystrophy undergoing intracytoplasmic sperm injection and preimplantation genetic diagnosis.

artículo científico publicado en 2008

Recent advances and prospects in the differentiation of pancreatic cells from human embryonic stem cells.

artículo científico publicado en 2010

Recent developments in genetics and medically-assisted reproduction: from research to clinical applications†‡

scientific article published on 04 December 2017

Review: preimplantation diagnosis of inherited disease.

artículo científico publicado en 1996

Role of BMP signaling in pancreatic progenitor differentiation from human embryonic stem cells.

artículo científico publicado en 2013

Screening ethnically diverse human embryonic stem cells identifies a chromosome 20 minimal amplicon conferring growth advantage

artículo científico publicado en 2011

Selection of reference genes in mouse embryos and in differentiating human and mouse ES cells.

artículo científico publicado en 2006

Sertoli cell-conditioned medium induces germ cell differentiation in human embryonic stem cells ⬇️

artículo científico publicado el 12 de febrero de 2011

Simultaneous amplification of the two most frequent mutations of infantile Tay-Sachs disease in single blastomeres

scientific article published on 01 August 1995

Single cell polymerase chain reaction for preimplantation genetic diagnosis: methods, strategies, and limitations

artículo científico publicado en 2007

Single embryo transfer in preimplantation genetic diagnosis cycles for women <36 years does not reduce delivery rate.

artículo científico publicado en 2007

Single-cell chromosomal imbalances detection by array CGH

scientific article published on 12 May 2006

Stem cells in reproductive medicine: ready for the patient?

artículo científico publicado en 2015

The Brussels' experience of more than 5 years of clinical preimplantation genetic diagnosis

artículo científico publicado en 2000

The Role of D4Z4-Encoded Proteins in the Osteogenic Differentiation of Mesenchymal Stromal Cells Isolated from Bone Marrow.

artículo científico publicado en 2015

The role of methylation, DNA polymorphisms and microRNAs on HLA-G expression in human embryonic stem cells

artículo científico publicado en 2017

The role of the reprogramming method and pluripotency state in gamete differentiation from patient-specific human pluripotent stem cells

scientific article published on 01 April 2018

The why, the how and the when of PGS 2.0: current practices and expert opinions of fertility specialists, molecular biologists, and embryologists

artículo científico publicado en 2016

Transplantation of human embryonic stem cell-derived pancreatic endoderm reveals a site-specific survival, growth, and differentiation

artículo científico publicado en 2013

Uncovering low-level mosaicism in human embryonic stem cells using high throughput single cell shallow sequencing

artículo científico publicado en 2019

What next for preimplantation genetic screening?

artículo científico publicado en 2008

When does germ cell loss and fibrosis occur in patients with Klinefelter syndrome?

artículo científico publicado en 2018

β-N-Acetythexosaminidase activity in mouse oocytes and preimplantation embryos ⬇️

artículo científico publicado el 1 de febrero de 1991

Lista de obras de Karen Sermon

A High Proliferation Rate is Critical for Reproducible and Standardized Embryoid Body Formation from Laminin-521-Based Human Pluripotent Stem Cell Cultures

A specific increase in inositol 1,4,5-trisphosphate 3-kinase B expression upon differentiation of human embryonic stem cells.

Accurate and comprehensive analysis of single nucleotide variants and large deletions of the human mitochondrial genome in DNA and single cells.

Adaptation of the primer extension preamplification (PEP) reaction for preimplantation diagnosis: single blastomere analysis using short PEP protocols

Adjuncts in the IVF laboratory: where is the evidence for 'add-on' interventions?

Amplification of exon 11 of the gene for the alpha-chain of beta-N-acetylhexosaminidase in single human blastomeres

BMP4 plays a role in apoptosis during human preimplantation development

CTG repeat instability in a human embryonic stem cell line carrying the myotonic dystrophy type 1 mutation.

Central data collection on PGD and screening

Characterisation of a cDNA for porcine PDH-E1 alpha and comparison with the human cDNA.

Characterization of CD30 expression in human embryonic stem cell lines cultured in serum-free media and passaged mechanically.

Chromosome constitution of human embryos generated after in vitro maturation including 3-isobutyl-1-methylxanthine in the oocyte collection medium.

Clinical application of preimplantation diagnosis for myotonic dystrophy

Clinical experience with preimplantation genetic diagnosis and intracytoplasmic sperm injection.

Clinical outcome of preimplantation genetic diagnosis for cystic fibrosis: the Brussels' experience.

Concurrent whole-genome haplotyping and copy-number profiling of single cells

CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy

Creation of a registry for human embryonic stem cells carrying an inherited defect: joint collaboration between ESHRE and hESCreg.

Current controversies in prenatal diagnosis 1: is stem cell therapy ready for human fetuses?

Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and Embryology

Derivation of human embryonic stem cell lines from embryos obtained after IVF and after PGD for monogenic disorders.

Detecting mosaicism in trophectoderm biopsies.

Detection of Heteroplasmic Variants in the Mitochondrial Genome through Massive Parallel Sequencing

Diagnostic efficiency, embryonic development and clinical outcome after the biopsy of one or two blastomeres for preimplantation genetic diagnosis.

ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'.

ESHRE PGD Consortium data collection IV: May-December 2001.

ESHRE PGD Consortium data collection V: cycles from January to December 2002 with pregnancy follow-up to October 2003.

ESHRE PGD Consortium data collection VI: cycles from January to December 2003 with pregnancy follow-up to October 2004.

ESHRE PGD Consortium data collection VIII: cycles from January to December 2005 with pregnancy follow-up to October 2006.

ESHRE Preimplantation Genetic Diagnosis (PGD) Consortium: preliminary assessment of data from January 1997 to September 1998. ESHRE PGD Consortium Steering Committee.

Efficient differentiation of human embryonic stem cells into a homogeneous population of osteoprogenitor-like cells

Embryo implantation after biopsy of one or two cells from cleavage-stage embryos with a view to preimplantation genetic diagnosis

Endogenous suppression of WNT signalling in human embryonic stem cells leads to low differentiation propensity towards definitive endoderm

Epithelial-mesenchymal transition process in human embryonic stem cells cultured in feeder-free conditions.

Establishment of hESC lines from the inner cell mass of blastocyst-stage embryos and single blastomeres of 4-cell stage embryos.

Evolution of aneuploidy up to Day 4 of human preimplantation development.

Expression of adhesion and extracellular matrix genes in human blastocysts upon attachment in a 2D co-culture system

FGF signaling via MAPK is required early and improves Activin A-induced definitive endoderm formation from human embryonic stem cells.

Female human pluripotent stem cells rapidly lose X chromosome inactivation marks and progress to a skewed methylation pattern during culture

Fluorescent PCR and automated fragment analysis for the clinical application of preimplantation genetic diagnosis of myotonic dystrophy (Steinert's disease)

Fluorescent PCR and automated fragment analysis in preimplantation genetic diagnosis for 21-hydroxylase deficiency in congenital adrenal hyperplasia

GSK-3-specific inhibitor-supplemented hESC medium prevents the epithelial-mesenchymal transition process and the up-regulation of matrix metalloproteinases in hESCs cultured in feeder-free conditions.

Gain of 20q11.21 in Human Pluripotent Stem Cells Impairs TGF-β-Dependent Neuroectodermal Commitment

Genetic and epigenetic factors which modulate differentiation propensity in human pluripotent stem cells

Genome engineering through CRISPR/Cas9 technology in the human germline and pluripotent stem cells

Higher-Density Culture in Human Embryonic Stem Cells Results in DNA Damage and Genome Instability.

Human embryonic stem cell lines derived from single blastomeres of two 4-cell stage embryos.

Human embryonic stem cells commonly display large mitochondrial DNA deletions

Human embryonic stem cells show low-grade microsatellite instability

Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation ⬇️

Improving clinical preimplantation genetic diagnosis for cystic fibrosis by duplex PCR using two polymorphic markers or one polymorphic marker in combination with the detection of the DeltaF508 mutation.

In silico discovery of a FOXM1 driven embryonal signaling pathway in therapy resistant neuroblastoma tumors

Iodine Dose of Administered Contrast Media Affects the Level of Radiation-Induced DNA Damage During Cardiac CT Scans

Markers that define stemness in ESC are unable to identify the totipotent cells in human preimplantation embryos.

Microarray analysis reveals abnormal chromosomal complements in over 70% of 14 normally developing human embryos.

Mitotic spindle disruption in human preimplantation embryos activates the spindle assembly checkpoint but not apoptosis until Day 5 of development.

Noggin, retinoids, and fibroblast growth factor regulate hepatic or pancreatic fate of human embryonic stem cells.

Novel technologies emerging for preimplantation genetic diagnosis and preimplantation genetic testing for aneuploidy.

Novel universal approach for preimplantation genetic diagnosis of beta-thalassaemia in combination with HLA matching of embryos.

Optimization and evaluation of single-cell whole-genome multiple displacement amplification.

PGD for autosomal dominant polycystic kidney disease type 1

PGD for monogenic disorders: aspects of molecular biology.

PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome.

Preimplantation diagnosis

Preimplantation diagnosis for Charcot-Marie-Tooth type 1A

Preimplantation diagnosis for Huntington's disease (HD): clinical application and analysis of the HD expansion in affected embryos.

Preimplantation genetic diagnosis

Preimplantation genetic diagnosis

Preimplantation genetic diagnosis for Charcot-Marie-Tooth disease type 1A.

Preimplantation genetic diagnosis for Huntington's disease with exclusion testing.

Preimplantation genetic diagnosis for fragile Xa syndrome: difficult but not impossible.

Preimplantation genetic diagnosis for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

Preimplantation genetic diagnosis for myotonic dystrophy type 1: upon request to child

Preimplantation genetic diagnosis for neurofibromatosis type 1

Preimplantation genetic diagnosis for sickle-cell anemia and for beta-thalassemia

Preimplantation genetic diagnosis for spinal and bulbar muscular atrophy (SBMA)

Preimplantation genetic diagnosis of Marfan syndrome with the use of fluorescent polymerase chain reaction and the Automated Laser Fluorescence DNA Sequencer.

Preimplantation genetic diagnosis: current status and new developments ⬇️

Preimplantation genetic screening 2.0: the theory