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A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies.

artículo científico publicado en 2015

A common ancestral DNMT3A-mutated preleukemic clone giving rise to AML and MDS in an adolescent girl

artículo científico publicado en 2016

A phase I/II study of sunitinib and intensive chemotherapy in patients over 60 years of age with acute myeloid leukaemia and activating FLT3 mutations.

artículo científico publicado en 2015

A tumor-derived population (SCCOHT-1) as cellular model for a small cell ovarian carcinoma of the hypercalcemic type

artículo científico publicado en 2012

Aberrant microRNA expression pattern in myelodysplastic bone marrow cells

scientific article published on 03 June 2010

Acute Lymphoblastic Leukemia in a Patient With Constitutional Chromosome 1pter-p36.31 Duplication and 1q43-qter Deletion ⬇️

artículo científico publicado el 1 de abril de 2012

Adding dasatinib to intensive treatment in core-binding factor acute myeloid leukemia-results of the AMLSG 11-08 trial

artículo científico publicado en 2018

Angiopoietin-2 predicts disease-free survival after allogeneic stem cell transplantation in patients with high-risk myeloid malignancies

artículo científico publicado en 2008

Avoiding cytotoxicity of transposases by dose-controlled mRNA delivery

artículo científico publicado en 2011

Avoiding cytotoxicity of transposases by dose-controlled mRNA delivery

B-CLL developing in a patient with PV is not affected by V617F mutation of the Janus kinase 2

artículo científico publicado en 2006

Biclonal expansion and heterogeneous lineage involvement in a case of chronic myeloproliferative disease with concurrent MPLW515L/JAK2V617F mutation

artículo científico publicado en 2009

Bulk cell density and Wnt/TGFbeta signalling regulate mesendodermal patterning of human pluripotent stem cells

artículo científico publicado en 2016

CRISPR-Cas9-induced t(11;19)/MLL-ENL translocations initiate leukemia in human hematopoietic progenitor cells in vivo

artículo científico publicado en 2017

Characterization of High-Avidity Cytomegalovirus-Specific T Cells with Differential Tetramer Binding Coappearing after Allogeneic Stem Cell Transplantation

artículo científico publicado en 2017

Clinical and Molecular Heterogeneity of RTEL1 Deficiency

artículo científico publicado en 2017

Clonal evolution in relapsed NPM1-mutated acute myeloid leukemia ⬇️

artículo científico publicado el 23 de mayo de 2013

Clonal evolution patterns in acute myeloid leukemia with NPM1 mutation

Clonal heterogeneity in childhood myelodysplastic syndromes--challenge for the detection of chromosomal imbalances by array-CGH

artículo científico publicado en 2010

Clonal heterogeneity in the 5q- syndrome: p53 expressing progenitors prevail during lenalidomide treatment and expand at disease progression

artículo científico publicado en 2009

Comparison of different methods for telomere length measurement in whole blood and blood cell subsets: Recommendations for telomere length measurement in hematological diseases

artículo científico publicado en 2017

Complex karyotype newly defined: the strongest prognostic factor in advanced childhood myelodysplastic syndrome

artículo científico publicado en 2010

Comprehensive analysis of isolated der(1;7)(q10;p10) in a large international homogenous cohort of patients with myelodysplastic syndromes

scientific article published on 30 April 2019

Concise review: managing genotoxicity in the therapeutic modification of stem cells ⬇️

artículo científico publicado el 1 de octubre de 2011

Constitutional trisomy 8p11.21-q11.21 mosaicism: a germline alteration predisposing to myeloid leukaemia

artículo científico

Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis

artículo científico publicado en 2014

Copy number alterations in childhood acute lymphoblastic leukemia and their association with minimal residual disease

Corrigendum: Clinical and Molecular Heterogeneity of RTEL1 Deficiency

artículo científico publicado en 2017

Cryptic t(15;17) in a patient with AML M3 and a complex karyotype

artículo científico publicado en 2007

Cytogenetic follow-up by karyotyping and fluorescence in situ hybridization: implications for monitoring patients with myelodysplastic syndrome and deletion 5q treated with lenalidomide ⬇️

artículo científico publicado el 25 de noviembre de 2010

De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia

artículo científico publicado en 2020

Diagnostic value of highly-sensitive chimerism analysis after allogeneic stem cell transplantation

artículo científico publicado en 2018

Differentiation of Human Pluripotent Stem Cells into Functional Endothelial Cells in Scalable Suspension Culture.

artículo científico publicado en 2018

Effect of TP53 contact and conformational mutations on cell survival and erythropoiesis of human hematopoietic stem cells in a long term culture model

scientific article published on 06 July 2018

Efficient designer nuclease-based homologous recombination enables direct PCR screening for footprintless targeted human pluripotent stem cells

artículo científico

Epigenetic inactivation of tumour suppressor gene KLF11 in myelodysplastic syndromes*

artículo científico publicado en 2009

Establishing a murine xenograft-model for long-term analysis of factors inducing chromosomal instability in myelodysplastic syndrome: Pitfalls and successes

artículo científico publicado en 2016

Establishment and Characterization of a Pair of Patient-derived Human Non-small Cell Lung Cancer Cell Lines from a Primary Tumor and Corresponding Lymph Node Metastasis

artículo científico publicado en 2016

Establishment and Characterization of a Sclerosing Spindle Cell Rhabdomyosarcoma Cell Line with a Complex Genomic Profile

artículo científico publicado en 2020

Expression of myelopoiesis-associated microRNA in bone marrow cells of atypical chronic myeloid leukaemia and chronic myelomonocytic leukaemia ⬇️

artículo científico publicado el 15 de septiembre de 2010

Extramedullary relapse of therapy-related myelodysplastic syndrome after donor leukocyte infusion

artículo científico publicado en 2007

FLA-IDA salvage chemotherapy combined with a seven-day course of venetoclax (FLAVIDA) in patients with relapsed/refractory acute leukaemia

scientific article published on 04 November 2019

FLT3-internal tandem duplication and age are the major prognostic factors in patients with relapsed acute myeloid leukemia with normal karyotype ⬇️

artículo científico publicado el 17 de enero de 2011

Fast and efficient multitransgenic modification of human pluripotent stem cells.

scientific article published on 21 March 2014

Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes

artículo científico publicado en 2012

Front-line imatinib treatment in children and adolescents with chronic myeloid leukemia: results from a phase III trial

scientific article published on 20 June 2018

Fusion of PDGFRB to MPRIP, CPSF6, and GOLGB1 in three patients with eosinophilia-associated myeloproliferative neoplasms

artículo científico publicado en 2015

GABP is necessary for stem/progenitor cell maintenance and myeloid differentiation in human hematopoiesis and chronic myeloid leukemia

artículo científico publicado en 2016

GMP-compatible manufacturing of three iPS cell lines from human peripheral blood

scientific article published on 11 February 2019

Gene correction of HAX1 reversed Kostmann disease phenotype in patient-specific induced pluripotent stem cells

scientific article published on 02 June 2017

Gene correction of human induced pluripotent stem cells repairs the cellular phenotype in pulmonary alveolar proteinosis.

artículo científico publicado en 2014

Gene therapy for Wiskott-Aldrich syndrome--long-term efficacy and genotoxicity

artículo científico publicado en 2014

Generation of 2 iPSC clones from a patient with DNAJC12 deficiency: DHMCi003-A and DHMCi003-B

artículo científico publicado en 2019

Generation of a CFTR knock-in reporter cell line (MHHi006-A-1) from a human induced pluripotent stem cell line

artículo científico publicado en 2019

Generation of a NKX2.1 - p63 double transgenic knock-in reporter cell line from human induced pluripotent stem cells (MHHi006-A-4)

scientific article published on 19 November 2019

Generation of a NKX2.1 knock-in reporter cell line from human induced pluripotent stem cells (MHHi006-A-2)

scientific article published on 28 June 2019

Generation of a gene-corrected isogenic control iPSC line from cystic fibrosis patient-specific iPSCs homozygous for p.Phe508del mutation mediated by TALENs and ssODN.

artículo científico publicado en 2017

Generation of a human CDX2 knock-in reporter iPSC line (MHHi007-A-1) to model human trophoblast differentiation

artículo científico publicado en 2018

Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1.

artículo científico publicado en 2017

Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A

scientific article published on 11 February 2019

Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC.

artículo científico publicado en 2016

Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1

artículo científico publicado en 2019

Generation of an induced pluripotent stem cell line (MHHi018-A) from a patient with Cystic Fibrosis carrying p.Asn1303Lys (N1303K) mutation

scientific article published on 25 March 2020

Generation of non-transgenic iPS cells from human cord blood CD34+ cells under animal component-free conditions

artículo científico publicado en 2017

Generation of three induced pluripotent stem cell lines (MHHi012-A, MHHi013-A, MHHi014-A) from a family with Loeys-Dietz syndrome carrying a heterozygous p.M253I (c.759G>A) mutation in the TGFBR1 gene

scientific article published on 04 February 2020

Generation of two hiPSC clones (MHHi019-A, MHHi019-B) from a primary ciliary dyskinesia patient carrying a homozygous deletion in the NME5 gene (c.415delA (p.Ile139Tyrfs*8))

scientific article published on 07 September 2020

Generation of two hiPSC lines (MHHi016-A, MHHi016-B) from a primary ciliary dyskinesia patient carrying a homozygous 5 bp duplication (c.248_252dup (p.Gly85Cysfs*11)) in exon 1 of the CCNO gene

artículo científico publicado en 2020

Generation of two human induced pluripotent stem cell lines (MHHi017-A, MHHi017-B) from a patient with primary ciliary dyskinesia carrying a homozygous mutation (c.7915C > T [p.Arg2639*]) in the DNAH5 gene

artículo científico publicado en 2020

Genetic instability of modified stem cells - a first step towards malignant transformation? ⬇️

artículo científico publicado el 8 de marzo de 2013

Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease

artículo científico publicado en 2010

Haploinsufficiency of ETV6 and CDKN1B in patients with acute myeloid leukemia and complex karyotype

artículo científico publicado en 2014

Hematopoietic stem cell transplantation in children and young adults with secondary myelodysplastic syndrome and acute myelogenous leukemia after aplastic anemia

artículo científico publicado en 2013

High-affinity neurotrophin receptors and ligands promote leukemogenesis

scientific article published on 04 December 2008

Histiocytic sarcoma progressing from follicular lymphoma and mimicking acquired hemophagocytic lymphohistiocytosis

artículo científico publicado en 2020

Human STAT1 gain-of-function iPSC line from a patient suffering from chronic mucocutaneous candidiasis

artículo científico publicado en 2020

IDH1 mutations in patients with myelodysplastic syndromes are associated with an unfavorable prognosis.

artículo científico publicado en 2010

IDH1/2 mutations in acute myeloid leukemia patients and risk of coronary artery disease and cardiac dysfunction-a retrospective propensity score analysis

artículo científico publicado en 2020

Identification of a Cryptic Insertion ins(11;X)(q23;q28q12) Resulting in a KMT2A-FLNA Fusion in a 13-Month-Old Child with Acute Myelomonocytic Leukemia

artículo científico publicado en 2017

Impact of IDH1 R132 mutations and an IDH1 single nucleotide polymorphism in cytogenetically normal acute myeloid leukemia: SNP rs11554137 is an adverse prognostic factor

artículo científico publicado en 2010

Impact of Molecular Genetics on Outcome in Myelofibrosis Patients after Allogeneic Stem Cell Transplantation

artículo científico publicado en 2017

Impact of additional cytogenetic aberrations at diagnosis on prognosis of CML: long-term observation of 1151 patients from the randomized CML Study IV.

artículo científico publicado en 2011

Impact of gemtuzumab ozogamicin on MRD and relapse risk in NPM1 mutated AML patients: results from the AMLSG 09-09 Trial

artículo científico publicado en 2020

Impact of the revised International Prognostic Scoring System, cytogenetics and monosomal karyotype on outcome after allogeneic stem cell transplantation for myelodysplastic syndromes and secondary acute myeloid leukemia evolving from myelodysplasti

artículo científico publicado en 2014

Impact of unbalanced minor route versus major route karyotypes at diagnosis on prognosis of CML.

artículo científico publicado en 2015

Impaired formation of erythroblastic islands is associated with erythroid failure and poor prognosis in a significant proportion of patients with myelodysplastic syndromes

artículo científico publicado en 2016

Implementation of RNA sequencing and array CGH in the diagnostic workflow of the AIEOP-BFM ALL 2017 trial on acute lymphoblastic leukemia

artículo científico publicado en 2020

In Vitro and In Vivo Interspecies Chimera Assay Using Early Pig Embryos

scientific article published on 19 May 2020

In vitro modelling of familial amyloidotic polyneuropathy allows quantitative detection of transthyretin amyloid fibril-like structures in hepatic derivatives of patient-specific induced pluripotent stem cells

artículo científico publicado en 2017

Incidence and Prognostic Influence of DNMT3A Mutations in Acute Myeloid Leukemia ⬇️

artículo científico publicado el 13 de junio de 2011

Incidence and prognostic impact of cytogenetic aberrations in patients with systemic mastocytosis

artículo científico publicado en 2018

Individual outcome prediction for myelodysplastic syndrome (MDS) and secondary acute myeloid leukemia from MDS after allogeneic hematopoietic cell transplantation

artículo científico publicado en 2017

Induced Pluripotent Stem Cells Generated from Adult Bone Marrow–Derived Cells of the Nonhuman Primate (Callithrix jacchus) Using a Novel Quad-Cistronic and Excisable Lentiviral Vector ⬇️

artículo científico publicado el 1 de diciembre de 2012

Induced pluripotent stem cell line (PEIi003-A) derived from an apparently healthy male individual

scientific article published on 04 December 2019

Induced pluripotent stem cells (iPSCs) derived from a renpenning syndrome patient with c.459_462delAGAG mutation in PQBP1 (PEIi001-A)

scientific article published on 15 October 2019

Induction of Pluripotent Stem Cells from a Cynomolgus Monkey Using a Polycistronic Simian Immunodeficiency Virus–Based Vector, Differentiation Toward Functional Cardiomyocytes, and Generation of Stably Expressing Reporter Lines ⬇️

artículo científico publicado el 1 de diciembre de 2012

Jumping translocations: Short telomeres or pathogenic TP53 variants as underlying mechanism in acute myeloid leukemia and myelodysplastic syndrome?

artículo científico publicado en 2019

Lack of noncanonical RAS mutations in cytogenetically normal acute myeloid leukemia

artículo científico publicado en 2014

Lenalidomide in the context of complex karyotype or interrupted treatment: case reviews of del(5q)MDS patients with unexpected responses

artículo científico publicado en 2006

Letter to the Editor: Production of Mature Healthy Hematopoietic Cells from Induced Pluripotent Stem Cells Derived from an AML Diagnostic Sample Containing the t(8;21) Translocation

artículo científico publicado en 2015

Long-term results of a prospective randomized trial evaluating G-CSF priming in intensive induction chemotherapy followed by autologous stem cell transplantation in elderly patients with acute myeloid leukemia.

artículo científico publicado en 2013

Loss of p53 accelerates the complications of myelodysplastic syndrome in a NUP98-HOXD13–driven mouse model ⬇️

artículo científico publicado el 27 de agosto de 2012

MDR1 modulators improve the chemotherapy response of human hepatoblastoma to doxorubicin in vitro

artículo científico publicado en 2002

Measurable residual disease monitoring by NGS before allogeneic hematopoietic cell transplantation in AML

artículo científico publicado en 2018

Mesenteric chloroma with t(16;16) followed by acute myelomonocytic leukemia with clonal evolution

scientific article published on 01 December 2007

Monitoring of minimal residual disease in NPM1-mutated acute myeloid leukemia: a study from the German-Austrian acute myeloid leukemia study group

artículo científico publicado en 2011

Monosomal karyotype in adult acute myeloid leukemia: prognostic impact and outcome after different treatment strategies

scientific article published on 16 November 2011

Mutation analysis of the HAX1 gene in childhood myelodysplastic syndrome

artículo científico publicado en 2009

Mutations in the cohesin complex in acute myeloid leukemia: clinical and prognostic implications

artículo científico publicado en 2013

Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations.

artículo científico publicado en 2017

Myelodysplastic Syndromes Are Propagated by Rare and Distinct Human Cancer Stem Cells In Vivo

Myelodysplastic Syndromes Are Propagated by Rare and Distinct Human Cancer Stem Cells In Vivo

Myelodysplastic syndromes are propagated by rare and distinct human cancer stem cells in vivo

artículo científico publicado en 2014

Myelofibrosis in Philadelphia chromosome-negative myeloproliferative neoplasms is associated with aberrant karyotypes

artículo científico publicado en 2013

No evidence for ITSN1 loss in a patient with mental retardation and complex chromosomal rearrangements of 21q21-21q22.

artículo científico publicado en 2013

Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome

artículo científico publicado en 2010

Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D ⬇️

artículo científico publicado el 7 de febrero de 2012

Octasomy 21 in a patient with secondary AML after CMML: the role of acquired NRAS mutations in triggering aneuploidy

artículo científico publicado en 2018

Outcome of high-risk acute myeloid leukemia after allogeneic hematopoietic cell transplantation: negative impact of abnl(17p) and -5/5q-.

artículo científico publicado en 2012

Outcomes in RBC transfusion-dependent patients with Low-/Intermediate-1-risk myelodysplastic syndromes with isolated deletion 5q treated with lenalidomide: a subset analysis from the MDS-004 study

artículo científico publicado en 2014

P-glycoprotein modulation improves in vitro chemosensitivity in malignant pediatric liver tumors.

artículo científico publicado en 2003

Patients with del(5q) MDS who fail to achieve sustained erythroid or cytogenetic remission after treatment with lenalidomide have an increased risk for clonal evolution and AML progression

artículo científico publicado en 2009

Persistent malignant stem cells in del(5q) myelodysplasia in remission

artículo científico publicado en 2010

Possible Impact of Cytomegalovirus-Specific CD8+ T Cells on Immune Reconstitution and Conversion to Complete Donor Chimerism after Allogeneic Stem Cell Transplantation.

artículo científico publicado en 2017

Prenatal diagnosis of an epignathus associated with a 49,XXXXY karyotype--a case report

scientific article published on 03 October 2008

Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents

artículo científico publicado en 2015

Primate iPS cells as tools for evolutionary analyses

artículo científico publicado en 2014

Prognostic impact of IDH2 mutations in cytogenetically normal acute myeloid leukemia

artículo científico publicado en 2010

Prognostic importance of histone methyltransferase MLL5 expression in acute myeloid leukemia

artículo científico publicado en 2011

Prognostic significance of ASXL1 mutations in patients with myelodysplastic syndromes

artículo científico publicado en 2011

Prognostic significance of combined MN1, ERG, BAALC, and EVI1 (MEBE) expression in patients with myelodysplastic syndromes

artículo científico publicado en 2012

Prognostic significance of expression levels of stem cell regulators MSI2 and NUMB in acute myeloid leukemia

artículo científico

Promoter and lineage independent anti-silencing activity of the A2 ubiquitous chromatin opening element for optimized human pluripotent stem cell-based gene therapy.

artículo científico publicado en 2013

Pulmonary Transplantation of Human iPSC-derived Macrophages Ameliorates Pulmonary Alveolar Proteinosis.

artículo científico publicado en 2018

Recurrent involvement of heterochromatic regions in multiple myeloma-a multicolor FISH study

scientific article published on 21 December 2009

Reduced-Intensity Delayed Intensification in Standard-Risk Pediatric Acute Lymphoblastic Leukemia Defined by Undetectable Minimal Residual Disease: Results of an International Randomized Trial (AIEOP-BFM ALL 2000).

artículo científico publicado en 2017

Relapses and treatment-related events contributed equally to poor prognosis in children with ABL-class fusion positive B-cell acute lymphoblastic leukemia treated according to AIEOP-BFM protocols

scientific article published on 10 October 2019

Risk of tumor lysis syndrome in patients with acute myeloid leukemia treated with venetoclax-containing regimens without dose ramp-up

scientific article published on 23 July 2020

Routes of Clonal Evolution into Complex Karyotypes in Myelodysplastic Syndrome Patients with 5q Deletion

scientific article published on 21 October 2018

SSBP2-CSF1R is a Recurrent Fusion in B-lineage Acute Lymphoblastic Leukaemia with Diverse Genetic Presentation and Variable Outcome

artículo científico publicado en 2020

Shedding of the endothelial receptor tyrosine kinase Tie2 correlates with leukemic blast burden and outcome after allogeneic hematopoietic stem cell transplantation for AML.

artículo científico publicado en 2010

Significant inverse correlation of microRNA-150/MYB and microRNA-222/p27 in myelodysplastic syndrome

artículo científico publicado en 2009

Single nucleotide polymorphism in the mutational hotspot of WT1 predicts a favorable outcome in patients with cytogenetically normal acute myeloid leukemia

artículo científico publicado en 2009

Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency

scientific article published on 18 June 2020

TET2 mutations in cytogenetically normal acute myeloid leukemia: clinical implications and evolutionary patterns

artículo científico

TP53 Mutations in Low-Risk Myelodysplastic Syndromes With del(5q) Predict Disease Progression ⬇️

artículo científico publicado el 25 de abril de 2011

Telomere shortening and chromosomal instability in myelodysplastic syndromes

artículo científico publicado en 2010

Telomere shortening, TP53 mutations and deletions in chronic lymphocytic leukemia result in increased chromosomal instability and breakpoint clustering in heterochromatic regions

artículo científico publicado en 2017

The hypomorphic TERT A1062T variant is associated with increased treatment-related toxicity in acute myeloid leukemia

artículo científico publicado en 2017

The impact of lenalidomide exposure on response and outcomes in patients with lower-risk myelodysplastic syndromes and del(5q)

artículo científico publicado en 2018

The impact of therapy-related acute myeloid leukemia (AML) on outcome in 2853 adult patients with newly diagnosed AML.

artículo científico publicado en 2010

The value of allogeneic and autologous hematopoietic stem cell transplantation in prognostically favorable acute myeloid leukemia with double mutant CEBPA ⬇️

artículo científico publicado el 17 de julio de 2013

Update on cytogenetic and molecular changes in myelodysplastic syndromes ⬇️

artículo científico publicado el 15 de noviembre de 2011

iPSC-Derived Macrophages Effectively Treat Pulmonary Alveolar Proteinosis in Csf2rb-Deficient Mice

artículo científico publicado en 2018

p53 protein expression independently predicts outcome in patients with lower-risk myelodysplastic syndromes with del(5q).

artículo científico publicado en 2014

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