المؤلفون: Henquin, Jean-Claude, Nenquin, Myriam, Sempoux, Christine, Guiot, Yves, Bellanné-Chantelot, Christine, Otonkoski, Timo, de Lonlay, Pascale, Nihoul-Fékété, Claire, Rahier, Jacques

المساهمون: UCL - SSS/IREC/GAEN - Pôle d'Hépato-gastro-entérologie, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service d'anatomie pathologique, UCL - (SLuc) Centre du cancer

المصدر: Journal of Clinical Investigation, Vol. 121, no. 10, p. 3932-3942 (2011)

مصطلحات موضوعية: Tolbutamide, Receptors, Drug, Potassium Channels, Inwardly Rectifying, Persistent Hyperinsulinemia Hypoglycemia of Infancy, Mutation, Models, Biological, Islets of Langerhans, Insulin, Infant, Humans, Drug Resistance, Diazoxide, Cyclin-Dependent Kinase Inhibitor p57, ATP-Binding Cassette Transporters

Relation: boreal:96511; http://hdl.handle.net/2078.1/96511; info:pmid/21968111; urn:ISSN:0021-9738; urn:EISSN:1558-8238

الاتاحة: http://hdl.handle.net/2078.1/96511
https://doi.org/10.1172/JCI58400

المؤلفون: Myriam Nenquin, Christine Sempoux, Yves Guiot, Claire Nihoul-Fékété, Pascale de Lonlay, Jean-Claude Henquin, Timo Otonkoski, Jacques Rahier, Christine Bellanné-Chantelot

المساهمون: UCL - SSS/IREC/GAEN - Pôle d'Hépato-gastro-entérologie, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service d'anatomie pathologique, UCL - (SLuc) Centre du cancer

المصدر: Journal of Clinical Investigation, Vol. 121, no. 10, p. 3932-3942 (2011)

مصطلحات موضوعية: medicine.medical_specialty, Tolbutamide, Receptors, Drug, Drug Resistance, Models, Biological, Lesion, Islets of Langerhans, Internal medicine, medicine, Diazoxide, Insulin, Humans, Persistent Hyperinsulinemia Hypoglycemia of Infancy, Potassium Channels, Inwardly Rectifying, Cyclin-Dependent Kinase Inhibitor p57, biology, Infant, General Medicine, medicine.disease, Insulin oscillation, medicine.anatomical_structure, Endocrinology, Glutamate dehydrogenase 1, Mutation, biology.protein, Congenital hyperinsulinism, Sulfonylurea receptor, ATP-Binding Cassette Transporters, medicine.symptom, Pancreas, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbb1c44063d86aa41db01db81531b4e8
https://doi.org/10.1172/jci58400

المؤلفون: Timo Otonkoski, Klaus Brusgaard, Henrik Thybo Christesen, Khalid Hussain, Bendt Brock Jacobsen, Jan Alm, Claus Fenger, Claus Hovendal, Sture Sjöblad, Lars S. Rasmussen

المصدر: Christesen, H T, Brusgaard, K, Alm, J, Sjoblad, S, Hussain, K, Fenger, C, Rasmussen, L, Hovendal, C, Otonkoski, T & Brock-Jacobsen, B 2007, ' Rapid Genetic Analysis in Congenital Hyperinsulinism ', Hormone Research, vol. 67, no. 4, pp. 184-188 . https://doi.org/10.1159/000097063

مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Potassium Channels, Genotype, Receptors, Drug, Endocrinology, Diabetes and Metabolism, macromolecular substances, Biology, Sulfonylurea Receptors, Preoperative care, Diagnosis, Differential, Hyperinsulinaemic hypoglycaemia, Endocrinology, Internal medicine, Preoperative Care, medicine, Humans, Persistent Hyperinsulinemia Hypoglycemia of Infancy, Genetic Testing, Potassium Channels, Inwardly Rectifying, Genetic testing, medicine.diagnostic_test, Genetic Screening, Infant, Newborn, medicine.disease, Phenotype, Mutation, Pediatrics, Perinatology and Child Health, Diffuse disease, Congenital hyperinsulinism, Congenital Hyperinsulinism, ATP-Binding Cassette Transporters

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d35123c926d52e90de3301516d38cfb1
https://doi.org/10.1159/000097063

المؤلفون: Valūnienė, Margarita

المصدر: Pediatrija : Lietuvos pediatrų draugijos VII suvažiavimo mokslinė programa : Panevėžys, 2003 gegužės 23-24 d, Vilnius, 2003, Nr. 5, p. 96-98 ; ISSN 1648-4630

مصطلحات موضوعية: Persistent hyperinsulinemia hypoglycemia of infancy, info:eu-repo/classification/udc/616.153.455.04-053.31

Relation: http://lsmu.lvb.lt/LSMU:ELABAPDB4893128&prefLang=en_US

الاتاحة: http://lsmu.lvb.lt/LSMU:ELABAPDB4893128&prefLang=en_US

المؤلفون: Rahier, Jacques, Guiot, Yves, Sempoux, Christine

المساهمون: UCL - SSS/IREC/GAEN - Pôle d'Hépato-gastro-entérologie, UCL - (SLuc) Service d'anatomie pathologique, UCL - (SLuc) Centre du cancer

المصدر: Seminars in Pediatric Surgery, Vol. 20, no. 1, p. 3-12 (2011)

مصطلحات موضوعية: Humans, Immunohistochemistry, Infant, Newborn, Insulin-Secreting Cells - metabolism, Islets of Langerhans - pathology, Nesidioblastosis - pathology, Pancreatectomy, Persistent Hyperinsulinemia Hypoglycemia of Infancy - etiology, pathology, surgery

Relation: boreal:96640; http://hdl.handle.net/2078.1/96640; info:pmid/21185997; urn:ISSN:1055-8586; urn:EISSN:1532-9453

الاتاحة: http://hdl.handle.net/2078.1/96640
https://doi.org/10.1053/j.sempedsurg.2010.10.010

المؤلفون: Sempoux, Christine, Capito, C., Bellanné-Chantelot, C., Verkarre, V., de Lonlay, P., Aigrain, Y., Fekete, C., Guiot, Yves, Rahier, Jacques

المساهمون: UCL - SSS/IREC/GAEN - Pôle d'Hépato-gastro-entérologie, UCL - (SLuc) Centre du cancer, UCL - (SLuc) Service d'anatomie pathologique

المصدر: Journal of Clinical Endocrinology and Metabolism, Vol. 96, no. 12, p. 3785-3793 (2011)

مصطلحات موضوعية: Treatment Outcome, Persistent Hyperinsulinemia Hypoglycemia of Infancy, Pancreatectomy, Mutation, Mosaicism, Microsatellite Repeats, Male, Islets of Langerhans, Infant, Newborn, Humans, Female

Relation: boreal:105520; http://hdl.handle.net/2078.1/105520; info:pmid/21956412; urn:ISSN:0021-972X; urn:EISSN:1945-7197

الاتاحة: http://hdl.handle.net/2078.1/105520
https://doi.org/10.1210/jc.2010-3032

المؤلفون: Kassem, Sameer, Rahier, Jacques, Heyman, Maayan, Glaser, Benjamin, Bhandari, Sonal, Motaghedi, Roja, Maclaren, Noel K., Adelaida Garcia-Gimeno, M., Sanz, Pascual, Rodriguez-Bada, Pablo, Cobo-Vuilleumier, Nadia, Luis Cuesta-Munoz, Antonio

المساهمون: UCL - Cliniques universitaires Saint-Luc, UCL - SSS/IREC - Institut de recherche expérimentale et clinique

المصدر: New England Journal of Medicine, Vol. 362, no. 14, p. 1348-50 (2010)

مصطلحات موضوعية: Persistent Hyperinsulinemia Hypoglycemia of Infancy, Pancreas, Mutation, Islets of Langerhans, Insulin-Secreting Cells, Infant, Newborn, Humans, Glucokinase, Female, Cell Proliferation

Relation: boreal:33633; http://hdl.handle.net/2078.1/33633; info:pmid/20375417; urn:ISSN:0028-4793; urn:EISSN:1533-4406

الاتاحة: http://hdl.handle.net/2078.1/33633
https://doi.org/10.1056/NEJMc0909845

المؤلفون: Bellanné-Chantelot, C, Saint-Martin, C, Ribeiro, M-J, Vaury, C, Verkarre, V, Arnoux, J-B, Valayannopoulos, V, Gobrecht, S, Sempoux, Christine, Rahier, J, Fournet, J-C, Jaubert, F, Aigrain, Y, Nihoul-Fékété, C, de Lonlay, P

المساهمون: UCL - SSS/IREC/GAEN - Pôle d'Hépato-gastro-entérologie

المصدر: Journal of Medical Genetics : an international peer-reviewed journal for health professionals and researchers in all areas of genetics, Vol. 47, no. 11, p. 752-9 (2010)

مصطلحات موضوعية: ATP-Binding Cassette Transporters - genetics, DNA Mutational Analysis, Mutation, Persistent Hyperinsulinemia Hypoglycemia of Infancy - diagnosis, drug therapy, genetics, Potassium Channels, Inwardly Rectifying - genetics, Receptors, Drug - genetics, Vasodilator Agents - therapeutic use, Diazoxide - therapeutic use, Drug Resistance, Female, Genotype, Humans, Infant, Newborn, Male

Relation: boreal:96651; http://hdl.handle.net/2078.1/96651; info:pmid/20685672; urn:ISSN:0022-2593; urn:EISSN:1468-6244

الاتاحة: http://hdl.handle.net/2078.1/96651
https://doi.org/10.1136/jmg.2009.075416

المؤلفون: Ismail, Dunia, Rahier, Jacques, Smith, Virpi V., de Lonlay, Pascale, Ribeiro, Maria-Joao, Blankenstein, Oliver, Flanagan, Sarah E, Bellanné-Chantelot, Christine, Verkarre, Virginie, Aigrain, Yves, Pierro, Agostino, Ellard, Sian, Hussain, Khalid

المساهمون: UCL - Cliniques universitaires Saint-Luc, UCL - SSS/IREC - Institut de recherche expérimentale et clinique

المصدر: The Journal of clinical endocrinology and metabolism, Vol. 96, no. 1, p. 24-8 (2011)

مصطلحات موضوعية: Treatment Outcome, Siblings, Polymerase Chain Reaction, Persistent Hyperinsulinemia Hypoglycemia of Infancy, Pancreas, Male, Loss of Heterozygosity, Infant, Newborn, Humans, Female

Relation: boreal:33392; http://hdl.handle.net/2078.1/33392; info:pmid/20943779; urn:EISSN:1945-7197; urn:ISSN:0021-972X

الاتاحة: http://hdl.handle.net/2078.1/33392
https://doi.org/10.1210/jc.2010-1524

المؤلفون: Arnoux, Jean-Baptiste, Rahier, Jacques, Sempoux, Christine, de Lonlay, Pascale, Ribeiro, Maria-Joao, Hussain, Khalid, Blankenstein, Oliver, Mohnike, Klaus, Valayannopoulos, Vassili, Robert, Jean-Jacques, Bellanne, Christine, Verkarre, Virginie, Aigrain, Yves, Jaubert, Francis, Brunelle, Francis, Nihoul-Fekete, Claire

المساهمون: UCL - Cliniques universitaires Saint-Luc, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - SSS/IREC/GAEN - Pôle d'Hépato-gastro-entérologie

المصدر: Early Human Development, Vol. 86, no. 5, p. 287-94 (2010)

مصطلحات موضوعية: Prognosis, Positron-Emission Tomography, Persistent Hyperinsulinemia Hypoglycemia of Infancy, Infant, Newborn, Hypoglycemia, Humans, Genetic Diseases, Inborn, Endocrine Surgical Procedures, Congenital hyperinsulinism, Diffuse, Focal, Potassium channel, DOPA PET-CT

Relation: boreal:33677; http://hdl.handle.net/2078.1/33677; info:pmid/20550977; urn:ISSN:0378-3782; urn:EISSN:1872-6232

الاتاحة: http://hdl.handle.net/2078.1/33677
https://doi.org/10.1016/j.earlhumdev.2010.05.003

المؤلفون: Iva Martinac, Marko Bogović, Stipe Batinica, Vladimir Sarnavka, Sanda Huljev Frković, Toni Matić, Jasminka Jakić-Razumović, Otmar Rubin, Tomislav Luetić, Vesna Kušec, Danijela Petković Ramadža, Davor Begović, Vesna Benjak, Andrea Dasović-Buljević, Anko Antabak, Stanko Ćavar, Dijana Kukin, Suzana Sršen-Medančić, Ivo Barić

المصدر: Liječnički vjesnik
Volume 134
Issue 9-10

مصطلحات موضوعية: Persistent hyperinsulinemia hypoglycemia of infancy – genetics, diagnosis, pathology, therapy, Kongenitalni hiperinzulinizam – genetika, dijagnoza, patologija, liječenje

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______951::dd2509bff7d0aeab735dd838d286496a
https://hrcak.srce.hr/file/254413

المؤلفون: Sandal, T, Laborie, L B, Brusgaard, K, Eide, S A, Christesen, H B T, Søvik, O, Njølstad, P R, Molven, A

المصدر: Sandal , T , Laborie , L B , Brusgaard , K , Eide , S A , Christesen , H B T , Søvik , O , Njølstad , P R & Molven , A 2009 , ' The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy ' , Clinical Genetics , vol. 75 , no. 5 , pp. 440-8 .

مصطلحات موضوعية: ATP-Binding Cassette Transporters, Cohort Studies, Female, Genetic Testing, Humans, Infant, Newborn, Male, Mutation, Norway, Pedigree, Persistent Hyperinsulinemia Hypoglycemia of Infancy, Potassium Channels, Inwardly Rectifying, Receptors, Drug

Relation: https://portal.findresearcher.sdu.dk/da/publications/615c2900-0bff-11df-aefb-000ea68e967b

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/615c2900-0bff-11df-aefb-000ea68e967b

المؤلفون: Khen-Dunlop, Naziha, Capito, Carmen, Valayannopoulos, Vassili, Elie, Caroline, Ribeiro, Maria-Joao, Rahier, Jacques, Jaubert, Francis, Robert, Jean-Jacques, Aigrain, Yves, de Lonlay, Pascale, Fékété, Claire N

المساهمون: UCL - (SLuc) Unité d'endocrinologie pédiatrique, UCL - MD/MINT - Département de médecine interne

المصدر: Diabetes care, Vol. 31, no. 10, p. e71 (2008)

مصطلحات موضوعية: Blood Glucose, Child, Follow-Up Studies, Glycosuria, Humans, Hypoglycemia, Pancreatectomy, Persistent Hyperinsulinemia Hypoglycemia of Infancy, Postoperative Complications, Postoperative Period, Predictive Value of Tests, Recurrence

Relation: boreal:28291; http://hdl.handle.net/2078.1/28291; info:pmid/18820217; urn:ISSN:0149-5992; urn:EISSN:1935-5548

الاتاحة: http://hdl.handle.net/2078.1/28291
https://doi.org/10.2337/dc08-0596

المؤلفون: Christesen, Henrik B T, Tribble, Nicholas D, Molven, Anders, Siddiqui, Juveria, Sandal, Tone, Brusgaard, Klaus, Ellard, Sian, Njølstad, Pål R, Alm, Jan, Brock Jacobsen, Bendt, Hussain, Khalid, Gloyn, Anna L

المصدر: Christesen , H B T , Tribble , N D , Molven , A , Siddiqui , J , Sandal , T , Brusgaard , K , Ellard , S , Njølstad , P R , Alm , J , Brock Jacobsen , B , Hussain , K & Gloyn , A L 2008 , ' Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation ' , European Journal of Endocrinology , vol. 159 , no. 1 , pp. 27-34 . https://doi.org/10.1530/EJE-08-0203

مصطلحات موضوعية: Cohort Studies, Denmark, Enzyme Activation, Gene Frequency, Genotype, Glucokinase, Glucose, Great Britain, Heterozygote, Mutation, Norway, Persistent Hyperinsulinemia Hypoglycemia of Infancy, Prevalence, Substrate Specificity

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/574f0890-e155-11dd-9909-000ea68e967b
https://doi.org/10.1530/EJE-08-0203

المؤلفون: Muzyamba, Morris, Farzaneh, Tabasum, Behe, Phillip, Thomas, Alison, Christesen, Henrik Thybo, Brusgaard, Klaus, Hussain, Khalid, Tinker, Andrew

المصدر: Muzyamba , M , Farzaneh , T , Behe , P , Thomas , A , Christesen , H T , Brusgaard , K , Hussain , K & Tinker , A 2007 , ' Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies ' , Clinical Endocrinology , vol. 67 , no. 1 , pp. 115-124 . https://doi.org/10.1111/j.1365-2265.2007.02847.x

مصطلحات موضوعية: ATP-Binding Cassette Transporters, Adult, Animals, Blotting, Western, CHO Cells, Case-Control Studies, Cricetinae, Cricetulus, Gene Expression, Genotype, Humans, Infant, Newborn, Male, Mice, Mutagenesis, Site-Directed, Mutation, Persistent Hyperinsulinemia Hypoglycemia of Infancy, Phenotype, Potassium Channels, Inwardly Rectifying, Receptors, Drug, Staining and Labeling, Transfection

Relation: https://portal.findresearcher.sdu.dk/da/publications/4e778670-cb3a-11dc-8674-000ea68e967b

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/4e778670-cb3a-11dc-8674-000ea68e967b
https://doi.org/10.1111/j.1365-2265.2007.02847.x

المؤلفون: Giurgea, Irina, Sempoux, Christine, Bellanné-Chantelot, Christine, Ribeiro, Maria, Hubert, Laurence, Boddaert, Nathalie, Saudubray, Jean-Marie, Robert, Jean-Jacques, Brunelle, Francis, Rahier, Jacques, Jaubert, Francis, Nihoul-Fékété, Claire, de Lonlay, Pascale

المساهمون: UCL - MD/MNOP - Département de morphologie normale et pathologique, UCL - (SLuc) Service d'anatomie pathologique

المصدر: The Journal of clinical endocrinology and metabolism, Vol. 91, no. 10, p. 4118-23 (2006)

مصطلحات موضوعية: ATP-Binding Cassette Transporters, Duodenum, Humans, Insulin, Loss of Heterozygosity, Models, Biological, Mutation, Pancreas, Persistent Hyperinsulinemia Hypoglycemia of Infancy, Phenotype, Potassium Channels, Inwardly Rectifying, Receptors, Drug, Time Factors

Relation: boreal:28308; http://hdl.handle.net/2078.1/28308; info:pmid/16882742; urn:ISSN:0021-972X

الاتاحة: http://hdl.handle.net/2078.1/28308
https://doi.org/10.1210/jc.2006-0397

المؤلفون: Mohnike, K, Blankenstein, O, Christesen, H T, De Lonlay, J, Hussain, K, Koopmans, K P, Minn, H, Mohnike, W, Mutair, A, Otonkoski, T, Rahier, Jacques, Ribeiro, M, Schoenle, E, Fékété, C N

المساهمون: UCL - MD/MNOP - Département de morphologie normale et pathologique, UCL - (SLuc) Service d'anatomie pathologique

المصدر: Hormone research, Vol. 66, no. 1, p. 40-42 (2006)

مصطلحات موضوعية: Diagnosis, Differential, Fluorine Radioisotopes, Humans, Infant, Levodopa, Pancreas, Persistent Hyperinsulinemia Hypoglycemia of Infancy, Positron-Emission Tomography, Questionnaires, Sensitivity and Specificity

Relation: boreal:28310; http://hdl.handle.net/2078.1/28310; info:pmid/16710094; urn:ISSN:0301-0163

الاتاحة: http://hdl.handle.net/2078.1/28310
https://doi.org/10.1159/000093471

المؤلفون: Giurgea, Irina, Bellanné-Chantelot, Christine, Ribeiro, Maria, Hubert, Laurence, Sempoux, Christine, Robert, Jean-Jacques, Blankenstein, Oliver, Hussain, Kahlid, Brunelle, Francis, Nihoul-Fékété, Claire, Rahier, Jacques, Jaubert, Francis, de Lonlay, Pascale

المساهمون: UCL - MD/MNOP - Département de morphologie normale et pathologique, UCL - (SLuc) Service d'anatomie pathologique

المصدر: Hormone research, Vol. 66, no. 6, p. 289-96 (2006)

مصطلحات موضوعية: ATP-Binding Cassette Transporters, Chromosomes, Human, Pair 11, Genes, Dominant, Recessive, Glutamate Dehydrogenase, Humans, Infant, Newborn, Insulin, Loss of Heterozygosity, Persistent Hyperinsulinemia Hypoglycemia of Infancy, Potassium Channels, Inwardly Rectifying, Receptors, Drug, Syndrome

Relation: boreal:28306; http://hdl.handle.net/2078.1/28306; info:pmid/17003566; urn:ISSN:0301-0163

الاتاحة: http://hdl.handle.net/2078.1/28306
https://doi.org/10.1159/000095938

المؤلفون: Otonkoski, Timo, Näntö-Salonen, Kirsti, Seppänen, Marko, Veijola, Riitta, Huopio, Hanna, Hussain, Khalid, Tapanainen, Päivi, Eskola, Olli, Parkkola, Riitta, Ekström, Klas, Guiot, Yves, Rahier, Jacques, Laakso, Markku, Rintala, Risto, Nuutila, Pirjo, Minn, Heikki

المساهمون: UCL - MD/MNOP - Département de morphologie normale et pathologique

المصدر: Diabetes, Vol. 55, no. 1, p. 13-8 (2006)

مصطلحات موضوعية: Child, Preschool, Fluorine Radioisotopes, Humans, Infant, Newborn, Levodopa, Mutation, Pancreas, Persistent Hyperinsulinemia Hypoglycemia of Infancy, Positron-Emission Tomography

Relation: boreal:27703; http://hdl.handle.net/2078.1/27703; info:pmid/16380471; urn:ISSN:0012-1797

الاتاحة: http://hdl.handle.net/2078.1/27703
https://doi.org/10.2337/diabetes.55.01.06.db05-1128

المؤلفون: Crétolle, C, de Lonlay, P, Sauvat, F, Brunelle, F, Rahier, Jacques, Saudubray, J M, Nihoul-Fékété, C

المساهمون: UCL - MD/MNOP - Département de morphologie normale et pathologique, UCL - (SLuc) Service d'anatomie pathologique

المصدر: Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie, Vol. 12, no. 3, p. 258-63 (2005)

مصطلحات موضوعية: Biopsy, Child, Preschool, Female, Follow-Up Studies, Humans, Infant, Newborn, Male, Mutation, Pancreas, Pancreatectomy, Persistent Hyperinsulinemia Hypoglycemia of Infancy, Postoperative Complications, Retrospective Studies, Time Factors, Treatment Outcome

Relation: boreal:28323; http://hdl.handle.net/2078.1/28323; info:pmid/15734120; urn:ISSN:0929-693X

الاتاحة: http://hdl.handle.net/2078.1/28323
https://doi.org/10.1016/j.arcped.2004.09.017