المؤلفون: Delanghe JR; Department of Diagnostic Science, Ghent University, Ghent, Belgium., De Buyzere ML; Department of Internal Medicine, Ghent University Hospital, Ghent, Belgium., Delanghe SE; Department of Nephrology, Ghent University Hospital, Ghent, Belgium., Speeckaert MM; Department of Nephrology, Ghent University Hospital, Ghent, Belgium.; Research Foundation-Flanders (FWO), Ghent University Hospital, Brussels, Belgium.

المصدر: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association [Nephrol Dial Transplant] 2024 Sep 27; Vol. 39 (10), pp. 1548-1550.

نوع المنشور: Letter; Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 8706402 Publication Model: Print Cited Medium: Internet ISSN: 1460-2385 (Electronic) Linking ISSN: 09310509 NLM ISO Abbreviation: Nephrol Dial Transplant Subsets: MEDLINE

مواضيع طبية MeSH: Sodium-Glucose Transporter 2 Inhibitors*/therapeutic use , Diabetes Mellitus, Type 2*/drug therapy, Humans ; Urinalysis/methods ; Hypoglycemic Agents/therapeutic use

المؤلفون: Vanbelleghem E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Van Damme T; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Beyens A; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Symoens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Claes K; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., De Backer J; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Cardiology, Ghent University Hospital, Ghent, Belgium., Meerschaut I; Department of Pediatric Cardiology, University Hospital Brussels, Brussels, Belgium., Vanommeslaeghe F; Department of Nephrology, Ghent University Hospital, Ghent, Belgium., Delanghe SE; Department of Nephrology, Ghent University Hospital, Ghent, Belgium., van den Ende J; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium., Beyltjens T; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium., Scimone ER; Department of Pediatrics, Genetics Unit, MassGeneral for Children, Boston, MA, USA., Lindsay ME; Cardiovascular Genetics Program, Cardiology Division, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Pediatric Cardiology Division, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA., Schimmenti LA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Hinze AM; Division of Rheumatology, Mayo Clinic, Rochester, MN, USA., Dunn E; Department of Pediatrics, Division of Medical Genetic, Stanford University, Stanford, CA, USA., Gomez-Ospina N; Department of Pediatrics, Division of Medical Genetic, Stanford University, Stanford, CA, USA., Vandernoot I; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Delguste T; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Coppens S; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Cormier-Daire V; Paris Cité University, Centre of Reference for Constitutional Bone Diseases (MOC), Department of Genetics, INSERM UMR 1163, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Shieh J; Institute for Human Genetics and Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA., Demir Ş; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey., Arslan Ateş E; Department of Medical Genetics, Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey., Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Rohanizadegan M; Department of Medicine, Division of Translational Medicine & Human Genetics, University of Pennsylvania, Philadelphia, PA, USA., Rivera-Cruz G; Division of Reproductive Endocrinology and Infertility, Stanford University School of Medicine, Stanford, CA, USA., Douzgou S; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Lin AE; Department of Pediatrics, Genetics Unit, MassGeneral for Children, Boston, MA, USA., Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. bert.callewaert@ugent.be.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium. bert.callewaert@ugent.be.

مؤلفون مشاركون: Myhre Syndrome Foundation

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Sep 10. Date of Electronic Publication: 2024 Sep 10.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

المؤلفون: Vanbelleghem E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Van Damme T; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Beyens A; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Symoens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Claes K; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., De Backer J; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Cardiology, Ghent University Hospital, Ghent, Belgium., Meerschaut I; Department of Pediatric Cardiology, University Hospital Brussels, Brussels, Belgium., Vanommeslaeghe F; Department of Nephrology, Ghent University Hospital, Ghent, Belgium., Delanghe SE; Department of Nephrology, Ghent University Hospital, Ghent, Belgium., van den Ende J; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium., Beyltjens T; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium., Scimone ER; Department of Pediatrics, Genetics Unit, MassGeneral for Children, Boston, MA, USA., Lindsay ME; Cardiovascular Genetics Program, Cardiology Division, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Pediatric Cardiology Division, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA., Schimmenti LA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Hinze AM; Division of Rheumatology, Mayo Clinic, Rochester, MN, USA., Dunn E; Department of Pediatrics, Division of Medical Genetic, Stanford University, Stanford, CA, USA., Gomez-Ospina N; Department of Pediatrics, Division of Medical Genetic, Stanford University, Stanford, CA, USA., Vandernoot I; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Delguste T; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Coppens S; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Cormier-Daire V; Paris Cité University, Centre of Reference for Constitutional Bone Diseases (MOC), Department of Genetics, INSERM UMR 1163, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Shieh J; Institute for Human Genetics and Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA., Demir Ş; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey., Arslan Ateş E; Department of Medical Genetics, Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey., Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Rohanizadegan M; Department of Medicine, Division of Translational Medicine & Human Genetics, University of Pennsylvania, Philadelphia, PA, USA., Rivera-Cruz G; Division of Reproductive Endocrinology and Infertility, Stanford University School of Medicine, Stanford, CA, USA., Douzgou S; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Lin AE; Department of Pediatrics, Genetics Unit, MassGeneral for Children, Boston, MA, USA., Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. bert.callewaert@ugent.be.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium. bert.callewaert@ugent.be.

مؤلفون مشاركون: Myhre Syndrome Foundation

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Sep; Vol. 32 (9), pp. 1086-1094. Date of Electronic Publication: 2024 Jul 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Phenotype* , Smad4 Protein*/genetics , Intellectual Disability*/genetics , Intellectual Disability*/pathology , Intellectual Disability*/diagnosis, Humans ; Male ; Adult ; Female ; Cryptorchidism/genetics ; Cryptorchidism/pathology ; Adolescent ; Growth Disorders/genetics ; Growth Disorders/pathology ; Middle Aged ; Mutation, Missense ; Facies ; Genetic Association Studies ; Hand Deformities, Congenital

SCR Disease Name: Growth mental deficiency syndrome of Myhre

المؤلفون: Van Damme T; Department of Nephrology, Ghent University Hospital, Ghent, Belgium.; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Veys N; Department of Nephrology, Ghent University Hospital, Ghent, Belgium., Speeckaert MM; Department of Nephrology, Ghent University Hospital, Ghent, Belgium., Delanghe SE; Department of Nephrology, Ghent University Hospital, Ghent, Belgium.

المصدر: Acta clinica Belgica [Acta Clin Belg] 2023 Jun; Vol. 78 (3), pp. 248-253. Date of Electronic Publication: 2022 Jul 05.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: England NLM ID: 0370306 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2295-3337 (Electronic) Linking ISSN: 17843286 NLM ISO Abbreviation: Acta Clin Belg Subsets: MEDLINE

مواضيع طبية MeSH: Glomerulonephritis, Membranoproliferative*/diagnosis , Glomerulonephritis, Membranoproliferative*/drug therapy , Glomerulonephritis*/diagnosis , Nephritis*/complications , Lupus Erythematosus, Systemic*/complications , Lupus Nephritis*/complications, Male ; Humans ; Child, Preschool ; Adult ; Kidney Glomerulus/pathology

المؤلفون: Delanghe JR; Department of Diagnostic Sciences, Ghent University, Corneel Heymanslaan 10, 9000, Ghent, Belgium. Joris.Delanghe@ugent.be., De Buyzere ML; Department of Internal Medicine, Ghent University Hospital, Ghent, Belgium., Oyaert M; Department of Clinical Chemistry, Ghent University Hospital, Ghent, Belgium., Delanghe SE; Department of Nephrology, Ghent University Hospital, Ghent, Belgium., Speeckaert MM; Department of Nephrology, Ghent University Hospital, Ghent, Belgium.; Research Foundation Flanders, Brussels, Belgium.

المصدر: Clinical and experimental nephrology [Clin Exp Nephrol] 2020 May; Vol. 24 (5), pp. 489-490. Date of Electronic Publication: 2020 Feb 26.

نوع المنشور: Letter; Comment

بيانات الدورية: Publisher: Springer Country of Publication: Japan NLM ID: 9709923 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1437-7799 (Electronic) Linking ISSN: 13421751 NLM ISO Abbreviation: Clin Exp Nephrol Subsets: MEDLINE

مواضيع طبية MeSH: Molybdenum* , Pyrogallol*/analogs & derivatives, Humans ; Proteinuria

المؤلفون: Delanghe SE; Department of Nephrology, Ghent University Hospital, Ghent, Belgium., Speeckaert MM; Department of Nephrology, Ghent University Hospital, Ghent, Belgium; Research Foundation Flanders, Brussels, Belgium., Delanghe JR; Department of Diagnostic Sciences, Ghent University, Ghent, Belgium. Electronic address: Joris.Delanghe@ugent.be.

المصدر: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2020 May; Vol. 504, pp. 154. Date of Electronic Publication: 2020 Feb 04.

نوع المنشور: Letter

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3492 (Electronic) Linking ISSN: 00098981 NLM ISO Abbreviation: Clin Chim Acta Subsets: MEDLINE

مواضيع طبية MeSH: Glomerular Filtration Rate* , Urinary Diversion*, Urinary Bladder/*surgery , Urinary Bladder Neoplasms/*surgery, Cystatin C/blood ; Humans ; Urinary Bladder Neoplasms/blood ; Urinary Bladder Neoplasms/diagnosis

المؤلفون: Bruyne S; Department of Clinical Chemistry, Ghent University, Ghent 9000, Belgium., Himpe J; Department of Clinical Chemistry, Ghent University, Ghent 9000, Belgium., Delanghe SE; Department of Nephrology, Ghent University, Ghent 9000, Belgium., Glorieux G; Department of Nephrology, Ghent University, Ghent 9000, Belgium., Biesen WV; Department of Nephrology, Ghent University, Ghent 9000, Belgium., Buyzere ML; Department of Cardiology, Heart Center, Ghent University Hospital, Ghent 9000, Belgium., Speeckaert MM; Department of Nephrology, Ghent University, Ghent 9000, Belgium.; Research Foundation Flanders, Brussels 1000, Belgium., Delanghe JR; Department of Clinical Chemistry, Ghent University, Ghent 9000, Belgium.

المصدر: Toxins [Toxins (Basel)] 2020 Jan 26; Vol. 12 (2). Date of Electronic Publication: 2020 Jan 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101530765 Publication Model: Electronic Cited Medium: Internet ISSN: 2072-6651 (Electronic) Linking ISSN: 20726651 NLM ISO Abbreviation: Toxins (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Protein Carbamylation* , Renal Dialysis* , Renal Insufficiency, Chronic*/blood , Renal Insufficiency, Chronic*/metabolism , Renal Insufficiency, Chronic*/mortality , Renal Insufficiency, Chronic*/therapy, Nails/*chemistry , Toxins, Biological/*blood, Adult ; Aged ; Female ; Humans ; Male ; Proportional Hazards Models ; Proteins/metabolism ; Spectroscopy, Near-Infrared ; Uremia

المؤلفون: Delanghe JR; Department of Diagnostic Sciences, Ghent University, Ghent, Belgium. Electronic address: joris.Delanghe@ugent.be., Speeckaert MM; Department of Internal Medicine, Ghent University, Ghent, Belgium; Research Foundation Flanders, Brussels, Belgium., Delanghe SE; Department of Internal Medicine, Ghent University, Ghent, Belgium., De Buyzere ML; Department of Internal Medicine, Ghent University, Ghent, Belgium.

المصدر: Kidney international [Kidney Int] 2019 Jul; Vol. 96 (1), pp. 248-249.

نوع المنشور: Letter; Comment

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE

مواضيع طبية MeSH: Nephrotic Syndrome*, Clinical Decision-Making ; Humans ; Serum Albumin

المؤلفون: Delanghe SE; Department of Nephrology, Ghent University Hospital, 9000 Ghent, Belgium. Sigurd.Delanghe@ugent.be., De Bruyne S; Department of Clinical Chemistry, Ghent University Hospital, 9000 Ghent, Belgium. Sander.Debruyne@uzgent.be., De Baene L; Department of Clinical Chemistry, Ghent University Hospital, 9000 Ghent, Belgium. Linde.Debaene@ugent.be., Van Biesen W; Department of Nephrology, Ghent University Hospital, 9000 Ghent, Belgium. Wim.Vanbiesen@ugent.be., Speeckaert MM; Department of Nephrology, Ghent University Hospital, 9000 Ghent, Belgium. Marijn.Speeckaert@ugent.be.; Research Foundation-Flanders (FWO), 1000 Brussels, Belgium. Marijn.Speeckaert@ugent.be., Delanghe JR; Department of Clinical Chemistry, Ghent University Hospital, 9000 Ghent, Belgium. Joris.Delanghe@ugent.be.

المصدر: Journal of clinical medicine [J Clin Med] 2019 May 31; Vol. 8 (6). Date of Electronic Publication: 2019 May 31.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101606588 Publication Model: Electronic Cited Medium: Print ISSN: 2077-0383 (Print) Linking ISSN: 20770383 NLM ISO Abbreviation: J Clin Med Subsets: PubMed not MEDLINE

المؤلفون: Delanghe JR; Department of Clinical Chemistry, Ghent University Hospital, Ghent, Belgium. Electronic address: joris.delanghe@ugent.be., Delanghe SE; Department of Nephrology, Ghent University Hospital, Ghent, Belgium., De Buyzere ML; Department of Cardiology, Ghent University Hospital, Ghent, Belgium., Speeckaert MM; Department of Nephrology, Ghent University Hospital, Ghent, Belgium.

المصدر: Kidney international [Kidney Int] 2016 Jul; Vol. 90 (1), pp. 225-6.

نوع المنشور: Letter; Comment

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE

مواضيع طبية MeSH: Diabetic Nephropathies* , Disease Progression*, Carbohydrate Biochemistry ; Diabetes Mellitus, Type 2 ; Humans