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1. Full Text A novel predictive model of outcome in acute myeloid leukemia without favorable karyotype based on treatment strategy, karyotype and FLT3‐ITD mutational status
by Begna, Kebede H and Ali, Walid and Gangat, Naseema and Elliott, Michelle A and Al‐Kali, Aref and Litzow, Mark R and Hook, C. Christopher and Wolanskyj, Alexandra P and Hogan, William J and Patnaik, Mrinal M and Pardanani, Animesh and Zblewski, Darci L and Chen, Dong and He, Rong and Viswanatha, David and Hanson, Curtis A and Ketterling, Rhett P and Tefferi, Ayalew
American Journal of Hematology, ISSN 0361-8609, 12/2018, Volume 93, Issue 12, pp. E401 - E404
NORMAL CYTOGENETICS | YOUNGER ADULTS | CLASSIFICATION | CEBPA MUTATIONS | HEMATOLOGY | Prognosis | Humans | Middle Aged | Male | Treatment Outcome | Remission Induction | Transplantation, Homologous | Leukemia, Myeloid, Acute - mortality | Stem Cell Transplantation | Young Adult | fms-Like Tyrosine Kinase 3 - genetics | Leukemia, Myeloid, Acute - diagnosis | Survival Analysis | Aged, 80 and over | Adult | Female | Aged | Mutation | Karyotype | Leukemia, Myeloid, Acute - therapy | Leukemia, Myeloid, Acute - genetics | Chromosomes
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2. Full Text Increased nuchal translucency with normal karyotype
by Souka, Athena P and von Kaisenberg, Constantin S and Hyett, Jonathan A and Sonek, Jiri D and Nicolaides, Kypros H
American Journal of Obstetrics and Gynecology, ISSN 0002-9378, 2005, Volume 192, Issue 4, pp. 1005 - 1021
Increased fetal nuchal translucency (NT) thickness between 11 and 14 weeks' gestation is a common phenotypic expression of chromosomal abnormalities, including... 
Nuchal translucency | Genetic syndrome | Pathophysiology | Structural anomaly | Karyotype | CONGENITAL DIAPHRAGMATIC-HERNIA | 10-14 WEEKS GESTATION | structural anomaly | FIRST-TRIMESTER DIAGNOSIS | MAJOR CARDIAC DEFECTS | ATRIAL-NATRIURETIC-PEPTIDE | LEMLI-OPITZ-SYNDROME | TRANSABDOMINAL FETAL ECHOCARDIOGRAPHY | EARLY PRENATAL-DIAGNOSIS | OBSTETRICS & GYNECOLOGY | karyotype | nuchal translucency | SPINAL MUSCULAR-ATROPHY | CHROMOSOMALLY NORMAL FETUSES | pathophysiology | genetic syndrome | Congenital Abnormalities - epidemiology | Follow-Up Studies | Risk Assessment | Humans | Male | Fetal Diseases - diagnostic imaging | Pregnancy Trimester, First | Incidence | Developmental Disabilities - epidemiology | Fetal Diseases - genetics | Pregnancy | Congenital Abnormalities - genetics | Fetal Death | Crown-Rump Length | Ultrasonography, Prenatal | Karyotyping | Nuchal Translucency Measurement | Chromosome Disorders - diagnosis | Female | Developmental Disabilities - diagnosis | Infant, Newborn | Fetus | Medical examination | Diagnosis | Growth | Growth retardation
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3. Full Text Chromosomal translocations and karyotype complexity in chronic lymphocytic leukemia: A systematic reappraisal of classic cytogenetic data
by Baliakas, Panagiotis and Iskas, Michalis and Gardiner, Anne and Davis, Zadie and Plevova, Karla and Nguyen‐Khac, Florence and Malcikova, Jitka and Anagnostopoulos, Achilles and Glide, Sharron and Mould, Sarah and Stepanovska, Kristina and Brejcha, Martin and Belessi, Chrysoula and Davi, Frederic and Pospisilova, Sarka and Athanasiadou, Anastasia and Stamatopoulos, Kostas and Oscier, David and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Uppsala universitet and Hematologi och immunologi
American Journal of Hematology, ISSN 0361-8609, 03/2014, Volume 89, Issue 3, pp. 249 - 255
The significance of chromosomal translocations (CTRAs) and karyotype complexity (KC) in chronic lymphocytic leukemia (CLL) remains uncertain. To gain insight... 
B-CELLS | CLL | INDUCED CYTIDINE DEAMINASE | POOR-PROGNOSIS | NORMAL FISH | TP53 MUTATION | NOTCH1 MUTATIONS | GENOMIC ABERRATIONS | PROGNOSTIC SUBGROUPS | HEMATOLOGY | SEQUENCING REVEALS | Chromosome Deletion | Translocation, Genetic | Interphase | Chromosome Breakpoints | Chromosomes, Human - genetics | Humans | Kaplan-Meier Estimate | Proportional Hazards Models | In Situ Hybridization, Fluorescence | Male | Leukemia, Lymphocytic, Chronic, B-Cell - genetics | Chromosomes, Human - ultrastructure | Cell Culture Techniques - methods | Leukemia, Lymphocytic, Chronic, B-Cell - pathology | Karyotyping - methods | Gene Rearrangement, B-Lymphocyte, Heavy Chain | Chromosome Aberrations | Female | Tumor Cells, Cultured | Karyotype | Chronic lymphocytic leukemia | Genetic aspects | Chromosomes | Cancer | Clinical Medicine | Medical and Health Sciences | Hematology | Hematologi | Klinisk medicin | Medicin och hälsovetenskap
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4. Full Text Increased nuchal translucency in fetuses with a normal karyotype-diagnosis and management An observational study
by Socolov, D and Socolov, R and Gorduza, VE and Butureanu, T and Stanculescu, R and Carauleanu, A and Pavaleanu, I
MEDICINE, ISSN 0025-7974, 07/2017, Volume 96, Issue 29, p. e7521
The use of nuchal translucency (NT) in 1992 by Nicolaides et al was a major breakthrough in screening for chromosomal aneuploidies at the end of the first... 
MEDICINE, GENERAL & INTERNAL | fetal nuchal translucency | PREGNANCY OUTCOMES | CHROMOSOMALLY NORMAL FETUSES | prenatal diagnostic | karyotype markers | Amniocentesis | Romania | Follow-Up Studies | Humans | Fetal Diseases - therapy | Aneuploidy | Fetal Diseases - diagnostic imaging | Fetal Diseases - genetics | Pregnancy | Young Adult | Karyotyping | Nuchal Translucency Measurement | Adult | Female | Retrospective Studies | Pregnancy Outcome | Usage | Ultrasound imaging | Diagnosis | Health aspects
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5. Full Text Decreased survival in normal karyotype AML with single‐nucleotide polymorphisms in genes encoding the AraC metabolizing enzymes cytidine deaminase and 5′‐nucleotidase
by Falk, Ingrid Jakobsen and Fyrberg, Anna and Paul, Esbjörn and Nahi, Hareth and Hermanson, Monica and Rosenquist, Richard and Höglund, Martin and Palmqvist, Lars and Stockelberg, Dick and Wei, Yuan and Gréen, Henrik and Lotfi, Kourosh and Science for Life Laboratory, SciLifeLab and Centra and Skolan för bioteknologi (BIO) and KTH and Genteknologi
American Journal of Hematology, ISSN 0361-8609, 12/2013, Volume 88, Issue 12, pp. 1001 - 1006
De novo acute myeloid leukemia with normal karyotype (NK‐AML) comprises a large group of patients with no common cytogenetic alterations and with a large... 
PROGNOSTIC IMPLICATIONS | INTERNAL TANDEM DUPLICATION | Nothing to report | IN-VITRO | DEOXYCYTIDINE KINASE | C SENSITIVITY | ACUTE MYELOGENOUS LEUKEMIA | INTRACELLULAR CONCENTRATIONS | NORMAL CYTOGENETICS | ACUTE MYELOID-LEUKEMIA | FLT3 MUTATIONS | HEMATOLOGY | 5'-Nucleotidase - genetics | Prognosis | Antimetabolites, Antineoplastic - pharmacokinetics | Humans | Middle Aged | Male | Tandem Repeat Sequences | Antimetabolites, Antineoplastic - administration & dosage | Young Adult | fms-Like Tyrosine Kinase 3 - genetics | Cytarabine - pharmacokinetics | DNA Methylation | Aged, 80 and over | Leukemia, Myeloid, Acute - drug therapy | Adult | Female | Idarubicin - administration & dosage | Leukemia, Myeloid, Acute - surgery | Deoxycytidine Kinase - genetics | Neoplasm Proteins - genetics | Daunorubicin - administration & dosage | Topoisomerase I Inhibitors - pharmacokinetics | Cytidine Deaminase - genetics | Kaplan-Meier Estimate | Proportional Hazards Models | Hematopoietic Stem Cell Transplantation | Combined Modality Therapy | Cytarabine - administration & dosage | Leukemia, Myeloid, Acute - mortality | Drug Resistance, Neoplasm - genetics | Antineoplastic Combined Chemotherapy Protocols - therapeutic use | Adolescent | Survival Analysis | Aged | Inactivation, Metabolic - genetics | Polymorphism, Single Nucleotide | Karyotype | Leukemia, Myeloid, Acute - genetics | Clinical Medicine | Medical and Health Sciences | Hematology | Hematologi | Medicin och hälsovetenskap | Klinisk medicin
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6. Full Text Nucleophosmin gene mutations are predictors of favorable prognosis in acute myelogenous leukemia with a normal karyotype
by Schnittger, Susanne and Schoch, Claudia and Kern, Wolfgang and Mecucci, Cristina and Tschulik, Claudia and Martelli, Massimo F and Haferlach, Torsten and Hiddemann, Wolfgang and Falini, Brunangelo
Blood, ISSN 0006-4971, 12/2005, Volume 106, Issue 12, pp. 3733 - 3739
Nucleophosmin (NPM1) exon-12 gene mutations are the hallmark of a large acute myelogenous leukemia (AML) subgroup with normal karyotype, but their prognostic... 
AML | INTERNAL TANDEM DUPLICATION | CYTOPLASMIC NUCLEOPHOSMIN | ADULT PATIENTS | THERAPY | FLT3 | NORMAL CYTOGENETICS | ACUTE MYELOID-LEUKEMIA | CEBPA MUTATIONS | HEMATOLOGY | MINIMAL RESIDUAL DISEASE | Prognosis | Humans | Middle Aged | Male | Leukemia, Myeloid, Acute - mortality | Disease-Free Survival | DNA Mutational Analysis | Adolescent | Survival Analysis | Aged, 80 and over | Adult | Female | Aged | Mutation | Nuclear Proteins - genetics | Leukemia, Myeloid, Acute - genetics
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7. Full Text RUNX1 mutations are frequent in de novo AML with noncomplex karyotype and confer an unfavorable prognosis
by Schnittger, Susanne and Dicker, Frank and Kern, Wolfgang and Wendland, Nicole and Sundermann, Jana and Alpermann, Tamara and Haferlach, Claudia and Haferlach, Torsten
Blood, ISSN 0006-4971, 02/2011, Volume 117, Issue 8, pp. 2348 - 2357
Analyses of 164 RUNX1 mutations (RUNX1mut) in 147 of 449 patients (32.7%) with normal karyotype or noncomplex chromosomal imbalances were performed. RUNX1mut... 
GENE-MUTATIONS | CYTOPLASMIC NUCLEOPHOSMIN | AML1/PEBP2-ALPHA-B GENE | FAVORABLE PROGNOSIS | ACUTE MYELOGENOUS LEUKEMIA | NORMAL CYTOGENETICS | ACUTE MYELOID-LEUKEMIA | AML1/RUNX1 POINT MUTATIONS | HEMATOLOGY | MYELODYSPLASTIC SYNDROME | PARTIAL TANDEM DUPLICATION | Prognosis | Humans | Middle Aged | Kaplan-Meier Estimate | Survival Rate | Young Adult | fms-Like Tyrosine Kinase 3 - genetics | Leukemia, Myeloid, Acute - diagnosis | Karyotyping | Adolescent | Aged, 80 and over | Adult | Aged | Leukocyte Count | Cytogenetic Analysis | Mutation | Core Binding Factor Alpha 2 Subunit - genetics | Inverted Repeat Sequences | Leukemia, Myeloid, Acute - classification | Leukemia, Myeloid, Acute - genetics
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8. Full Text Novel GTF2I-PDGFRB and IKZF1-TYW1 fusions in pediatric leukemia with normal karyotype
by Panagopoulos, Ioannis and Brunetti, Marta and Stoltenberg, Margrethe and Strandabø, Rønnaug A. U and Staurseth, Julie and Andersen, Kristin and Kostolomov, Ilyá and Hveem, Tarjei S and Lorenz, Susanne and Nystad, Tove Anita and Flægstad, Trond and Micci, Francesca and Heim, Sverre
Experimental Hematology and Oncology, ISSN 2162-3619, 05/2019, Volume 8, Issue 1, pp. 12 - 8
Many cases of acute lymphoblastic leukemia (ALL) carry visible acquired chromosomal changes of pathogenetic, diagnostic, and prognostic importance.... 
RNA sequencing | Array comparative genomic hybridization | GTF2I-PDGFRB | IKZF1-TYW1 | Fluorescence in situ hybridization | Normal karyotype | Pediatric acute lymphoblastic leukemia | Fusion genes | Submicroscopic deletions | Care and treatment | Usage | MicroRNA | Acute lymphocytic leukemia | Research | Pediatrics | Brain cancer | Genomics | Leukemia | Bone marrow | T cell receptors | Genomes | Hybridization | Gene expression | Chromosomes | Deoxyribonucleic acid--DNA | VDP | Basic medical, dental and veterinary science disciplines: 710 | IKZF1–TYW1 | Medisinske Fag: 700 | Medical disciplines: 700 | Basale medisinske, odontologiske og veterinærmedisinske fag: 710 | GTF2I–PDGFRB
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9. Full Text Influence of FLT3‐internal tandem duplication allele burden and white blood cell count on the outcome in patients with intermediate‐risk karyotype acute myeloid leukemia
by How, Jonathan and Sykes, Jenna and Gupta, Vikas and Yee, Karen W. L and Schimmer, Aaron D and Schuh, Andre C and Minden, Mark D and Kamel‐Reid, Suzanne and Brandwein, Joseph M
Cancer, ISSN 0008-543X, 12/2012, Volume 118, Issue 24, pp. 6110 - 6117
BACKGROUND: In patients with acute myeloid leukemia (AML), testing for fms‐like tyrosine kinase‐3 (FLT3)–internal tandem duplication (FLT3‐ITD) and... 
leukemia | NPM1 mutations | FLT3 mutations | acute myeloid leukemia | nucleophosmin‐1 | fms‐like tyrosine kinase‐3 | chemotherapy | nucleophosmin-1 | fms-like tyrosine kinase-3 | GENE-MUTATIONS | POSTREMISSION THERAPY | ACUTE MYELOGENOUS LEUKEMIA | NORMAL CYTOGENETICS | YOUNGER ADULTS | ONCOLOGY | POOR-PROGNOSIS | LEUKOCYTE COUNT | PROGNOSTIC-SIGNIFICANCE | GROUP-B | Gene Duplication | Prognosis | Follow-Up Studies | Humans | Middle Aged | Male | Survival Rate | Mutation - genetics | Leukemia, Myeloid, Acute - mortality | Young Adult | fms-Like Tyrosine Kinase 3 - genetics | Karyotyping | Alleles | Leukemia, Myeloid, Acute - drug therapy | Adult | Female | Aged | Leukocyte Count | Retrospective Studies | Neoplasm Staging | Nuclear Proteins - genetics | Tandem Repeat Sequences - genetics | Leukemia, Myeloid, Acute - genetics | Allelomorphism | Analysis | Research
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10. Full Text Integrative prognostic risk score in acute myeloid leukemia with normal karyotype
by Damm, Frederik and Heuser, Michael and Morgan, Helen and Wagner, Katharina and Görlich, Kerstin and Großhennig, Anika and Hamwi, Iyas and Thol, Felicitas and Surdziel, Ewa and Fiedler, Walter and Lübbert, Michael and Kanz, Lothar and Reuter, Christoph and Heil, Gerhard and Delwel, Ruud and Löwenberg, Bob and Valk, Peter and Krauter, J and Ganser, Arnold
Blood, ISSN 0006-4971, 04/2011, Volume 117, Issue 17, pp. 4561 - 4568
textabstractTo integrate available clinical and molecular information for cytogenetically normal acute myeloid leukemia (CN-AML) patients into one risk score,... 
GENE-MUTATIONS | MICRORNA EXPRESSION SIGNATURES | INTERNAL TANDEM DUPLICATION | STUDY-GROUP ULM | COLONY-STIMULATING FACTOR | ACUTE MYELOGENOUS LEUKEMIA | NORMAL CYTOGENETICS | AML STUDY-GROUP | STEM-CELL TRANSPLANTATION | HEMATOLOGY | YOUNGER ADULT PATIENTS | Multicenter Studies as Topic - statistics & numerical data | Predictive Value of Tests | Prognosis | Clinical Trials as Topic - statistics & numerical data | Humans | Middle Aged | Risk Factors | Proportional Hazards Models | Hematopoietic Stem Cell Transplantation | Transplantation, Homologous | Leukemia, Myeloid, Acute - mortality | Young Adult | Karyotyping | Adolescent | Adult | Biomarkers, Tumor - genetics | Leukemia, Myeloid, Acute - therapy | Leukemia, Myeloid, Acute - genetics
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11. Full Text DNMT3A R882 Mutation with FLT3 -ITD Positivity Is an Extremely Poor Prognostic Factor in Patients with Normal-Karyotype Acute Myeloid Leukemia after Allogeneic Hematopoietic Cell Transplantation
by Ahn, Jae-Sook and Kim, Hyeoung-Joon and Kim, Yeo-Kyeoung and Lee, Seun-Shin and Jung, Sung-Hoon and Yang, Deok-Hwan and Lee, Je-Jung and Kim, Nan Young and Choi, Seung Hyun and Jung, Chul Won and Jang, Jun-Ho and Kim, Hee Je and Moon, Joon Ho and Sohn, Sang Kyun and Won, Jong-Ho and Kim, Sung-Hyun and Kim, Dennis Dong Hwan
Biology of Blood and Marrow Transplantation, ISSN 1083-8791, 2016, Volume 22, Issue 1, pp. 61 - 70
Abstract The prognostic relevance of epigenetic modifying genes ( DNMT3A , TET2 , and IDH1/2 ) in patients with acute myeloid leukemia (AML) has been... 
Hematology, Oncology and Palliative Medicine | TET2 | Normal karyotype | Acute myeloid leukemia | IDH1/2 | Allogeneic hematopoietic cell transplantation | DNMT3A | INTERNAL TANDEM DUPLICATION | ADULT PATIENTS | IDH2 MUTATIONS | STEM-CELLS | AML STUDY-GROUP | IMMUNOLOGY | TRANSPLANTATION | WORKING GROUP | TET2 MUTATIONS | CLINICAL-IMPLICATIONS | HEMATOLOGY | MYELODYSPLASTIC SYNDROMES | CHRONIC MYELOMONOCYTIC LEUKEMIA | Humans | Middle Aged | Hematopoietic Stem Cell Transplantation | Male | Survival Rate | Mutation, Missense | Leukemia, Myeloid, Acute - mortality | fms-Like Tyrosine Kinase 3 - genetics | DNA (Cytosine-5-)-Methyltransferases - genetics | Disease-Free Survival | Allografts | Adult | Female | Aged | Leukemia, Myeloid, Acute - therapy | Amino Acid Substitution | Leukemia, Myeloid, Acute - genetics | Epigenetic inheritance | Methyltransferases | Analysis | Genetic research | Transplantation | Chromosomes | Hematopoietic stem cells
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12. Full Text Overexpression of the ETS-Related Gene, ERG, Predicts a Worse Outcome in Acute Myeloid Leukemia With Normal Karyotype: A Cancer and Leukemia Group B Study
by Guido Marcucci and Claudia D. Baldus and Amy S. Ruppert and Michael D. Radmacher and Krzysztof Mrózek and Susan P. Whitman and Jonathan E. Kolitz and Colin G. Edwards and James W. Vardiman and Bayard L. Powell and Maria R. Baer and Joseph O. Moore and Danilo Perrotti and Michael A. Caligiuri and Andrew J. Carroll and Richard A. Larson and Albert de la Chapelle and Clara D. Bloomfield
Journal of Clinical Oncology, ISSN 0732-183X, 12/2005, Volume 23, Issue 36, pp. 9234 - 9242
Purpose: To test the prognostic significance of ETS-related gene (ERG) expression in cytogenetically normal primary acute myeloid leukemia (AML). Patients and... 
ENDOTHELIAL-CELL DIFFERENTIATION | TRANSCRIPTION FACTORS | INTERNAL TANDEM DUPLICATION | STUDY-GROUP ULM | POSTREMISSION THERAPY | ONCOLOGY | EWINGS-SARCOMA TRANSLOCATION | NORMAL CYTOGENETICS | YOUNGER ADULTS | CUMULATIVE INCIDENCE | PROGNOSTIC-SIGNIFICANCE | Transcriptional Regulator ERG | Up-Regulation | Acute Disease | Prognosis | Humans | Leukemia, Myeloid - genetics | Middle Aged | Male | Gene Expression Profiling | DNA-Binding Proteins - genetics | Reverse Transcriptase Polymerase Chain Reaction | Leukemia, Myeloid - pathology | Karyotyping | Adolescent | Survival Analysis | Trans-Activators - genetics | Adult | Female | Trans-Activators - biosynthesis | DNA-Binding Proteins - biosynthesis | Expressed Sequence Tags
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13. Full Text Age-dependent frequencies of NPM1 mutations and FLT3-ITD in patients with normal karyotype AML (NK-AML)
by Schneider, Friederike and Hoster, Eva and Schneider, Stephanie and Dufour, Annika and Benthaus, Tobias and Kakadia, Purvi M and Bohlander, Stefan K and Braess, Jan and Heinecke, Achim and Sauerland, Maria C and Berdel, Wolfgang E and Buechner, Thomas and Woermann, Bernhard J and Feuring-Buske, Michaela and Buske, Christian and Creutzig, Ursula and Thiede, Christian and Zwaan, Michel C and van den Heuvel-Eibrink, Marry M and Reinhardt, Dirk and Hiddemann, Wolfgang and Spiekermann, Karsten
Annals of Hematology, ISSN 0939-5555, 1/2012, Volume 91, Issue 1, pp. 9 - 18
Prognosis of AML in elderly patients is poor due to adverse patient characteristics and comorbidities. In addition, disease-associated parameters reveal... 
NPM1 | Elderly patient | Medicine & Public Health | Hematology | FLT3-ITD | Normal karyotype | Oncology | Neoplasia | Acute myeloid leukemia | GENE-MUTATIONS | ACUTE MYELOGENOUS LEUKEMIA | NORMAL CYTOGENETICS | DOUBLE INDUCTION | HIGH-DOSE CYTARABINE | TANDEM DUPLICATION | COOPERATIVE GROUP | ACUTE MYELOID-LEUKEMIA | NUCLEOPHOSMIN NPM1 | PROGNOSTIC-SIGNIFICANCE | HEMATOLOGY | Prognosis | Age Factors | Humans | Middle Aged | Child, Preschool | Infant | Survival Rate | Young Adult | fms-Like Tyrosine Kinase 3 - genetics | DNA Mutational Analysis | Adolescent | Adult | Aged | Mutation | Nuclear Proteins - genetics | Child | Tandem Repeat Sequences - genetics | Karyotype | Leukemia, Myeloid, Acute - physiopathology | Leukemia, Myeloid, Acute - genetics | Care and treatment | Comorbidity | Oncology, Experimental | Leukemia | Genes | Research | Biometry | Anopheles | Gene mutations | Analysis | Genetic aspects | Universities and colleges | Cancer
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