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Journal of Inherited Metabolic Disease, ISSN 0141-8955, 12/2018, Volume 41, Issue 6, pp. 1295 - 1295
Unfortunately the name of one of the authors was spelled incorrectly in the published original article. The correct name is Alejandro Santos‐Lozano. The... 
Heterozygotes | Statins
Journal Article
Human genomics, ISSN 1473-9542, 10/2018, Volume 12, Issue 1, pp. 45 - 45
We aimed to clarify the emerging epigenetic landscape in a group of genes classified as "modifier genes" of the beta-type globin genes (HBB cluster), known to... 
SCA/β-thal heterozygotes | HBB cluster "modifying genes" | Hydroxyurea treatment | SCA homozygotes | HBB cluster “modifying genes” | HbF induction | Epigenetic regulation | TRANSCRIPTION FACTORS | SCA/beta-thal heterozygotes | DNA METHYLATION | BCL11A | ERYTHROID-CELLS | FETAL-HEMOGLOBIN INDUCTION | HYDROXYCARBAMIDE | HUMAN GENOME | GENE | SICKLE-CELL-ANEMIA | GENETICS & HEREDITY | BETA-THALASSEMIA | Anemia, Sickle Cell - pathology | beta-Thalassemia - pathology | Humans | beta-Thalassemia - genetics | Male | Anemia, Sickle Cell - drug therapy | Female | Nuclear Proteins - genetics | GATA2 Transcription Factor - genetics | beta-Thalassemia - blood | MAP Kinase Kinase Kinase 5 - genetics | Repressor Proteins - genetics | Hydroxyurea - administration & dosage | DNA Methylation - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | beta-Globins - genetics | Gene Expression Regulation - drug effects | beta-Thalassemia - drug therapy | Carrier Proteins - genetics | Hydroxyurea - adverse effects | Heterozygote | Anemia, Sickle Cell - blood | DNA Methylation - drug effects | Kruppel-Like Transcription Factors - genetics | Anemia, Sickle Cell - genetics | Transcription factors | Sickle cell anemia | Disease | Heterozygotes | Hydroxyurea | Genomes | Hematopoietic stem cells | Proteins | Developmental stages | DNA methylation | Hemoglobin | Sickle cell disease | Deoxyribonucleic acid--DNA | CpG islands | Hemoglobinopathy | Genetic disorders | Fetuses | Thalassemia | FDA approval | Gene expression | Embryos | Patients | Hemopoiesis | Homozygotes | MicroRNAs | Stem cells | Epigenetics | Methylation | Binding sites | Index Medicus
Journal Article
2003, Methods in Molecular Biology, ISBN 9780896039902, Volume 217., xiii, 390 p., [8] p. of plates
The rapid identification and characterization of neurologically relevant genes holds great potential for understanding not only the pathophysiologic mechanisms... 
Genetic disorders -- Diagnosis -- Laboratory manuals | Neurogenetics -- Laboratory manuals | Genetic disorders | Diagnosis | Neurogenetics | Laboratory manuals | Neurosciences | Biomedicine
Book
European Journal of Haematology, ISSN 0902-4441, 04/2011, Volume 86, Issue 4, pp. 317 - 323
Journal Article
Molecular Ecology Resources, ISSN 1755-098X, 01/2014, Volume 14, Issue 1, pp. 209 - 214
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 03/2016, Volume 374, Issue 12, pp. 1123 - 1133
Journal Article
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, ISSN 1073-449X, 02/2014, Volume 189, Issue 4, pp. 419 - 427
Rationale: Severe alpha(1)-antitrypsin deficiency (typically PiZZ homozygosity) is associated with a significantly increased risk of airflow obstruction and... 
POPULATION | STANDARDIZATION | LUNG-FUNCTION | MZ HETEROZYGOTES | NEUTROPHIL ELASTASE | heterozygote | FAMILY-BASED ASSOCIATION | INDIVIDUALS | RESPIRATORY SYSTEM | EMPHYSEMA | alpha-antitrypsin | ALPHA-1-ANTITRYPSIN DEFICIENCY | chronic obstructive pulmonary disease | AIR-FLOW OBSTRUCTION | CRITICAL CARE MEDICINE
Journal Article
Evolution, ISSN 0014-3820, 7/1984, Volume 38, Issue 4, pp. 743 - 752
The fixation of major chromosomal inversions is modelled for populations with genetic variance in fitness caused by the segregation of many genes, such that... 
Homozygotes | Population inversion | Ecological competition | Heterozygotes | Evolution | Population size | Evolutionary genetics | Chromosomes | Population genetics | Genetic mutation | EVOLUTIONARY BIOLOGY | ECOLOGY | GENETICS & HEREDITY
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 11/2017, Volume 377, Issue 21, pp. 2024 - 2035
Approximately 5% of patients with cystic fibrosis express one allele with some retained CFTR function. In a prospective trial, tezacaftor–ivacaftor had a... 
POPULATION | REGULATOR | MEDICINE, GENERAL & INTERNAL | LUMACAFTOR | EFFICACY | SAFETY | PHENOTYPE | AGED 6-11 YEARS | RANDOMIZED CONTROLLED-TRIAL | F508DEL-CFTR | G551D-CFTR MUTATION | Forced Expiratory Volume - drug effects | Cystic Fibrosis - physiopathology | Humans | Male | Aminophenols - therapeutic use | Quinolones - pharmacology | Aminophenols - adverse effects | Aminophenols - pharmacology | Young Adult | Quinolones - adverse effects | Quinolones - therapeutic use | Cystic Fibrosis Transmembrane Conductance Regulator - pharmacology | Adult | Benzodioxoles - adverse effects | Female | Indoles - pharmacology | Benzodioxoles - therapeutic use | Child | Double-Blind Method | Cross-Over Studies | Cystic Fibrosis Transmembrane Conductance Regulator - therapeutic use | Indoles - adverse effects | Cystic Fibrosis - genetics | Cystic Fibrosis Transmembrane Conductance Regulator - adverse effects | Adolescent | Quality of Life | Cystic Fibrosis Transmembrane Conductance Regulator - genetics | Heterozygote | Indoles - therapeutic use | Mutation | Benzodioxoles - pharmacology | Cystic Fibrosis - drug therapy | Drug Combinations | Proteins | Clonal deletion | Clinical trials | Heterozygotes | Cystic fibrosis | Cystic fibrosis transmembrane conductance regulator | Gene deletion | Drug therapy | Patients | Pharmaceuticals | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
by Zanoni, Paolo and Khetarpal, Sumeet A and Larach, Daniel B and Hancock-Cerutti, William F and Millar, John S and Cuchel, Marina and DerOhannessian, Stephanie and Kontush, Anatol and Surenan, Praveen and Saleheen, Danish and Trompet, Stella and Jukema, J. Wouter and de Craen, Anton and Deloukas, Panos and Sattar, Naveed and Ford, Ian and Packard, Chris and Majumder, Abdullah al Shafi and Alam, Dewan S and Di Angelantonio, Emanuele and Abecasis, Goncalo and Chowdhury, Rajiv and Erdmann, Jeanette and Nordestgaard, Børge G and Nielsen, Sune F and Tybjærg-Hansen, Anne and Schmidt, Ruth Frikke and Kuulasmaa, Kari and Liu, Dajiang J and Perola, Markus and Blankenberg, Stefan and Salomaa, Veikko and Männistö, Satu and Amouyel, Philippe and Arveiler, Dominique and Ferrieres, Jean and Müller-Nurasyid, Martina and Ferrario, Marco and Kee, Frank and Willer, Cristen J and Samani, Nilesh and Schunkert, Heribert and Butterworth, Adam S and Howson, Joanna M. M and Peloso, Gina M and Stitziel, Nathan O and Danesh, John and Kathiresan, Sekar and Rader, Daniel J and Watson, Sarah and Schmidt, Ellen M and Sengupta, Sebanti and Gustafsson, Stefan and Kanoni, Stavroula and Ganna, Anea and Chen, Jin and Buchkovich, Martin L and Mora, Samia and Beckmann, Jacques S and Bragg-Gresham, Jennifer L and Chang, Hsing-Yi and Demirkan, Ayşe and den Hertog, Heleen M and Do, Ron and Donnelly, Louise A and Ehret, Georg B and Esko, Tõnu and Feitosa, Mary F and Ferreira, Teresa and Fischer, Krista and Fontanillas, Pierre and Fraser, Ross M and Freitag, Daniel F and Gurdasani, Deepti and Heikkilä, Kauko and Hyppönen, Elina and Isaacs, Aaron and Jackson, Anne U and Johansson, Åsa and Johnson, Toby and Kaakinen, Marika and Kettunen, Johannes and Kleber, Marcus E and Li, Xiaohui and Luan, Jian'an and Lyytikäinen, Leo-Pekka and Magnusson, Patrik K. E and Mangino, Massimo and Mihailov, Evelin and Montasser, May E and Nolte, Ilja M and O'Connell, Jeffrey R and Palmer, Cameron D and Petersen, Ann-Kristin and Sanna, Serena and Saxena, Richa and Service, Susan K and Shah, Sonia and Shungin, Dmitry and Sidore, Carlo and ... and Consortium, CE and Global Lipids Genetics Consortium and CARDIoGRAM Exome Consortium and CHD Exome+ Consortium
Science, ISSN 0036-8075, 2016, Volume 351, Issue 6278, pp. 1166 - 1171
Journal Article