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Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects.

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Title: Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects.
Authors: Nosrati MSS; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Doustmohammadi A; Department of Bioinformatics and Computational Biophysics, Faculty of Biology, University of Duisburg-Essen, Essen, Germany., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Romano F; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Zafari M; Department of Bioengineering, Northeastern University, Boston, Massachusetts, USA., Nemati AH; Department of Epidemiology and Biostatistics, Pasteur Institute of Iran, Tehran, Iran., Velmans C; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Netzer C; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Breuer J; Department of Paediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Broekaert IJ; Department of Paediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Joachim A; Department of Pediatrics, Faculty of Health, Helios University Medical Center Wuppertal, Witten/Herdecke University, Witten, Germany., Almasri N; Department of Rehabilitation Sciences College of Health Sciences, Qatar University, Doha, Qatar.; Department of Physiotherapy School of Rehabilitation Sciences, University of Jordan, Amman, Jordan., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA., Skidmore P; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA.; College of Health Solutions, Arizona State University, Tempe, Arizona, USA., Bisarad P; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA., Hoque J; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA., Torella A; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Buffelli F; Fetal-Perinatal Pathology Unit, IRCCS-Istituto Giannina Gaslini, Genoa, Italy., Fulcheri E; Fetal-Perinatal Pathology Unit, IRCCS-Istituto Giannina Gaslini, Genoa, Italy., Müller A; Pediatric Pathology, University Clinic of Cologne, Cologne, Germany., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Capra V; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Source: Clinical genetics [Clin Genet] 2025 Jan; Vol. 107 (1), pp. 83-90. Date of Electronic Publication: 2024 Sep 21.
Publication Type: Journal Article; Case Reports; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects.
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  Data: <searchLink fieldCode="AU" term="%22Nosrati+MSS%22">Nosrati MSS</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Doustmohammadi+A%22">Doustmohammadi A</searchLink>; Department of Bioinformatics and Computational Biophysics, Faculty of Biology, University of Duisburg-Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Severino+M%22">Severino M</searchLink>; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Romano+F%22">Romano F</searchLink>; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Zafari+M%22">Zafari M</searchLink>; Department of Bioengineering, Northeastern University, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Nemati+AH%22">Nemati AH</searchLink>; Department of Epidemiology and Biostatistics, Pasteur Institute of Iran, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Velmans+C%22">Velmans C</searchLink>; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Netzer+C%22">Netzer C</searchLink>; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Breuer+J%22">Breuer J</searchLink>; Department of Paediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Broekaert+IJ%22">Broekaert IJ</searchLink>; Department of Paediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Joachim+A%22">Joachim A</searchLink>; Department of Pediatrics, Faculty of Health, Helios University Medical Center Wuppertal, Witten/Herdecke University, Witten, Germany.<br /><searchLink fieldCode="AU" term="%22Almasri+N%22">Almasri N</searchLink>; Department of Rehabilitation Sciences College of Health Sciences, Qatar University, Doha, Qatar.; Department of Physiotherapy School of Rehabilitation Sciences, University of Jordan, Amman, Jordan.<br /><searchLink fieldCode="AU" term="%22Kruer+MC%22">Kruer MC</searchLink>; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA.<br /><searchLink fieldCode="AU" term="%22Skidmore+P%22">Skidmore P</searchLink>; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA.; College of Health Solutions, Arizona State University, Tempe, Arizona, USA.<br /><searchLink fieldCode="AU" term="%22Bisarad+P%22">Bisarad P</searchLink>; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA.<br /><searchLink fieldCode="AU" term="%22Hoque+J%22">Hoque J</searchLink>; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA.<br /><searchLink fieldCode="AU" term="%22Bakhtiari+S%22">Bakhtiari S</searchLink>; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA.<br /><searchLink fieldCode="AU" term="%22Torella+A%22">Torella A</searchLink>; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.<br /><searchLink fieldCode="AU" term="%22Nigro+V%22">Nigro V</searchLink>; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.<br /><searchLink fieldCode="AU" term="%22Buffelli+F%22">Buffelli F</searchLink>; Fetal-Perinatal Pathology Unit, IRCCS-Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Fulcheri+E%22">Fulcheri E</searchLink>; Fetal-Perinatal Pathology Unit, IRCCS-Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Müller+A%22">Müller A</searchLink>; Pediatric Pathology, University Clinic of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Zara+F%22">Zara F</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Capra+V%22">Capra V</searchLink>; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Scala+M%22">Scala M</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2025 Jan; Vol. 107 (1), pp. 83-90. <i>Date of Electronic Publication: </i>2024 Sep 21.
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