The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
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| Title: | The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations. |
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| Authors: | van Woerden GM; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands., Senden R; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., de Konink C; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands., Trezza RA; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands., Baban A; Pediatric Cardiology and Cardiac Arrhythmias Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Bassetti JA; Division of Medical Genetics, Weill Cornell Medicine, New York City, New York, USA., van Bever Y; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands., Bird LM; Department of Pediatrics, University of California San Diego, San Diego, California, USA.; Division of Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, California, USA., van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Brooks AS; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands., Guan Q; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Klee EW; Division of Computational Biology, Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA., Marcelis C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Rosado JM; Division of Computational Biology, Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Schimmenti LA; Department of Otorhinolaryngology Head and Neck Surgery, Ophthalmology, Clinical Genomics, and Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA., Shikany AR; The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Terhal PA; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Nicole Weaver K; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Wessels MW; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., van Wieringen H; Department of Pediatrics, St. Antonius Hospital, Nieuwegein, The Netherlands., Hurst AC; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Gooch CF; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Steindl K; Institute of Medical Genetics, University of Zürich, Schlieren, Switzerland., Joset P; Department of Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland., Rauch A; Institute of Medical Genetics, University of Zürich, Schlieren, Switzerland., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Department of Pediatrics, Sapienza University, Rome, Italy., Elgersma Y; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands., Demirdas S; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands. |
| Source: | Human mutation [Hum Mutat] 2022 Oct; Vol. 43 (10), pp. 1377-1395. Date of Electronic Publication: 2022 Jul 29. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 35730652 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22van+Woerden+GM%22">van Woerden GM</searchLink>; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Senden+R%22">Senden R</searchLink>; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Konink+C%22">de Konink C</searchLink>; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Trezza+RA%22">Trezza RA</searchLink>; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Baban+A%22">Baban A</searchLink>; Pediatric Cardiology and Cardiac Arrhythmias Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Bassetti+JA%22">Bassetti JA</searchLink>; Division of Medical Genetics, Weill Cornell Medicine, New York City, New York, USA.<br /><searchLink fieldCode="AU" term="%22van+Bever+Y%22">van Bever Y</searchLink>; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Bird+LM%22">Bird LM</searchLink>; Department of Pediatrics, University of California San Diego, San Diego, California, USA.; Division of Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, California, USA.<br /><searchLink fieldCode="AU" term="%22van+Bon+BW%22">van Bon BW</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Brooks+AS%22">Brooks AS</searchLink>; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Guan+Q%22">Guan Q</searchLink>; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Klee+EW%22">Klee EW</searchLink>; Division of Computational Biology, Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Marcelis+C%22">Marcelis C</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Rosado+JM%22">Rosado JM</searchLink>; Division of Computational Biology, Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Schimmenti+LA%22">Schimmenti LA</searchLink>; Department of Otorhinolaryngology Head and Neck Surgery, Ophthalmology, Clinical Genomics, and Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Shikany+AR%22">Shikany AR</searchLink>; The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Terhal+PA%22">Terhal PA</searchLink>; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Nicole+Weaver+K%22">Nicole Weaver K</searchLink>; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Wessels+MW%22">Wessels MW</searchLink>; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Wieringen+H%22">van Wieringen H</searchLink>; Department of Pediatrics, St. Antonius Hospital, Nieuwegein, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Hurst+AC%22">Hurst AC</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.<br /><searchLink fieldCode="AU" term="%22Gooch+CF%22">Gooch CF</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.<br /><searchLink fieldCode="AU" term="%22Steindl+K%22">Steindl K</searchLink>; Institute of Medical Genetics, University of Zürich, Schlieren, Switzerland.<br /><searchLink fieldCode="AU" term="%22Joset+P%22">Joset P</searchLink>; Department of Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22Rauch+A%22">Rauch A</searchLink>; Institute of Medical Genetics, University of Zürich, Schlieren, Switzerland.<br /><searchLink fieldCode="AU" term="%22Tartaglia+M%22">Tartaglia M</searchLink>; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Niceta+M%22">Niceta M</searchLink>; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Department of Pediatrics, Sapienza University, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Elgersma+Y%22">Elgersma Y</searchLink>; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Demirdas+S%22">Demirdas S</searchLink>; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2022 Oct; Vol. 43 (10), pp. 1377-1395. <i>Date of Electronic Publication: </i>2022 Jul 29. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=35730652 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/humu.24425 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1377 Titles: – TitleFull: The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: van Woerden GM – PersonEntity: Name: NameFull: Senden R – PersonEntity: Name: NameFull: de Konink C – PersonEntity: Name: NameFull: Trezza RA – PersonEntity: Name: NameFull: Baban A – PersonEntity: Name: NameFull: Bassetti JA – PersonEntity: Name: NameFull: van Bever Y – PersonEntity: Name: NameFull: Bird LM – PersonEntity: Name: NameFull: van Bon BW – PersonEntity: Name: NameFull: Brooks AS – PersonEntity: Name: NameFull: Guan Q – PersonEntity: Name: NameFull: Klee EW – PersonEntity: Name: NameFull: Marcelis C – PersonEntity: Name: NameFull: Rosado JM – PersonEntity: Name: NameFull: Schimmenti LA – PersonEntity: Name: NameFull: Shikany AR – PersonEntity: Name: NameFull: Terhal PA – PersonEntity: Name: NameFull: Nicole Weaver K – PersonEntity: Name: NameFull: Wessels MW – PersonEntity: Name: NameFull: van Wieringen H – PersonEntity: Name: NameFull: Hurst AC – PersonEntity: Name: NameFull: Gooch CF – PersonEntity: Name: NameFull: Steindl K – PersonEntity: Name: NameFull: Joset P – PersonEntity: Name: NameFull: Rauch A – PersonEntity: Name: NameFull: Tartaglia M – PersonEntity: Name: NameFull: Niceta M – PersonEntity: Name: NameFull: Elgersma Y – PersonEntity: Name: NameFull: Demirdas S IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 10 Text: 2022 Oct Type: published Y: 2022 Identifiers: – Type: issn-electronic Value: 1098-1004 Numbering: – Type: volume Value: 43 – Type: issue Value: 10 Titles: – TitleFull: Human mutation Type: main |
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