المؤلفون: Claudia Neubauer, Maren Ewers, Hans-Ulrich Schulz, Frank Ulrich Weiß, Felix Lämmerhirt, Markus M. Lerch, Peter Bugert, Olfert Landt, Hana Algül, Jonas Rosendahl, Heiko Witt

المصدر: Pancreas. 51:1231-1234

مصطلحات موضوعية: Endocrinology, Hepatology, Endocrinology, Diabetes and Metabolism, Internal Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::71dd97366cf6fc86cad2e0d518f456ba
https://doi.org/10.1097/mpa.0000000000002177

المؤلفون: Lucie Canaff, Claude Férec, Jonas Rosendahl, Katharina Eiseler, Emmanuelle Masson, Peter Bugert, Maren Ewers, Patrick Michl, Vinciane Rebours, Antonia Em. Weh, David Goltzman, Heiko Witt, Jian-Min Chen

المصدر: Pancreatology. 21:1299-1304

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Genotype, Endocrinology, Diabetes and Metabolism, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Polymorphism (computer science), Pancreatitis, Chronic, Internal medicine, medicine, Humans, Child, Receptor, Allele frequency, Aged, 030304 developmental biology, Calcium metabolism, 0303 health sciences, Polymorphism, Genetic, Hepatology, business.industry, Infant, Newborn, Gastroenterology, Infant, NFAT, Middle Aged, medicine.disease, Endocrinology, Child, Preschool, Mutation, Pancreatitis, Female, 030211 gastroenterology & hepatology, Calcium-sensing receptor, business, Receptors, Calcium-Sensing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e75062b4555cdc4c336f861609aed389
https://doi.org/10.1016/j.pan.2021.08.008

المؤلفون: András Szabó, Prachand Issarapu, Emmanuelle Masson, Peter Bugert, Denise Lasher, Sumit Paliwal, Claudia Ruffert, Shin Hamada, K. Radha Mani, Helmut Laumen, Jian-Min Chen, Atsushi Masamune, David A. Groneberg, Katharina Seltsam, Kiyoshi Kume, Xunjun Xiao, Maren Ewers, Eriko Nakano, M. Michael Barmada, Tooru Shimosegawa, Jonas Rosendahl, Giriraj R. Chandak, Thomas Müller, Mark E. Lowe, Miklós Sahin-Tóth, Heiko Witt, Seema Bhaskar, David C. Whitcomb, Claude Férec

المصدر: American Journal of Gastroenterology. 114:974-983

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Time Factors, Adolescent, medicine.medical_treatment, DNA Mutational Analysis, medicine.disease_cause, Article, Pathogenesis, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Pancreatitis, Chronic, Internal medicine, medicine, Humans, Pancreatic lipase, Genetic Predisposition to Disease, Child, Gene, Early onset, Mutation, Protease, Virulence, Hepatology, biology, business.industry, Infant, Newborn, Gastroenterology, Infant, DNA, Lipase, medicine.disease, Trypsin, Endocrinology, Child, Preschool, 030220 oncology & carcinogenesis, biology.protein, Pancreatitis, Female, 030211 gastroenterology & hepatology, business, Biomarkers, Follow-Up Studies, Peptide Hydrolases, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd8f489f34cd4a57579c412918eeeab3
https://doi.org/10.14309/ajg.0000000000000051

المؤلفون: Andreas R. Janecke, Insha Rasool, Eva Mildenberger, Sandhya S. Visweswariah, Antje Ballauff, Heiko Witt, Laurent Michaud, Peter Heinz-Erian, Andreas Müller, Christian Hülstrunk, Bart G. P. Koot, Irene Fuchs, Heinz Zoller, Britt-Sabina Petersen, Štefan Rosipal, Thomas Müller, Andre Franke, Julia Vodopiutz

المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Paediatric Gastroenterology

المصدر: Gut, 65(8), 1306-1313. BMJ Publishing Group
Gut

مصطلحات موضوعية: Diarrhea, Male, 0301 basic medicine, medicine.medical_specialty, Receptors, Peptide, Colon, Guanylin, Guanosine Monophosphate, Mutation, Missense, Receptors, Enterotoxin, GUANYLATE CYCLASE, Biology, CHRONIC DIARRHOEA, Pathogenesis, 03 medical and health sciences, chemistry.chemical_compound, symbols.namesake, Germline mutation, Internal medicine, BACTERIAL ENTEROTOXINS, medicine, Humans, Missense mutation, Abnormalities, Multiple, Genetic Predisposition to Disease, Intestinal Mucosa, Cyclic guanosine monophosphate, Sanger sequencing, PAEDIATRIC DIARRHOEA, Sodium, Gastroenterology, Infant, Molecular Reproduction, Development & Genetics (formed by the merger of DBGL and CRBME), Molecular biology, Intestines, 030104 developmental biology, Endocrinology, Intestinal Absorption, Receptors, Guanylate Cyclase-Coupled, chemistry, INTESTINAL ION TRANSPORT, symbols, Female, Metabolism, Inborn Errors, Intracellular, Uroguanylin

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30f577b5d105cf0690c0762b85ac472f
https://doi.org/10.1136/gutjnl-2015-309441

المؤلفون: Miklós Sahin-Tóth, Heiko Witt, Andrea Schnúr, Sebastian Beer, Péter Hegyi

المصدر: Gut. 63:337-343

مصطلحات موضوعية: Genetics, medicine.medical_specialty, Mutation, Hereditary pancreatitis, Trypsinogen, Chymotrypsin-C, Gastroenterology, Biology, medicine.disease, medicine.disease_cause, Article, ddc, chemistry.chemical_compound, Endocrinology, chemistry, Internal medicine, medicine, Pancreatitis, Secretion, Trypsinogen activation, Pancreatitis, chronic

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ae3b9f8e05f21e54cb3847d691b0406
https://doi.org/10.1136/gutjnl-2012-304331

المؤلفون: Michael J. McMahon, Derek A. O'Reilly, Michael Larvin, Mark T Cartmell, Andrew N. Kingsnorth, Andrew G. Demaine, Sakhawat H. Rahman, Andreas Kage, Michael Becker, Olfert Landt, Kevin Sargen, Heiko Witt, Hans-Ulrich Schulz

المصدر: European Journal of Gastroenterology & Hepatology. 20:726-731

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pancreatic disease, Adolescent, medicine.medical_treatment, Trypsin inhibitor, Polymerase Chain Reaction, Gastroenterology, Pathogenesis, Gene Frequency, Polymorphism (computer science), Internal medicine, Humans, Medicine, Genetic Predisposition to Disease, Age of Onset, Polymorphism, Single-Stranded Conformational, Aged, Aged, 80 and over, Protease, Hepatology, business.industry, Odds ratio, Middle Aged, medicine.disease, Phenotype, Endocrinology, Pancreatitis, Trypsin Inhibitor, Kazal Pancreatic, Acute Disease, Acute pancreatitis, Female, Carrier Proteins, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0ec0ba9e578834685b459dca383cdd5
https://doi.org/10.1097/meg.0b013e3282f5728c

المؤلفون: Tamás Molnár, Rene H. M. te Morsche, Heiko Witt, Zsofia Nemoda, Joost P.H. Drenth, Ákos Pap, Jan B.M.J. Jansen, Sundaresan Santhosh

المصدر: Pancreas, 36, 317-20
Pancreas, 36, 3, pp. 317-20

مصطلحات موضوعية: Adult, Male, Heterozygote, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Membrane transport and intracellular motility [NCMLS 5], Polymorphism, Single Nucleotide, Endocrinology, Gene Frequency, Pancreatitis, Chronic, Internal medicine, Internal Medicine, medicine, Humans, PRSS2, Trypsin, Molecular gastro-enterology and hepatology [IGMD 2], Child, Alleles, Loss function, Aged, DNA Primers, Aged, 80 and over, Hungary, Base Sequence, Hepatology, Anionic Trypsinogen, business.industry, Middle Aged, medicine.disease, Genetic defects of metabolism [UMCN 5.1], Amino Acid Substitution, Case-Control Studies, Trypsinogen, Pancreatitis, Female, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79ec296835d000090eed5a243099f071
https://doi.org/10.1097/mpa.0b013e31815db4b3

المؤلفون: Heiko, Witt, Miklos Sahin Toth, Olfert, Landt, Jian Min Chen, Thilo, Kahne, Drenth, Joost P. H., Zoltan, Kukor, Edit, Szepessy, Walter, Halangk, Stefan, Dahm, Klaus, Rohde, Hans Ulrich Schulz, Cedric Le Marechal, Nejat, Akar, Ammann, Rudolf W., Kaspar, Truninger, Mario, Bargetzi, Eesh, Bhatia, Carlo, Castellani, Giulia Martina Cavestro, Milos, Cerny, DESTRO-BISOL, Giovanni, Spedini, Gabriella, Hans, Eiberg, Jansen, Jan B. M. J., Monika, Koudova, Eva, Rausova, Milan, Macek, Macek Jr, M., Nuria, Malats, Real, Francisco X., Hans Jurgen Menzel, Pedro, Moral, Roberta, Galavotti, Pier Franco Pignatti, Olga, Rickards, Julius, Spicak, Narcis Octavian Zarnescu, Wolfgang, Bock, Gress, Thomas M., Helmut, Friess, Johann, Ockenga, Hartmut, Schmidt, Roland, Pfutzer, Matthias, Lohr, Peter, Simon, Frank Ulrich Weiss, Lerch, Markus M., Niels, Teich, Volker, Keim, Thomas, Berg, Bertram, Wiedenmann, Werner, Luck, David Alexander Groneberg, Michael, Becker, Thomas, Keil, Andreas, Kage, Jana, Bernardova, Markus, Braun, Claudia, Guldner, Juliane, Halangk, Jonas, Rosendahl, Ulrike, Witt, Matthias, Treiber, Renate, Nickel, Claude, Ferec

المساهمون: Witt, H, SAHIN TOTH, M, Landt, O, Chen, Jm, Kahne, T, Drenth, Jp, Kukor, Z, Szepessy, E, Halangk, W, Dahm, S, Rohde, K, Schulz, Hu, LE MARECHAL, C, Akar, N, Ammann, Rw, Truninger, K, Bargetzi, M, Bhatia, E, Castellani, C, Cavestro, GIULIA MARTINA, Cerny, M, DESTRO BISOL, G, Spedini, G, Eiberg, H, Jansen, Jb, Koudova, M, Rausova, E, MACEK M., Jr, Malats, N, Real, Fx, Menzel, Hj, Moral, P, Galavotti, R, Pignatti, Pf, Rickards, O, Spicak, J, Zarnescu, No, Bock, W, Gress, Tm, Friess, H, Ockenga, J, Schmidt, H, Pfutzer, R, Lohr, M, Simon, P, Weiss, Fu, Lerch, Mm, Teich, N, Keim, V, Berg, T, Wiedenmann, B, Luck, W, Groneberg, Da, Becker, M, Keil, T, Kage, A, Bernardova, J, Braun, M, Guldner, C, Halangk, J, Rosendahl, J, Witt, U, Treiber, M, Nickel, R, Ferec, C.

المصدر: Nature Genetics, 38, 6, pp. 668-73
Recercat. Dipósit de la Recerca de Catalunya
instname
Nature Genetics, 38, 668-73
Karolinska Institutet

مصطلحات موضوعية: trypsin inhibitor, Models, Molecular, Enteropeptidase, Pancreatic disease, Membrane transport and intracellular motility [NCMLS 5], arginine, genetic risk, chemistry.chemical_compound, Models, proteinosis, Trypsin, Pancreatic Secretory Trypsin Inhibitor, PRSS1 gene, enteropeptidase, medicine.diagnostic_test, adult, Hydrolysis, cationic trypsinogen, protection, unclassified drug, enzyme activity, female, priority journal, risk factor, CHRONIC PANCREATITIS, protein degradation, Trypsinogen, medicine.drug, medicine.medical_specialty, anionic trypsinogen, Proteolysis, Biology, Article, male, Internal medicine, Genetics, medicine, Matrix-Assisted Laser Desorption-Ionization, Humans, PRSS2, controlled study, human, Molecular gastro-enterology and hepatology [IGMD 2], gene, DNA Primers, Genetic polymorphism, catalysis, Base Sequence, Spectrometry, disease predisposition, Molecular, cationic trypsinogen prss1, glycine, pancreatic secretory trypsin inhibitor spink1, trypsin, trypsinogen, article, chronic pancreatitis, codon, genetic susceptibility, major clinical study, nucleotide sequence, Chronic Disease, Haplotypes, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, Mass, medicine.disease, Tripsinogen, Tripsina, Settore BIO/18 - Genetica, Endocrinology, Genetic defects of metabolism [UMCN 5.1], Pancreatitis, chemistry, Genètica

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c84ef25b3b8f04b9a05573390b501145
https://doi.org/10.1038/ng1797

المؤلفون: Jan Maarten Cobben, Nienke E. Verbeek, Markus M. Lerch, Fowzan S. Alkuraya, Manuel Oltra Benavent, Celina Guzman, Nima Rezaei, Abdullah Alrajoudi, Özgür Kirbiyik, Martin Zenker, Charu Deshpande, Carlos A. Venegas-Vega, Prajnya Ranganath, Fouad Ali, Marie-Claude Addor, Erick Richmond, Eva-Lena Stattin, Lynette A. Gillis, Débora Romeo Bertola, David B. Everman, Klaus-Michael Keller, Maja Sukalo, Gesche Düker, Clara D.M. van Karnebeek, Heiko Witt, Zhifeng Liu, Julia Mayerle, Jiad N. Mcheik, Crésio Alves, Bita Bozorgmehr, Stephanie Spranger, Amy Shealy, Ankur Singh, Koumudi Godbole, Ariane Fiedler, Jan Liebelt, Gonul Ogur, Carsten Bergmann

المساهمون: Ondokuz Mayıs Üniversitesi, ANS - Amsterdam Neuroscience, Other Research, Human Genetics, Paediatric Genetics

المصدر: HUMAN MUTATION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Human mutation, 35(5), 521-531. Wiley-Liss Inc.

مصطلحات موضوعية: medicine.medical_specialty, Hearing Loss, Sensorineural, Ubiquitin-Protein Ligases, Dwarfism, Nose, Biology, medicine.disease_cause, UBR1, Short stature, aplasia of alae nasi, Frameshift mutation, Anus, Imperforate, Hypothyroidism, Ectodermal Dysplasia, Intellectual Disability, Internal medicine, Databases, Genetic, Genetics, medicine, Humans, Missense mutation, Abnormalities, Multiple, Allele, Exocrine pancreatic insufficiency, Growth Disorders, Genetics (clinical), cognitive impairment, Mutation, Pancreatic Diseases, medicine.disease, exocrine pancreatic insufficiency, Phenotype, Endocrinology, Johanson–Blizzard syndrome, Sensorineural hearing loss, medicine.symptom, Johanson-Blizzard syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67a0afa1a5856c41c1115b1d93d74dc5
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=8918

المؤلفون: Joachim Mössner, Renate Krüger, Heiko Witt, Hans Bödeker, Peter Kovacs, Niels Teich, Claudia Ruffert, Matthias Treiber, Andreas Kage, Michael Stumvoll, Jonas Rosendahl, Volker Keim, W Luck, Jana Bernadova, David A. Groneberg, Olfert Landt, Michael Becker

مصطلحات موضوعية: Genetics, medicine.medical_specialty, Gastroenterology, Case-control study, Biology, medicine.disease, Compound heterozygosity, Cystic fibrosis transmembrane conductance regulator, ddc, Endocrinology, Internal medicine, Genetic variation, Genotype, medicine, biology.protein, Pancreatitis, Allele, Gene

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ede0428c84d6c25ab3cc3903fee5d45c
https://mediatum.ub.tum.de/doc/1316502/document.pdf