المؤلفون: Saliba-Gustafsson, P, Justesen, JM, Ranta, A, Sharma, D, Bielczyk-Maczynska, E, Li, J, Najmi, LA, Apodaka, M, Aspichueta, P, Björck, HM, Eriksson, P, Schurr, TM, Franco-Cereceda, A, Gloudemans, M, Mujica, E, den Hoed, M, Assimes, TL, Quertermous, T, Carcamo-Orive, I, Park, CY, Knowles, JW

المصدر: Hepatology (Baltimore, Md.).

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:239190705

المؤلفون: Saliba-Gustafsson, P, Justesen, JM, Ranta, A, Sharma, D, Bielczyk-Maczynska, E, Li, J, Najmi, LA, Apodaka, M, Aspichueta, P, Björck, HM, Eriksson, P, Franco-Cereceda, A, Gloudemans, M, Mujica, E, den Hoed, M, Assimes, TL, Quertermous, T, Carcamo-Orive, I, Park, CY, Knowles, JW

المصدر: medRxiv : the preprint server for health sciences.

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:238352379

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المؤلفون: Najmi LA; Department of Midwifery, Faculty of Nursing and Midwifery, Tabriz University of Medical Sciences, Tabriz, Iran., Mohammad-Alizadeh-Charandabi S; Department of Midwifery, Faculty of Nursing and Midwifery, Tabriz University of Medical Sciences, Tabriz, Iran., Abbasalizadeh F; Women's Reproductive Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran., Poormehr HS; Research Center for Evidence-Based Medicine, Iranian EBM Center: A Joanna Briggs Institute Center of Excellence, Tabriz University of Medical Sciences, Tabriz, Iran., Pashazade F; Research Center for Evidence-Based Medicine, Iranian EBM Center, Tabriz University of Medical Sciences, Tabriz, Iran., Mirghafourvand M; Social Determinants of Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. mirghafourvand@gmail.com.

المصدر: BMC health services research [BMC Health Serv Res] 2024 May 01; Vol. 24 (1), pp. 563. Date of Electronic Publication: 2024 May 01.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101088677 Publication Model: Electronic Cited Medium: Internet ISSN: 1472-6963 (Electronic) Linking ISSN: 14726963 NLM ISO Abbreviation: BMC Health Serv Res Subsets: MEDLINE

مواضيع طبية MeSH: Postnatal Care*/standards , Practice Guidelines as Topic* , Postpartum Period*, Humans ; Iran ; Female ; Infant, Newborn ; Pregnancy

المؤلفون: Althari S; Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford OX3 7LE, UK., Najmi LA; Center for Diabetes Research, Department of Clinical Science, University of Bergen, 5020 Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway; Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305-5101, USA., Bennett AJ; Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford OX3 7LE, UK., Aukrust I; Center for Diabetes Research, Department of Clinical Science, University of Bergen, 5020 Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway., Rundle JK; Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford OX3 7LE, UK., Colclough K; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX1 2LU, UK; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK., Molnes J; Center for Diabetes Research, Department of Clinical Science, University of Bergen, 5020 Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway., Kaci A; Center for Diabetes Research, Department of Clinical Science, University of Bergen, 5020 Bergen, Norway; Department of Pediatrics and Adolescents, Haukeland University Hospital, 5021 Bergen, Norway., Nawaz S; Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford OX3 7LE, UK., van der Lugt T; Hormone Laboratory, Haukeland University Hospital, 5021 Bergen, Norway., Hassanali N; Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford OX3 7LE, UK., Mahajan A; Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford OX3 7LE, UK; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK., Molven A; Center for Diabetes Research, Department of Clinical Science, University of Bergen, 5020 Bergen, Norway; Department of Clinical Medicine, University of Bergen, 5020 Bergen, Norway; Department of Pathology, Haukeland University Hospital, 5021 Bergen, Norway., Ellard S; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX1 2LU, UK; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK., McCarthy MI; Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford OX3 7LE, UK; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK; Oxford NIHR Biomedical Research Centre, Churchill Hospital, Oxford OX3 7LE, UK., Bjørkhaug L; Department of Safety, Chemistry, and Biomedical Laboratory Sciences, Western Norway University of Applied Sciences, 5020 Bergen, Norway., Njølstad PR; Center for Diabetes Research, Department of Clinical Science, University of Bergen, 5020 Bergen, Norway; Department of Pediatrics and Adolescents, Haukeland University Hospital, 5021 Bergen, Norway. Electronic address: pal.njolstad@uib.no., Gloyn AL; Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford OX3 7LE, UK; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK; Oxford NIHR Biomedical Research Centre, Churchill Hospital, Oxford OX3 7LE, UK; Division of Endocrinology, Department of Pediatrics, Stanford School of Medicine, Stanford University, Stanford, CA 94305-5101, USA.

المصدر: American journal of human genetics [Am J Hum Genet] 2020 Oct 01; Vol. 107 (4), pp. 670-682. Date of Electronic Publication: 2020 Sep 09.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease* , Mutation, Missense* , Registries* , Unsupervised Machine Learning*, Diabetes Mellitus, Type 2/*genetics , Hepatocyte Nuclear Factor 1-alpha/*genetics, Adolescent ; Adult ; Alleles ; Child ; Cluster Analysis ; Datasets as Topic ; Diabetes Mellitus, Type 2/diagnosis ; Diabetes Mellitus, Type 2/epidemiology ; Diabetes Mellitus, Type 2/pathology ; Female ; Gene Expression ; Humans ; Male ; Norway/epidemiology ; Phenotype ; Principal Component Analysis ; United Kingdom/epidemiology ; Exome Sequencing ; Young Adult

SCR Disease Name: Mason-Type Diabetes

المؤلفون: Najmi LA; KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway.; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.; Department of Biomedicine, University of Bergen, Bergen, Norway., Aukrust I; KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway.; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway., Flannick J; Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA., Molnes J; KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Pediatrics, Haukeland University Hospital, Bergen, Norway., Burtt N; Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA., Molven A; KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway.; Gade Laboratory for Pathology, Department of Clinical Medicine, University of Bergen, Bergen, Norway.; Department of Pathology, Haukeland University Hospital, Bergen, Norway., Groop L; Department of Clinical Sciences, Diabetes and Endocrinology, Clinical Research Center, Lund University, Malmö, Sweden., Altshuler D; Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA.; Departments of Genetics and Medicine, Harvard Medical School, Boston, MA.; Departments of Molecular Biology and Diabetes Unit, Massachusetts General Hospital, Boston, MA., Johansson S; KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway.; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway., Bjørkhaug L; KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Biomedical Laboratory Sciences, Bergen University College, Bergen, Norway., Njølstad PR; KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway pal.njolstad@uib.no lise.b.gundersen@hvl.no.; Department of Pediatrics, Haukeland University Hospital, Bergen, Norway.

المصدر: Diabetes [Diabetes] 2017 Feb; Vol. 66 (2), pp. 335-346. Date of Electronic Publication: 2016 Nov 29.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Diabetes Association Country of Publication: United States NLM ID: 0372763 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1939-327X (Electronic) Linking ISSN: 00121797 NLM ISO Abbreviation: Diabetes Subsets: MEDLINE

مواضيع طبية MeSH: Diabetes Mellitus, Type 2/*genetics , Hepatocyte Nuclear Factor 1-alpha/*genetics, Cohort Studies ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genetic Variation ; Genotype ; HeLa Cells ; Humans ; Male ; Odds Ratio ; Transcriptional Activation

SCR Disease Name: Maturity-Onset Diabetes of the Young, Type 3

المؤلفون: Rozenkova K; Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom., Malikova J; Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom., Nessa A; Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom., Dusatkova L; Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom., Bjørkhaug L; Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom., Obermannova B; Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom., Dusatkova P; Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom., Kytnarova J; Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom., Aukrust I; Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom., Najmi LA; Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom., Rypackova B; Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom., Sumnik Z; Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom., Lebl J; Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom., Njølstad PR; Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom., Hussain K; Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom., Pruhova S; Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom.

المصدر: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2015 Dec; Vol. 100 (12), pp. E1540-9. Date of Electronic Publication: 2015 Oct 02.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Congenital Hyperinsulinism/*epidemiology , Congenital Hyperinsulinism/*genetics , Hepatocyte Nuclear Factor 1-alpha/*genetics , Sulfonylurea Receptors/*genetics, Adult ; Child, Preschool ; Cohort Studies ; Czech Republic/epidemiology ; DNA/genetics ; Female ; Genetic Variation ; Germinal Center Kinases ; Hepatocyte Nuclear Factor 4/genetics ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation/genetics ; Pedigree ; Potassium Channels, Inwardly Rectifying/genetics ; Pregnancy ; Protein Serine-Threonine Kinases/genetics ; Rubidium Radioisotopes ; Transcriptional Activation

المؤلفون: Lund B, Najmi LA, Wesolowska-Andersen A, Landsem VM, Rasmussen KK, Borst L, Gupta R, Schmiegelow K, Klungland H

المصدر: Applied immunohistochemistry & molecular morphology : AIMM [Appl Immunohistochem Mol Morphol] 2015 Jan; Vol. 23 (1), pp. 71-7.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 100888796 Publication Model: Print Cited Medium: Internet ISSN: 1533-4058 (Electronic) Linking ISSN: 15334058 NLM ISO Abbreviation: Appl Immunohistochem Mol Morphol Subsets: MEDLINE

مواضيع طبية MeSH: Biomarkers, Tumor/*analysis , Bone Marrow/*physiology , DNA/*analysis , Precursor Cell Lymphoblastic Leukemia-Lymphoma/*diagnosis, Adolescent ; Biopsy ; Bone Banks/standards ; Child ; Child, Preschool ; DNA/isolation & purification ; Denmark ; Female ; Fluorometry ; Genome/genetics ; Genotype ; Humans ; Male ; Microsatellite Repeats/genetics ; Norway ; Pilot Projects ; Polymorphism, Single Nucleotide ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics ; Specimen Handling ; Spectrophotometry

المؤلفون: Estrada K; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts2Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston3Department of Medicine, Harvard Medical School, Boston, Massachusetts., Aukrust I; KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway6Department of Biomedicine, University of Bergen, Bergen, Norway., Bjørkhaug L; KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway5Department of Pediatrics, Haukeland University Hospital, Bergen, Norway., Burtt NP; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts., Mercader JM; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts7Center for Human Genetic Research and Diabetes Research Center (Diabetes Unit), Massachusetts General Hospital, Boston8Joint BSC-CRG-IRB Research Prog., García-Ortiz H; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico., Huerta-Chagoya A; Instituto de Investigaciones Biomédicas, UNAM Unidad de Biología Molecular y Medicina Genómica, UNAM/INCMNSZ, Coyoacán, Mexico City, Mexico., Moreno-Macías H; Universidad Autónoma Metropolitana, Tlalpan, Mexico City, Mexico., Walford G; Department of Medicine, Harvard Medical School, Boston, Massachusetts7Center for Human Genetic Research and Diabetes Research Center (Diabetes Unit), Massachusetts General Hospital, Boston., Flannick J; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts13Department of Molecular Biology, Harvard Medical School, Boston, Massachusetts., Williams AL; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts14Department of Biological Sciences, Columbia University, New York, New York., Gómez-Vázquez MJ; Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Sección XVI, Tlalpan, Mexico City, Mexico., Fernandez-Lopez JC; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico., Martínez-Hernández A; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico., Jiménez-Morales S; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico., Centeno-Cruz F; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico., Mendoza-Caamal E; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico., Revilla-Monsalve C; Unidad de Investigación Médica en Enfermedades Metabólicas, CMN SXXI, Instituto Mexicano del Seguro Social, Mexico City., Islas-Andrade S; Unidad de Investigación Médica en Enfermedades Metabólicas, CMN SXXI, Instituto Mexicano del Seguro Social, Mexico City., Córdova EJ; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico., Soberón X; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico., González-Villalpando ME; Centro de Estudios en Diabetes, Unidad de Investigacion en Diabetes y Riesgo Cardiovascular, Centro de Investigacion en Salud Poblacional, Instituto Nacional de Salud Publica, Mexico City, Mexico., Henderson E; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles., Wilkens LR; Epidemiology Program, University of Hawaii Cancer Center, Honolulu., Le Marchand L; Epidemiology Program, University of Hawaii Cancer Center, Honolulu., Arellano-Campos O; Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Sección XVI, Tlalpan, Mexico City, Mexico., Ordóñez-Sánchez ML; Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Sección XVI, Tlalpan, Mexico City, Mexico., Rodríguez-Torres M; Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Sección XVI, Tlalpan, Mexico City, Mexico., Rodríguez-Guillén R; Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Sección XVI, Tlalpan, Mexico City, Mexico., Riba L; Instituto de Investigaciones Biomédicas, UNAM Unidad de Biología Molecular y Medicina Genómica, UNAM/INCMNSZ, Coyoacán, Mexico City, Mexico., Najmi LA; KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway23Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway., Jacobs SB; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts., Fennell T; The Genomics Platform, The Broad Institute of Harvard and MIT, Cambridge, Massachusetts., Gabriel S; The Genomics Platform, The Broad Institute of Harvard and MIT, Cambridge, Massachusetts., Fontanillas P; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts., Hanis CL; Human Genetics Center, University of Texas Health Science Center at Houston., Lehman DM; Department of Medicine, University of Texas Health Science Center at San Antonio., Jenkinson CP; Department of Medicine, University of Texas Health Science Center at San Antonio., Abboud HE; Department of Medicine, University of Texas Health Science Center at San Antonio., Bell GI; Department of Human Genetics, University of Chicago, Chicago, Illinois28Department of Medicine, University of Chicago, Chicago, Illinois., Cortes ML; Broad Institute of Harvard and MIT, Cambridge, Massachusetts., Boehnke M; Department of Biostatistics, Center for Statistical Genetics, University of Michigan, Ann Arbor., González-Villalpando C; Centro de Estudios en Diabetes, Unidad de Investigacion en Diabetes y Riesgo Cardiovascular, Centro de Investigacion en Salud Poblacional, Instituto Nacional de Salud Publica, Mexico City, Mexico., Orozco L; Instituto Nacional de Medicina Genómica, Tlalpan, Mexico City, Mexico., Haiman CA; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles., Tusié-Luna T; Instituto de Investigaciones Biomédicas, UNAM Unidad de Biología Molecular y Medicina Genómica, UNAM/INCMNSZ, Coyoacán, Mexico City, Mexico17Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Sección XVI, Tlalpan, Mexico City, Mexico., Aguilar-Salinas CA; Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Sección XVI, Tlalpan, Mexico City, Mexico., Altshuler D; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts3Department of Medicine, Harvard Medical School, Boston, Massachusetts7Center for Human Genetic Research and Diabetes Research Center (Diabetes Unit)., Njølstad PR; KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway5Department of Pediatrics, Haukeland University Hospital, Bergen, Norway., Florez JC; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts3Department of Medicine, Harvard Medical School, Boston, Massachusetts7Center for Human Genetic Research and Diabetes Research Center (Diabetes Unit)., MacArthur DG; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts3Department of Medicine, Harvard Medical School, Boston, Massachusetts.

مؤلفون مشاركون: SIGMA Type 2 Diabetes Consortium

المصدر: JAMA [JAMA] 2014 Jun 11; Vol. 311 (22), pp. 2305-14.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

بيانات الدورية: Publisher: American Medical Association Country of Publication: United States NLM ID: 7501160 Publication Model: Print Cited Medium: Internet ISSN: 1538-3598 (Electronic) Linking ISSN: 00987484 NLM ISO Abbreviation: JAMA Subsets: MEDLINE

مواضيع طبية MeSH: Diabetes Mellitus, Type 2/*genetics , Hepatocyte Nuclear Factor 1-alpha/*genetics, Adult ; Age of Onset ; Aged ; Female ; Genotype ; Hispanic or Latino/genetics ; Humans ; Male ; Mexico ; Middle Aged ; Mutation, Missense ; Sequence Analysis, DNA ; United States

SCR Disease Name: Maturity-Onset Diabetes of the Young, Type 3