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1. Full Text Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome
by Lemaire, Mathieu and Frémeaux-Bacchi, Véronique and Schaefer, Franz and Choi, Murim and Tang, Wai Ho and Quintrec, Moglie Le and Fakhouri, Fadi and Taque, Sophie and Nobili, François and Martinez, Frank and Ji, Weizhen and Overton, John D and Mane, Shrikant M and Nürnberg, Gudrun and Altmüller, Janine and Thiele, Holger and Morin, Denis and Deschenes, Georges and Baudouin, Véronique and Llanas, Brigitte and Collard, Laure and Majid, Mohammed A and Simkova, Eva and Nürnberg, Peter and Rioux-Leclerc, Nathalie and Moeckel, Gilbert W and Gubler, Marie Claire and Hwa, John and Loirat, Chantal and Lifton, Richard P
Nature genetics, ISSN 1061-4036, 05/2013, Volume 45, Issue 5, pp. 531 - 536
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Hemolytic-Uremic Syndrome - etiology | Renal Insufficiency, Chronic | Genes, Recessive - genetics | Humans | Child, Preschool | Molecular Sequence Data | Infant | Male | Acute Kidney Injury - genetics | Mutation - genetics | Diacylglycerol Kinase - genetics | Immunoenzyme Techniques | Thrombotic Microangiopathies - genetics | Hemolytic-Uremic Syndrome - pathology | Thrombocytopenia - genetics | Exome - genetics | Female | Atypical Hemolytic Uremic Syndrome | Child | Care and treatment | Gene mutations | Von Willebrand factor | Genetic aspects | Research | Health aspects | Hemolytic-uremic syndrome | Risk factors | Proteins | Studies | Confidence intervals | Pediatrics | Genealogy | Databases | Genetics | Amino acids | Genomes | Mutation | Age | Siblings | Index Medicus | Life Sciences
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2. Full Text Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study
by Rosewich, Hendrik, MD and Thiele, Holger, MD and Ohlenbusch, Andreas, PhD and Maschke, Ulrike, MD and Altmüller, Janine, MD and Frommolt, Peter, PhD and Zirn, Birgit, PhD and Ebinger, Friedrich, MD and Siemes, Hartmut, Prof and Nürnberg, Peter, Prof and Brockmann, Knut, Prof and Gärtner, Jutta, Prof
Lancet neurology, ISSN 1474-4422, 2012, Volume 11, Issue 9, pp. 764 - 773
Neurology | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Genetic Predisposition to Disease - genetics | Sodium-Potassium-Exchanging ATPase - genetics | Humans | Male | Mutation - genetics | Young Adult | Exome - genetics | DNA Mutational Analysis | Hemiplegia - genetics | Adolescent | Adult | Female | Heterozygote | Retrospective Studies | Child | Medicine, Experimental | Medical research | Hemiplegia | Nervous system diseases | Care and treatment | Genetic aspects | Index Medicus | Pediatrics | Children | Dystonia | Mutation | Twins | Age | Genotypes | Neurotransmission
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3. Full Text The biotrophic development of ustilago maydis studied by RNA-seq analysis
by Lanver, Daniel and Müller, André N and Happel, Petra and Schweizer, Gabriel and Haas, Fabian B and Franitza, Marek and Pellegrin, Clément and Reissmann, Stefanie and Altmüller, Janine and Rensing, Stefan A and Kahmann, Regine
The Plant cell, ISSN 1040-4651, 02/2018, Volume 30, Issue 2, pp. 300 - 323
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Plant Sciences | Science & Technology | Cell Biology | RNA sequencing | Genetic transcription | DNA binding proteins | RNA | Analysis | Transcription factors | Nutrition | Modules | Virulence | Corn | Metabolism | Gene expression | Ribonucleic acid--RNA | Proteins | Fungi | Nutrient utilization | Virulence factors | Nutrient availability | Nutrients | Colonization | Smut | Inducers | Tumors | Index Medicus | Large-Scale Biology
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4. Full Text Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis
by Adam, Ronja and Spier, Isabel and Zhao, Bixiao and Kloth, Michael and Marquez, Jonathan and Hinrichsen, Inga and Kirfel, Jutta and Tafazzoli, Aylar and Horpaopan, Sukanya and Uhlhaas, Siegfried and Stienen, Dietlinde and Friedrichs, Nicolaus and Altmüller, Janine and Laner, Andreas and Holzapfel, Stefanie and Peters, Sophia and Kayser, Katrin and Thiele, Holger and Holinski-Feder, Elke and Marra, Giancarlo and Kristiansen, Glen and Nöthen, Markus M and Büttner, Reinhard and Möslein, Gabriela and Betz, Regina C and Brieger, Angela and Lifton, Richard P and Aretz, Stefan
American journal of human genetics, ISSN 0002-9297, 08/2016, Volume 99, Issue 2, pp. 337 - 351
massive parallel sequencing | exome sequencing | adenomatous polyposis | candidate genes | hereditary tumor syndromes | mismatch repair | familial colorectal cancer | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genes, Recessive - genetics | Colorectal Neoplasms - genetics | Humans | Middle Aged | Child, Preschool | Male | DNA-Binding Proteins - genetics | Germ-Line Mutation - genetics | DNA-Binding Proteins - deficiency | Exome - genetics | DNA Mutational Analysis | Pedigree | Adolescent | Alleles | Adult | Female | MutS Homolog 3 Protein | Adenomatous Polyposis Coli - genetics | Mismatch Repair Endonuclease PMS2 - genetics | Gene mutations | Colorectal cancer | Genetic aspects | Nucleotide sequencing | Health aspects | Methods | DNA sequencing | Genetics | Mutation | Ribonucleic acid--RNA | Tumors | Index Medicus
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5. Full Text A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function
by Hussain, Muhammad Sajid and Baig, Shahid Mahmood and Neumann, Sascha and Nürnberg, Gudrun and Farooq, Muhammad and Ahmad, Ilyas and Alef, Thomas and Hennies, Hans Christian and Technau, Martin and Altmüller, Janine and Frommolt, Peter and Thiele, Holger and Noegel, Angelika Anna and Nürnberg, Peter
American journal of human genetics, ISSN 0002-9297, 05/2012, Volume 90, Issue 5, pp. 871 - 878
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Neurology | Malformations of the nervous system | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Microcephaly - genetics | Exons | Humans | Male | Genetic Loci | Chromosomes, Human, Pair 4 - genetics | Gene Knockdown Techniques | Intellectual Disability - genetics | Exome | Pakistan - epidemiology | RNA Interference | Female | Microcephaly - physiopathology | Child | Centrosome | Genetic Linkage | Sequence Analysis, DNA | Chromosomes, Human, Pair 4 - metabolism | Intellectual Disability - physiopathology | Carrier Proteins - genetics | Homozygote | Carrier Proteins - metabolism | Pedigree | Polymorphism, Single Nucleotide | Mutation | Nervous system diseases | Gene mutations | Genetic aspects | Research | Gene expression | Pakistanis | Chromosomes | Diseases | Proteins | Genetic disorders | RNA | Genes | Genetically modified organisms | Genetic research | Congenital diseases | Neurological disorders | Index Medicus | Brain | Head | Brain architecture | Growth rate | RNA-mediated interference | Centrosomes | Frameshift mutation | Mental retardation | Neurogenesis | Organelles | chromosome 4 | Microencephaly | Microtubules | chromosome 2 | Fibroblasts | Children | Gene mapping | Report
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6. Full Text Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors
by George, Julie and Walter, Vonn and Peifer, Martin and Alexandrov, Ludmil B and Seidel, Danila and Leenders, Frauke and Maas, Lukas and Müller, Christian and Dahmen, Ilona and Delhomme, Tiffany M and Ardin, Maude and Leblay, Noemie and Byrnes, Graham and Sun, Ruping and De Reynies, Aurélien and McLeer-Florin, Anne and Bosco, Graziella and Malchers, Florian and Menon, Roopika and Altmüller, Janine and Becker, Christian and Nürnberg, Peter and Achter, Viktor and Lang, Ulrich and Schneider, Peter M and Bogus, Magdalena and Soloway, Matthew G and Wilkerson, Matthew D and Cun, Yupeng and McKay, James D and Moro-Sibilot, Denis and Brambilla, Christian G and Lantuejoul, Sylvie and Lemaitre, Nicolas and Soltermann, Alex and Weder, Walter and Tischler, Verena and Brustugun, Odd Terje and Lund-Iversen, Marius and Helland, Åslaug and Solberg, Steinar and Ansén, Sascha and Wright, Gavin and Solomon, Benjamin and Roz, Luca and Pastorino, Ugo and Petersen, Iver and Clement, Joachim H and Sänger, Jörg and Wolf, Jürgen and Vingron, Martin and Zander, Thomas and Perner, Sven and Travis, William D and Haas, Stefan A and Olivier, Magali and Foll, Matthieu and Büttner, Reinhard and Hayes, David Neil and Brambilla, Elisabeth and Fernandez-Cuesta, Lynnette and Thomas, Roman K and Los Alamos National Lab. (LANL), Los Alamos, NM (United States)
Nature communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1048 - 13
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Immunohistochemistry | Lung Neoplasms - genetics | Carcinoma, Non-Small-Cell Lung - genetics | DNA Mutational Analysis | Humans | Carcinoma, Neuroendocrine - genetics | In Situ Hybridization, Fluorescence | High-Throughput Nucleotide Sequencing | Small Cell Lung Carcinoma - genetics | Genomics - methods | In Vitro Techniques | Neuroendocrine Tumors - genetics | Squamous cell carcinoma | Alterations | Deactivation | Transcription | Lungs | Small cell lung carcinoma | p53 Protein | Inactivation | Subgroups | Tumors | Cancer | Index Medicus | BASIC BIOLOGICAL SCIENCES | Biological Science
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7. Full Text Clonal dynamics towards the development of venetoclax resistance in chronic lymphocytic leukemia
by Herling, Carmen D and Abedpour, Nima and Weiss, Jonathan and Schmitt, Anna and Jachimowicz, Ron Daniel and Merkel, Olaf and Cartolano, Maria and Oberbeck, Sebastian and Mayer, Petra and Berg, Valeska and Thomalla, Daniel and Kutsch, Nadine and Stiefelhagen, Marius and Cramer, Paula and Wendtner, Clemens-Martin and Persigehl, Thorsten and Saleh, Andreas and Altmüller, Janine and Nürnberg, Peter and Pallasch, Christian and Achter, Viktor and Lang, Ulrich and Eichhorst, Barbara and Castiglione, Roberta and Schäfer, Stephan C and Büttner, Reinhard and Kreuzer, Karl-Anton and Reinhardt, Hans Christian and Hallek, Michael and Frenzel, Lukas P and Peifer, Martin
Nature communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 727 - 8
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Humans | Drug Resistance, Neoplasm | Male | Leukemia, Lymphocytic, Chronic, B-Cell - genetics | Neoplasm Proteins - metabolism | Cyclin-Dependent Kinase Inhibitor p18 - metabolism | Cyclin-Dependent Kinase Inhibitor p18 - genetics | Sulfonamides - therapeutic use | Bridged Bicyclo Compounds, Heterocyclic - therapeutic use | Cyclin-Dependent Kinase Inhibitor p15 - genetics | Leukemia, Lymphocytic, Chronic, B-Cell - metabolism | Female | Cyclin-Dependent Kinase Inhibitor p15 - metabolism | Leukemia, Lymphocytic, Chronic, B-Cell - drug therapy | Mutation | Neoplasm Proteins - genetics | Chronic lymphatic leukemia | Therapeutic applications | Leukemia | PD-L1 protein | Data processing | Aberration | Lymphatic leukemia | Patients | Cancer | Index Medicus
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8. Full Text Ion transporter NKCC1, modulator of neurogenesis in murine olfactory neurons
by Haering, Claudia and Kanageswaran, Ninthujah and Bouvain, Pascal and Scholz, Paul and Altmüller, Janine and Becker, Christian and Gisselmann, Günter and Wäring-Bischof, Janine and Hatt, Hanns
The Journal of biological chemistry, ISSN 0021-9258, 04/2015, Volume 290, Issue 15, pp. 9767 - 9779
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Olfactory Receptor Neurons - physiology | Solute Carrier Family 12, Member 2 - genetics | Transcriptome | Immunoblotting | Male | Olfactory Mucosa - metabolism | Signal Transduction - genetics | Olfactory Mucosa - physiology | Solute Carrier Family 12, Member 2 - deficiency | Mice, Inbred Strains | Reverse Transcriptase Polymerase Chain Reaction | Odorants | Olfactory Receptor Neurons - metabolism | Mice, Knockout | Smell | Neurogenesis - genetics | Microscopy, Confocal | Animals | Chlorides - metabolism | Female | Signal Transduction - physiology | High-Throughput Nucleotide Sequencing | Ion Transport - genetics | Index Medicus | Gene Regulation | development | Na-K-Cl cotransporter (NKCC) | electrophysiology | next generation sequencing | Olfaction | neurobiology | neurogenesis | chloride | NKCC1 | knockout mouse
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