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34 results for Hentschel,+Julia

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ArticlesPeer ReviewedFull Text
altAFplotter: a web app for reliable UPD detection in NGS diagnostics
Author / Creator:Radtke, Maximilian ; Moch, Johanna ; Hentschel, Julia ; Schumann, Isabell
Publisher:England: BioMed Central Ltd
Journal title:BMC bioinformatics, 2024-09, Vol.25 (1), p.299-5, Article 299
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Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy
Author / Creator:Lieberwirth, Johann Kaspar ; Joset Pascal ; Heinze Anja ; Hentschel, Julia ; Stein, Anja ; Iannaccone Antonella ; Steindl Katharina ; Kuechler Alma ; Abou Jamra Rami
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-05, Vol.29 (5), p.808-815
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Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers
Author / Creator:Borde, Julika ; Laitman, Yael ; Blümcke, Britta ; Niederacher, Dieter ; Weber-Lassalle, Konstantin ; Sutter, Christian ; Rump, Andreas ; Arnold, Norbert ; Wang-Gohrke, Shan ; Horváth, Judit ; Gehrig, Andrea ; Schmidt, Gunnar ; Dutrannoy, Véronique ; Ramser, Juliane ; Hentschel, Julia ; Meindl, Alfons ; Schroeder, Christopher ; Wappenschmidt, Barbara ; Engel, Christoph ; Kuchenbaecker, Karoline ; Schmutzler, Rita K. ; Friedman, Eitan ; Hahnen, Eric ; Ernst, Corinna
Publisher:London: BioMed Central Ltd
Journal title:BMC cancer, 2022-06, Vol.22 (1), p.1-706, Article 706
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Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion
Author / Creator:Körner, Marek B. ; Velluva, Akhil ; Bundalian, Linnaeus ; Radtke, Maximilian ; Lin, Chen-Ching ; Zacher, Pia ; Bartolomaeus, Tobias ; Kirstein, Anna S. ; Mrestani, Achmed ; Scholz, Nicole ; Platzer, Konrad ; Teichmann, Anne-Christin ; Hentschel, Julia ; Langenhan, Tobias ; Lemke, Johannes R. ; Garten, Antje ; Abou Jamra, Rami ; Le Duc, Diana
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2022-08, Vol.12 (1), p.13507-13507, Article 13507
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Exome sequencing in Nigerian children with early‐onset epilepsy syndromes
Author / Creator:Ademuwagun, Ibitayo Abigail ; Adam, Yagoub ; Rotimi, Solomon Oladapo ; Syrbe, Steffen ; Radtke, Maximilian ; Hentschel, Julia ; Lemke, Johannes R. ; Adebiyi, Ezekiel
Publisher:United States: John Wiley & Sons, Inc
Journal title:Epilepsia open, 2025-02, Vol.10 (1), p.222-232
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Reduced Nasal Nitric Oxide Production in Cystic Fibrosis Patients with Elevated Systemic Inflammation Markers
Author / Creator:Michl, Ruth K. ; Hentschel, Julia ; Fischer, Christiane ; Beck, James F. ; Mainz, Jochen G.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-11, Vol.8 (11), p.e79141-e79141
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The Posttraumatic Increase of the Adhesion GPCR EMR2/ADGRE2 on Circulating Neutrophils Is Not Related to Injury Severity
Author / Creator:Zheng, Leyu ; Rang, Moujie ; Fuchs, Carolin ; Keß, Annette ; Wunsch, Mandy ; Hentschel, Julia ; Hsiao, Cheng-Chih ; Kleber, Christian ; Osterhoff, Georg ; Aust, Gabriela
Publisher:Switzerland: MDPI AG
Journal title:Cells (Basel, Switzerland), 2023-11, Vol.12 (22), p.2657
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Changes of Proteases, Antiproteases, and Pathogens in Cystic Fibrosis Patients’ Upper and Lower Airways after IV-Antibiotic Therapy
Author / Creator:Müller, Ulrike ; Hentschel, Julia ; Janhsen, Wibke K. ; Hünniger, Kerstin ; Hipler, Uta-Christina ; Sonnemann, Jürgen ; Pfister, Wolfgang ; Böer, Klas ; Lehmann, Thomas ; Mainz, Jochen G.
Publisher:Cairo, Egypt: Hindawi Limiteds
Journal title:Mediators of Inflammation, 2015-01, Vol.2015 (2015), p.269-284-327
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Pseudomonas aeruginosa Acquisition in Cystic Fibrosis Patients in Context of Otorhinolaryngological Surgery or Dentist Attendance: Case Series and Discussion of Preventive Concepts
Author / Creator:Mueller, Andreas H. ; Pletz, Mathias Wilhelm ; Nader, Anika ; Hentschel, Julia ; Michl, Ruth ; Lorenz, Michael ; Gerber, Andrea ; Mainz, Jochen G. ; Beck, James F.
Publisher:Cairo, Egypt: Hindawi Publishing Corporation
Journal title:Case reports in infectious diseases, 2015-01, Vol.2015 (2015), p.1-9
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Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18
Author / Creator:Bartolomaeus, Tobias ; Hentschel, Julia ; Jamra, Rami Abou ; Popp, Bernt
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2023-10, Vol.31 (10), p.1154-1164
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Clinical Impact of Polygenic Risk Score for Breast Cancer Risk Prediction in 382 Individuals with Hereditary Breast and Ovarian Cancer Syndrome
Author / Creator:Stiller, Sarah ; Drukewitz, Stephan ; Lehmann, Kathleen ; Hentschel, Julia ; Strehlow, Vincent
Publisher:Switzerland: MDPI AG
Journal title:Cancers, 2023-08, Vol.15 (15), p.3938
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Evaluation of Automated Magnetic Bead–Based DNA Extraction for Detection of Short Tandem Repeat Expansions With Nanopore Sequencing
Author / Creator:Faust, Helene ; Duffek, Patricia ; Hentschel, Julia ; Popp, Denny
Publisher:United States: John Wiley and Sons Inc
Journal title:Journal of clinical laboratory analysis, 2024-03, Vol.38 (6), p.e25029-n/a
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Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families
Author / Creator:Ahting, Simone ; Henn, Constance ; vom Hove, Maike ; Strehlow, Vincent ; Duffek, Patricia ; Behrendt, Sophie ; Drukewitz, Stephan ; Berger, Jasmin ; Graeber, Simon Y. ; Hentschel, Julia
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2025-05, Vol.26 (10), p.4487
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Intestinal Current Measurements Detect Activation of Mutant CFTR in Patients with Cystic Fibrosis with the G551D Mutation Treated with Ivacaftor
Author / Creator:Graeber, Simon Y. ; Hug, Martin J. ; Sommerburg, Olaf ; Hirtz, Stephanie ; Hentschel, Julia ; Heinzmann, Andrea ; Dopfer, Christian ; Schulz, Angela ; Mainz, Jochen G. ; Tümmler, Burkhard ; Mall, Marcus A.
Publisher:United States: American Thoracic Society
Journal title:American journal of respiratory and critical care medicine, 2015-11, Vol.192 (10), p.1252-1255
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Cystic-fibrosis related-diabetes (CFRD) is preceded by and associated with growth failure and deteriorating lung function
Author / Creator:Terliesner, Nicolas ; Vogel, Mandy ; Steighardt, Anna ; Gausche, Ruth ; Henn, Constance ; Hentschel, Julia ; Kapellen, Thomas ; Klamt, Sabine ; Gebhardt, Julia ; Kiess, Wieland ; Prenzel, Freerk
Publisher:Germany: De Gruyter
Journal title:Journal of Pediatric Endocrinology & Metabolism, 2017-08, Vol.30 (8), p.815-821
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Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders
Author / Creator:Halfmeyer, Insa ; Bartolomaeus, Tobias ; Popp, Bernt ; Radtke, Maximilian ; Helms, Tobias ; Hentschel, Julia ; Popp, Denny ; Jamra, Rami Abou
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2022-12, Vol.14 (1), p.30
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The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals
Author / Creator:Zacher, Pia ; Mayer, Thomas ; Brandhoff, Frank ; Bartolomaeus, Tobias ; Le Duc, Diana ; Finzel, Martin ; Heinze, Anja ; Horn, Susanne ; Klöckner, Chiara ; Körber, Gudrun ; Hentschel, Julia ; Kalita, Malgorzata ; Krey, Ilona ; Nastainczyk-Wulf, Marina ; Platzer, Konrad ; Rebstock, Johannes ; Popp, Bernt ; Stiller, Mathias ; Teichmann, Anne-Christin ; Jamra, Rami Abou ; Lemke, Johannes R.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-08, Vol.23 (8), p.1492-1497
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Gene panel testing of 5589 BRCA1/2‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer
Author / Creator:Hauke, Jan ; Horvath, Judit ; Groß, Eva ; Gehrig, Andrea ; Honisch, Ellen ; Hackmann, Karl ; Schmidt, Gunnar ; Arnold, Norbert ; Faust, Ulrike ; Sutter, Christian ; Hentschel, Julia ; Wang‐Gohrke, Shan ; Smogavec, Mateja ; Weber, Bernhard H. F. ; Weber‐Lassalle, Nana ; Weber‐Lassalle, Konstantin ; Borde, Julika ; Ernst, Corinna ; Altmüller, Janine ; Volk, Alexander E. ; Thiele, Holger ; Hübbel, Verena ; Nürnberg, Peter ; Keupp, Katharina ; Versmold, Beatrix ; Pohl, Esther ; Kubisch, Christian ; Grill, Sabine ; Paul, Victoria ; Herold, Natalie ; Lichey, Nadine ; Rhiem, Kerstin ; Ditsch, Nina ; Ruckert, Christian ; Wappenschmidt, Barbara ; Auber, Bernd ; Rump, Andreas ; Niederacher, Dieter ; Haaf, Thomas ; Ramser, Juliane ; Dworniczak, Bernd ; Engel, Christoph ; Meindl, Alfons ; Schmutzler, Rita K. ; Hahnen, Eric
Publisher:United States: John Wiley & Sons, Inc
Journal title:Cancer medicine (Malden, MA), 2018-04, Vol.7 (4), p.1349-1358
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DNA damage-induced translocation of S100A11 into the nucleus regulates cell proliferation
Author / Creator:Gorsler, Theresa ; Murzik, Ulrike ; Ulbricht, Tobias ; Hentschel, Julia ; Hemmerich, Peter ; Melle, Christian
Publisher:England: BioMed Central Ltd
Journal title:BMC cell biology, 2010-12, Vol.11 (1), p.100-100, Article 100
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Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer
Author / Creator:Rolfes, Muriel ; Borde, Julika ; Möllenhoff, Kathrin ; Kayali, Mohamad ; Ernst, Corinna ; Gehrig, Andrea ; Sutter, Christian ; Ramser, Juliane ; Niederacher, Dieter ; Horváth, Judit ; Arnold, Norbert ; Meindl, Alfons ; Auber, Bernd ; Rump, Andreas ; Wang-Gohrke, Shan ; Ritter, Julia ; Hentschel, Julia ; Thiele, Holger ; Altmüller, Janine ; Nürnberg, Peter ; Rhiem, Kerstin ; Engel, Christoph ; Wappenschmidt, Barbara ; Schmutzler, Rita K. ; Hahnen, Eric ; Hauke, Jan
Publisher:Switzerland: MDPI AG
Journal title:Cancers, 2022-07, Vol.14 (13), p.3292
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Showing 1 to 20 of 34 results

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altAFplotter: a web app for reliable UPD detection in NGS diagnostics

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Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy

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Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers

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Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion

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Exome sequencing in Nigerian children with early‐onset epilepsy syndromes

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Reduced Nasal Nitric Oxide Production in Cystic Fibrosis Patients with Elevated Systemic Inflammation Markers

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The Posttraumatic Increase of the Adhesion GPCR EMR2/ADGRE2 on Circulating Neutrophils Is Not Related to Injury Severity

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Changes of Proteases, Antiproteases, and Pathogens in Cystic Fibrosis Patients’ Upper and Lower Airways after IV-Antibiotic Therapy

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Pseudomonas aeruginosa Acquisition in Cystic Fibrosis Patients in Context of Otorhinolaryngological Surgery or Dentist Attendance: Case Series and Discussion of Preventive Concepts

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Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18

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Clinical Impact of Polygenic Risk Score for Breast Cancer Risk Prediction in 382 Individuals with Hereditary Breast and Ovarian Cancer Syndrome

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Evaluation of Automated Magnetic Bead–Based DNA Extraction for Detection of Short Tandem Repeat Expansions With Nanopore Sequencing

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Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families

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Intestinal Current Measurements Detect Activation of Mutant CFTR in Patients with Cystic Fibrosis with the G551D Mutation Treated with Ivacaftor

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Cystic-fibrosis related-diabetes (CFRD) is preceded by and associated with growth failure and deteriorating lung function

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Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders

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The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals

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Gene panel testing of 5589 BRCA1/2‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

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DNA damage-induced translocation of S100A11 into the nucleus regulates cell proliferation

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Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer

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