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Search for the most precise diagnosis of monogenic diabetes - the usefulness of short-read NGS method in molecular testing in Polish patients.

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Title: Search for the most precise diagnosis of monogenic diabetes - the usefulness of short-read NGS method in molecular testing in Polish patients.
Authors: Płoszaj T; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland. tomasz.ploszaj@umed.lodz.pl., Skoczylas S; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland., Gadzalska K; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland., Gorządek M; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland., Jakiel P; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland., Juścińska E; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland., Borowiec M; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland., Mojsak P; Clinical Research Centre - Metabolomics and Proteomics Laboratory, Medical University of Bialystok, Białystok, Poland., Oto A; Student Society for Genetic Counseling and Clinical Genetics at the Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland., Ołubiec A; Student Society for Genetic Counseling and Clinical Genetics at the Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland., Chobot A; Department of Pediatrics, Institute of Medical Sciences, University of Opole, Opole, Poland., Cypryk K; Department of Internal Diseases and Diabetology, Medical University of Lodz, Lodz, Poland., Głowińska-Olszewska B; Department of Pediatrics, Endocrinology, Diabetology with Cardiology Division, Medical University of Bialystok, Bialystok, Poland., Iwaniszewska B; Division of Pediatrics, Pediatric Endocrinology and Pediatric Neurology, Ludwik Rydygier's Provincial Hospital in Torun, Children's Hospital, Torun, Poland., Jarosz-Chobot P; Department of Children's Diabetology and Lifestyle Medicine, Medical University of Silesia, Katowice, Poland., Kasznicki J; Clinic of Internal Medicine, Diabetology and Clinical Pharmacology, Medical University of Lodz, Lodz, Poland., Kowalska I; Department of Internal Medicine and Metabolic Diseases, Medical University of Białystok, Białystok, Poland., Mazur A; Department of Pediatrics, Pediatric Endocrinology and Diabetes, The University of Rzeszow, Faculty of Medicine, Rzeszow, Poland., Moczulski D; Department of Internal Medicine and Nephrodiabetology, Medical University of Lodz, Lodz, Poland., Myśliwiec M; Medical University of Gdansk, Department of Pediatric Diabetology and Endocrinology, Gdansk, Poland., Nazim J; Department of Pediatric and Adolescent Endocrinology, Jagiellonian University Medical College, Krakow, Poland., Robak-Kontna K; Outpatient Clinic for Pediatric Diabetology, Regional Children's Hospital in Bydgoszcz, Bydgoszcz, Poland., Skowrońska B; Department of Pediatric Diabetes and Obesity, Poznan University of Medical Sciences, Poznan, Poland., Stawerska R; Department of Developmental Age and Adult Endocrinology, Medical University of Lodz, Lodz, Poland., Szadkowska A; Department of Pediatrics, Diabetology, Endocrinology and Nephrology, Medical University of Lodz, Lodz, Poland., Urbańska-Kosińska M; Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland., Walczak M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, Szczecin, Poland., Zmysłowska A; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland.
Source: Acta diabetologica [Acta Diabetol] 2026 May; Vol. 63 (5), pp. 839-848. Date of Electronic Publication: 2026 Feb 13.
Publication Type: Journal Article
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 9200299 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-5233 (Electronic) Linking ISSN: 09405429 NLM ISO Abbreviation: Acta Diabetol Subsets: MEDLINE
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  Data: Search for the most precise diagnosis of monogenic diabetes - the usefulness of short-read NGS method in molecular testing in Polish patients.
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  Data: <searchLink fieldCode="AU" term="%22Płoszaj+T%22">Płoszaj T</searchLink>; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland. tomasz.ploszaj@umed.lodz.pl.<br /><searchLink fieldCode="AU" term="%22Skoczylas+S%22">Skoczylas S</searchLink>; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland.<br /><searchLink fieldCode="AU" term="%22Gadzalska+K%22">Gadzalska K</searchLink>; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland.<br /><searchLink fieldCode="AU" term="%22Gorządek+M%22">Gorządek M</searchLink>; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland.<br /><searchLink fieldCode="AU" term="%22Jakiel+P%22">Jakiel P</searchLink>; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland.<br /><searchLink fieldCode="AU" term="%22Juścińska+E%22">Juścińska E</searchLink>; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland.<br /><searchLink fieldCode="AU" term="%22Borowiec+M%22">Borowiec M</searchLink>; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland.<br /><searchLink fieldCode="AU" term="%22Mojsak+P%22">Mojsak P</searchLink>; Clinical Research Centre - Metabolomics and Proteomics Laboratory, Medical University of Bialystok, Białystok, Poland.<br /><searchLink fieldCode="AU" term="%22Oto+A%22">Oto A</searchLink>; Student Society for Genetic Counseling and Clinical Genetics at the Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland.<br /><searchLink fieldCode="AU" term="%22Ołubiec+A%22">Ołubiec A</searchLink>; Student Society for Genetic Counseling and Clinical Genetics at the Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland.<br /><searchLink fieldCode="AU" term="%22Chobot+A%22">Chobot A</searchLink>; Department of Pediatrics, Institute of Medical Sciences, University of Opole, Opole, Poland.<br /><searchLink fieldCode="AU" term="%22Cypryk+K%22">Cypryk K</searchLink>; Department of Internal Diseases and Diabetology, Medical University of Lodz, Lodz, Poland.<br /><searchLink fieldCode="AU" term="%22Głowińska-Olszewska+B%22">Głowińska-Olszewska B</searchLink>; Department of Pediatrics, Endocrinology, Diabetology with Cardiology Division, Medical University of Bialystok, Bialystok, Poland.<br /><searchLink fieldCode="AU" term="%22Iwaniszewska+B%22">Iwaniszewska B</searchLink>; Division of Pediatrics, Pediatric Endocrinology and Pediatric Neurology, Ludwik Rydygier's Provincial Hospital in Torun, Children's Hospital, Torun, Poland.<br /><searchLink fieldCode="AU" term="%22Jarosz-Chobot+P%22">Jarosz-Chobot P</searchLink>; Department of Children's Diabetology and Lifestyle Medicine, Medical University of Silesia, Katowice, Poland.<br /><searchLink fieldCode="AU" term="%22Kasznicki+J%22">Kasznicki J</searchLink>; Clinic of Internal Medicine, Diabetology and Clinical Pharmacology, Medical University of Lodz, Lodz, Poland.<br /><searchLink fieldCode="AU" term="%22Kowalska+I%22">Kowalska I</searchLink>; Department of Internal Medicine and Metabolic Diseases, Medical University of Białystok, Białystok, Poland.<br /><searchLink fieldCode="AU" term="%22Mazur+A%22">Mazur A</searchLink>; Department of Pediatrics, Pediatric Endocrinology and Diabetes, The University of Rzeszow, Faculty of Medicine, Rzeszow, Poland.<br /><searchLink fieldCode="AU" term="%22Moczulski+D%22">Moczulski D</searchLink>; Department of Internal Medicine and Nephrodiabetology, Medical University of Lodz, Lodz, Poland.<br /><searchLink fieldCode="AU" term="%22Myśliwiec+M%22">Myśliwiec M</searchLink>; Medical University of Gdansk, Department of Pediatric Diabetology and Endocrinology, Gdansk, Poland.<br /><searchLink fieldCode="AU" term="%22Nazim+J%22">Nazim J</searchLink>; Department of Pediatric and Adolescent Endocrinology, Jagiellonian University Medical College, Krakow, Poland.<br /><searchLink fieldCode="AU" term="%22Robak-Kontna+K%22">Robak-Kontna K</searchLink>; Outpatient Clinic for Pediatric Diabetology, Regional Children's Hospital in Bydgoszcz, Bydgoszcz, Poland.<br /><searchLink fieldCode="AU" term="%22Skowrońska+B%22">Skowrońska B</searchLink>; Department of Pediatric Diabetes and Obesity, Poznan University of Medical Sciences, Poznan, Poland.<br /><searchLink fieldCode="AU" term="%22Stawerska+R%22">Stawerska R</searchLink>; Department of Developmental Age and Adult Endocrinology, Medical University of Lodz, Lodz, Poland.<br /><searchLink fieldCode="AU" term="%22Szadkowska+A%22">Szadkowska A</searchLink>; Department of Pediatrics, Diabetology, Endocrinology and Nephrology, Medical University of Lodz, Lodz, Poland.<br /><searchLink fieldCode="AU" term="%22Urbańska-Kosińska+M%22">Urbańska-Kosińska M</searchLink>; Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland.<br /><searchLink fieldCode="AU" term="%22Walczak+M%22">Walczak M</searchLink>; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, Szczecin, Poland.<br /><searchLink fieldCode="AU" term="%22Zmysłowska+A%22">Zmysłowska A</searchLink>; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland.
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  Data: <searchLink fieldCode="JN" term="%229200299%22">Acta diabetologica</searchLink> [Acta Diabetol] 2026 May; Vol. 63 (5), pp. 839-848. <i>Date of Electronic Publication: </i>2026 Feb 13.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>9200299 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-5233 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209405429%22">09405429 </searchLink><i>NLM ISO Abbreviation: </i>Acta Diabetol <i>Subsets: </i>MEDLINE
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