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1. Full Text Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine
by Dichgans, Martin and Freilinger, Tobias and Eckstein, Gertrud and Babini, Elena and Lorenz-Depiereux, Bettina and Biskup, Saskia and Ferrari, Michel D and Herzog, Jürgen and van den Maagdenberg, Arn MJM and Pusch, Michael and Strom, Tim M
The Lancet, ISSN 0140-6736, 2005, Volume 366, Issue 9483, pp. 371 - 377
Familial hemiplegic migraine is an autosomal dominant severe subtype of migraine with aura characterised by some degree of hemiparesis during the attacks. So... 
MEDICINE, GENERAL & INTERNAL | GENE | SEVERE MYOCLONIC EPILEPSY | MECHANISMS | FEBRILE SEIZURES | HIPPOCAMPAL-FORMATION | GENERALIZED EPILEPSY | TYPE-2 | AURA | SPREADING DEPRESSION | SUBUNIT | Humans | Middle Aged | Mutation, Missense | Migraine with Aura - complications | Chromosomes, Human, Pair 2 | Hemiplegia - genetics | Adolescent | Adult | Aged | Neurons - metabolism | Sodium Channels - genetics | Hemiplegia - complications | Migraine with Aura - genetics | Sodium channels | Care and treatment | Research | Diagnosis | Migraine | Risk factors | Genotype & phenotype | Mutation | Genes
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2. Full Text Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions
by Illig, Thomas and Holsboer, Florian and Stiasny-Kolster, Karin and Xiong, Lan and Trenkwalder, Claudia and Eckstein, Gertrud and Montplaisir, Jacques and Wichmann, H-Erich and Schormair, Barbara and Gieger, Christian and Meitinger, Thomas and Oertel, Wolfgang and Lichtner, Peter and Pütz, Benno and Paulus, Walter and Turecki, Gustavo and Jalilzadeh, Shapour and Bachmann, Cornelius G and Peglau, Ines and Winkelmann, Juliane and Müller-Myhsok, Bertram and Fulda, Stephany and Ripke, Stephan and Zimprich, Alexander and Hauk, Stephanie and Rouleau, Guy and Eisensehr, Ilonka
Nature Genetics, ISSN 1061-4036, 08/2007, Volume 39, Issue 8, pp. 1000 - 1006
Restless legs syndrome (RLS) is a frequent neurological disorder characterized by an imperative urge to move the legs during night, unpleasant sensation in the... 
POPULATION | ERK5 | GENETICS & HEREDITY | Haplotypes | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease | Introns | Humans | Middle Aged | Repressor Proteins - genetics | Chromosome Mapping | MAP Kinase Kinase 5 - genetics | Transcription Factors - genetics | Chromosomes, Human, Pair 6 | Case-Control Studies | Homeodomain Proteins - genetics | Restless Legs Syndrome - genetics | Chromosomes, Human, Pair 2 | Chromosomes, Human, Pair 15 | Aged, 80 and over | Adult | Aged | Polymorphism, Single Nucleotide | Myeloid Ecotropic Viral Integration Site 1 Protein | Neoplasm Proteins - genetics | Restless legs syndrome | Genetic variation | Physiological aspects | Genetic aspects | Research | Diagnosis | Identification and classification | Risk factors | Neurology | Gene expression | Chromosomes | Genomics
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3. Full Text PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome
by Schormair, Barbara and Kemlink, David and Roeske, Darina and Eckstein, Gertrud and Xiong, Lan and Lichtner, Peter and Ripke, Stephan and Trenkwalder, Claudia and Zimprich, Alexander and Stiasny-Kolster, Karin and Oertel, Wolfgang and Bachmann, Cornelius G and Paulus, Walter and Högl, Birgit and Frauscher, Birgit and Gschliesser, Viola and Poewe, Werner and Peglau, Ines and Vodicka, Pavel and Vávrová, Jana and Sonka, Karel and Nevsimalova, Sona and Montplaisir, Jacques and Turecki, Gustavo and Rouleau, Guy and Gieger, Christian and Illig, Thomas and Wichmann, H-Erich and Holsboer, Florian and Müller-Myhsok, Bertram and Meitinger, Thomas and Winkelmann, Juliane
Nature Genetics, ISSN 1061-4036, 2008, Volume 40, Issue 8, pp. 946 - 948
We identified association of restless legs syndrome (RLS) with PTPRD at 9p23-24 in 2,458 affected individuals and 4,749 controls from Germany, Austria, Czechia... 
CHROMOSOME 9P | SLEEP | PERIODIC LIMB MOVEMENTS | GENETICS & HEREDITY | GENETIC RISK-FACTOR | LINKAGE | LOCUS | CANCER | FAMILY | Canada | Austria | Czech Republic | Genetic Predisposition to Disease | Humans | 5' Untranslated Regions - genetics | Polymorphism, Single Nucleotide | Receptor-Like Protein Tyrosine Phosphatases, Class 2 - genetics | Case-Control Studies | Germany | Restless Legs Syndrome - genetics | Restless legs syndrome | Protein research | Genetic aspects | Research | Single nucleotide polymorphisms | Gene expression | Medical research | Statistical analysis | Sample size | Genetics | Mass spectrometry | Chromosomes | Cell adhesion & migration
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4. Full Text Genomic heterogeneity of osteosarcoma - Shift from single candidates to functional modules
by Poos, Kathrin and Smida, Jan and Maugg, Doris and Eckstein, Gertrud and Baumhoer, Daniel and Nathrath, Michaela and Korsching, Eberhard
PLoS ONE, ISSN 1932-6203, 04/2015, Volume 10, Issue 4, p. e0123082
Osteosarcoma (OS), a bone tumor, exhibit a complex karyotype. On the genomic level a highly variable degree of alterations in nearly all chromosomal regions... 
NETWORK | COPY-NUMBER | MULTIDISCIPLINARY SCIENCES | TUMOR-SUPPRESSOR GENE | HIGH-GRADE OSTEOSARCOMA | HYBRIDIZATION | PROGNOSTIC-SIGNIFICANCE | ALLELIC IMBALANCES | CHROMOSOME 6Q | EXPRESSION | REVEALS | Bone Neoplasms - mortality | Osteosarcoma - mortality | Prognosis | Genetic Association Studies | Genes, Neoplasm | Humans | Middle Aged | Molecular Sequence Annotation | Kaplan-Meier Estimate | Child, Preschool | Male | Genetic Heterogeneity | DNA Copy Number Variations | Young Adult | Adolescent | Adult | Female | Bone Neoplasms - genetics | Polymorphism, Single Nucleotide | Osteosarcoma - genetics | Genome, Human | Child | Osteosarcoma | Genes | Pediatrics | Candidates | Deregulation | Copy number | DNA damage | Modules | Genomes | Biology | Bone tumors | Modularity | Proteins | Heterogeneity | Alterations | Cellular communication | Functionals | Cooperation | Biocompatibility | Bioinformatics | Chromosomes | Deoxyribonucleic acid--DNA | Medical research | Environmental health | Chromosome 6 | Gene expression | Children & youth | Bone cancer | Hypotheses | Hospitals | Molecular modelling | Open access publishing | Mutation | Cancer | Apoptosis | Tumors | Deoxyribonucleic acid | DNA
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5. Full Text Genome-wide scan identifies CDH13 as a novel susceptibility locus contributing to blood pressure determination in two European populations
by Org, Elin and Eyheramendy, Susana and Juhanson, Peeter and Gieger, Christian and Lichtner, Peter and Klopp, Norman and Veldre, Gudrun and Döring, Angela and Viigimaa, Margus and Sõber, Siim and Tomberg, Kärt and Eckstein, Gertrud and Kelgo, Piret and Rebane, Tiina and Shaw-Hawkins, Sue and Howard, Philip and Onipinla, Abiodun and Dobson, Richard J and Newhouse, Stephen J and Brown, Morris and Dominiczak, Anna and Connell, John and Samani, Nilesh and Farrall, Martin and Caulfield, Mark J and Munroe, Patricia B and Illig, Thomas and Wichmann, H.-Erich and Meitinger, Thomas and Laan, Maris and KORA and BRIGHT
Human Molecular Genetics, ISSN 0964-6906, 6/2009, Volume 18, Issue 12, pp. 2288 - 2296
Hypertension is a complex disease that affects a large proportion of adult population. Although approximately half of the inter-individual variance in blood... 
MOLECULE T-CADHERIN | SET | VASCULATURE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | ESSENTIAL-HYPERTENSION | ASSOCIATION | EXPRESSION | CANCER | Blood Pressure | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Humans | Middle Aged | Hypertension - physiopathology | Young Adult | Adolescent | Aged, 80 and over | Adult | Aged | Polymorphism, Single Nucleotide | Hypertension - genetics | Cadherins - genetics | Cohort Studies | Association Studies
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6. Full Text Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer
by Giehl, Kathrin A and Eckstein, Gertrud N and Pasternack, Sandra M and Praetzel-Wunder, Silke and Ruzicka, Thomas and Lichtner, Peter and Seidl, Kerstin and Rogers, Mike and Graf, Elisabeth and Langbein, Lutz and Braun-Falco, Markus and Betz, Regina C and Strom, Tim M
The American Journal of Human Genetics, ISSN 0002-9297, 10/2012, Volume 91, Issue 4, pp. 754 - 759
Punctate palmoplantar keratodermas (PPKPs) are rare autosomal-dominant inherited skin diseases that are characterized by multiple hyperkeratotic plaques... 
DISEASES | PROTEIN | GENE | FAMILIES | GENETICS & HEREDITY | EPIDERMOLYTIC HYPERKERATOSIS | IDENTIFICATION | LOCUS | KERATINS | Genetic Predisposition to Disease | Protein Biosynthesis | Keratoderma, Palmoplantar - genetics | Skin Diseases - genetics | Skin Diseases - metabolism | Humans | RNA, Messenger - genetics | Male | Codon, Nonsense | Chromosomes, Human, Pair 15 - genetics | Adaptor Proteins, Vesicular Transport | Exome | Carrier Proteins - genetics | Keratinocytes - metabolism | Keratoderma, Palmoplantar - metabolism | Pedigree | Alleles | Female | Heterozygote | Sequence Analysis, DNA - methods | Gene mutations | Molecular chaperones | Causes of | Genetic aspects | Research | Genetic translation | Health aspects | Keratodermas | Protein binding | Report
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7. Full Text Impact of common regulatory single-nucleotide variants on gene expression profiles in whole blood
by Mehta, Divya and Heim, Katharina and Herder, Christian and Carstensen, Maren and Eckstein, Gertrud and Schurmann, Claudia and Homuth, Georg and Nauck, Matthias and Völker, Uwe and Roden, Michael and Illig, Thomas and Gieger, Christian and Meitinger, Thomas and Prokisch, Holger
European Journal of Human Genetics, ISSN 1018-4813, 01/2013, Volume 21, Issue 1, pp. 48 - 54
Genome-wide association studies (GWASs) have uncovered susceptibility loci for a large number of complex traits. Functional interpretation of candidate genes... 
whole blood | GWAS | eQTL | gene expression | POPULATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | LOCI | IDENTIFICATION | QTLS | GENOME-WIDE ASSOCIATION | TOOL | European Continental Ancestry Group - genetics | Genome-Wide Association Study | Reproducibility of Results | Humans | Transcriptome | Polymorphism, Single Nucleotide | Blood Physiological Phenomena - genetics | Quantitative Trait Loci | Cohort Studies | Medical research | Disease | Genomics | Environmental health | Genomes | Single-nucleotide polymorphism | Gene expression | Epidemiology | Blood | Quantitative trait loci | Studies | Etiology | Population | Replication | Genetics | Diabetes | Gene mapping | Research centers | Bioinformatics | Risk assessment | Data processing
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8. Full Text Mapping the genetic architecture of gene regulation in whole blood
by Schramm, Katharina and Marzi, Carola and Schurmann, Claudia and Carstensen, Maren and Reinmaa, Eva and Biffar, Reiner and Eckstein, Gertrud and Gieger, Christian and Grabe, Hans-Jörgen and Homuth, Georg and Kastenmüller, Gabriele and Mägi, Reedik and Metspalu, Andres and Mihailov, Evelin and Peters, Annette and Petersmann, Astrid and Roden, Michael and Strauch, Konstantin and Suhre, Karsten and Teumer, Alexander and Völker, Uwe and Völzke, Henry and Wang-Sattler, Rui and Waldenberger, Melanie and Meitinger, Thomas and Illig, Thomas and Herder, Christian and Grallert, Harald and Prokisch, Holger
PLoS ONE, ISSN 1932-6203, 04/2014, Volume 9, Issue 4, p. e93844
Background: We aimed to assess whether whole blood expression quantitative trait loci (eQTLs) with effects in cis and trans are robust and can be used to... 
KORA | POPULATION | PRESSURE | VARIANTS | MULTIDISCIPLINARY SCIENCES | COHORT | HEALTH | CHRONIC KIDNEY-DISEASE | EXPRESSION | GENOME-WIDE ASSOCIATION | Genetic Association Studies | Humans | Gene Expression Regulation | Linear Models | Chromosome Mapping | Polymorphism, Single Nucleotide | Genetic Markers | Gene Regulatory Networks | Quantitative Trait Loci | Blood - metabolism | Quantitative trait loci | Genome-wide association studies | Analysis | Physiological aspects | B cells | Gene expression | Genetic regulation | Transcription | Identification methods | Genomics | Gene regulation | Genomes | Biology | Single-nucleotide polymorphism | Tissues | Epidemiology | Blood | Consortia | Regression models | Pathways | Ships | Genetics | Tubes | Bioinformatics | Immune system | Chemical industry | Immune response | Environmental health | Agent orange | Regression analysis | Metabolism | Medicine | Molecular modelling | Reproducibility | Reagents | Biomarkers | Replication | Gene loci | Kidney diseases | Diabetes | Gene mapping
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9. Full Text Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate co-transporter gene SLC34A3
by Lorenz-Depiereux, Bettina and Benet-Pages, Anna and Eckstein, Gertrud and Tenenbaum-Rakover, Yardena and Wagenstaller, Janine and Tiosano, Dov and Gershoni-Baruch, Ruth and Albers, Norbert and Lichtner, Peter and Schnabel, Dirk and Hochberg, Ze'ev and Strom, Tim M
American Journal of Human Genetics, ISSN 0002-9297, 2006, Volume 78, Issue 2, pp. 193 - 201
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10. Full Text Biallelic mutations of methionyl-tRNA synthetase cause a specific type of pulmonary alveolar proteinosis prevalent on Réunion Island
by Hadchouel, Alice and Wieland, Thomas and Griese, Matthias and Baruffini, Enrico and Lorenz-Depiereux, Bettina and Enaud, Laurent and Graf, Elisabeth and Dubus, Jean Christophe and Halioui-Louhaichi, Sonia and Coulomb, Aurore and Delacourt, Christophe and Eckstein, Gertrud and Zarbock, Ralf and Schwarzmayr, Thomas and Cartault, François and Meitinger, Thomas and Lodi, Tiziana and De Blic, Jacques and Strom, Tim M
American Journal of Human Genetics, ISSN 0002-9297, 05/2015, Volume 96, Issue 5, pp. 826 - 831
Methionyl-tRNA synthetase (MARS) catalyzes the ligation of methionine to tRNA and is critical for protein biosynthesis. We identified biallelic missense... 
GENE | SACCHAROMYCES-CEREVISIAE | GENETICS & HEREDITY | FAMILY | Protein Biosynthesis | Endoplasmic Reticulum - genetics | Humans | Child, Preschool | Male | Golgi Apparatus - pathology | Mutation, Missense | Pulmonary Alveolar Proteinosis - pathology | Young Adult | Endoplasmic Reticulum - pathology | Pulmonary Alveolar Proteinosis - genetics | Adolescent | Alleles | Female | Child | Methionine-tRNA Ligase - genetics | Golgi Apparatus - genetics | Allelomorphism | Protein biosynthesis | Gene mutations | Identification and classification | Health aspects | Transfer RNA | Report
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11. Full Text Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease
by Wagner, Matias and Berutti, Riccardo and Lorenz‐Depiereux, Bettina and Graf, Elisabeth and Eckstein, Gertrud and Mayr, Johannes A and Meitinger, Thomas and Ahting, Uwe and Prokisch, Holger and Strom, Tim M and Wortmann, Saskia B
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 09/2019, Volume 42, Issue 5, pp. 909 - 917
Diagnostics for suspected mitochondrial disease (MD) can be challenging and necessitate invasive procedures like muscle biopsy. This is due to the extremely... 
nuclear DNA | diagnostics | mitochondrial disorders | muscle biopsy | bioinformatics | MEDICINE, RESEARCH & EXPERIMENTAL | IDENTIFY | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | GENOME
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12. Full Text Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3
by Lorenz-Depiereux, Bettina and Benet-Pages, Anna and Eckstein, Gertrud and Tenenbaum-Rakover, Yardena and Wagenstaller, Janine and Tiosano, Dov and Gershoni-Baruch, Ruth and Albers, Norbert and Lichtner, Peter and Schnabel, Dirk and Hochberg, Ze'ev and Strom, Tim M
The American Journal of Human Genetics, ISSN 0002-9297, 2006, Volume 78, Issue 2, pp. 193 - 201
Hypophosphatemia due to isolated renal phosphate wasting results from a heterogeneous group of disorders. Hereditary hypophosphatemic rickets with... 
OSTEOMALACIA | MAPS | CLONING | GENETICS & HEREDITY | ABLATION | EXPRESSION | PROGRAM | Familial Hypophosphatemic Rickets - classification | Humans | Child, Preschool | Familial Hypophosphatemic Rickets - metabolism | Male | Chromosome Mapping | Phylogeny | Chromosomes, Human, Pair 9 - genetics | Familial Hypophosphatemic Rickets - genetics | Animals | DNA Mutational Analysis | Fibroblast Growth Factors - blood | Pedigree | Sodium-Phosphate Cotransporter Proteins, Type IIc - genetics | Kidney Tubules, Proximal - metabolism | Female | Hypercalciuria - genetics | Mice | Polymorphism, Single Nucleotide | Mutation | Genetic Diseases, X-Linked | Child | Genetic Linkage | Causes of | Hypophosphatemia | Hypercalciuria | Research | Human genome
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13. Full Text Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
by Kremer, Laura S and Distelmaier, Felix and Alhaddad, Bader and Hempel, Maja and Iuso, Arcangela and Küpper, Clemens and Mühlhausen, Chris and Kovacs-Nagy, Reka and Satanovskij, Robin and Graf, Elisabeth and Berutti, Riccardo and Eckstein, Gertrud and Durbin, Richard and Sauer, Sascha and Hoffmann, Georg F and Strom, Tim M and Santer, René and Meitinger, Thomas and Klopstock, Thomas and Prokisch, Holger and Haack, Tobias B
The American Journal of Human Genetics, ISSN 0002-9297, 02/2016, Volume 98, Issue 2, pp. 358 - 362
Molecular diagnosis of mitochondrial disorders is challenging because of extreme clinical and genetic heterogeneity. By exome sequencing, we identified three... 
MITOCHONDRIAL | DELETION SYNDROME | DEFICIENCY | GENES | GENETICS & HEREDITY | Mitochondrial Diseases - genetics | Humans | Child, Preschool | Infant | Male | Mitochondria - metabolism | Exome | Cardiomyopathies - genetics | Mitochondria - genetics | Pedigree | Alleles | Cardiomyopathies - diagnosis | Female | Arrhythmias, Cardiac - diagnosis | Mutation | Arrhythmias, Cardiac - genetics | Mitochondrial Diseases - diagnosis | Allelomorphism | Gene mutations | Cardiomyopathy | Metabolic diseases | Genetic aspects | Observations | Health aspects | Heart diseases | Report
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